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NM_007294.4(BRCA1):c.5419del (p.Ile1807fs) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:
Pathogenic (4 submissions)
Last evaluated:
Sep 8, 2016
Review status:
3 stars out of maximum of 4 stars
reviewed by expert panel
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000112649.13

Allele description [Variation Report for NM_007294.4(BRCA1):c.5419del (p.Ile1807fs)]

NM_007294.4(BRCA1):c.5419del (p.Ile1807fs)

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.5419del (p.Ile1807fs)
Other names:
5537delA
HGVS:
  • NC_000017.11:g.43047692del
  • NG_005905.2:g.170293del
  • NM_001407571.1:c.5205delA
  • NM_001407581.1:c.5484delA
  • NM_001407582.1:c.5484delA
  • NM_001407583.1:c.5481delA
  • NM_001407585.1:c.5481delA
  • NM_001407587.1:c.5481delA
  • NM_001407590.1:c.5478delA
  • NM_001407591.1:c.5478delA
  • NM_001407593.1:c.5418delA
  • NM_001407594.1:c.5418delA
  • NM_001407596.1:c.5418delA
  • NM_001407597.1:c.5418delA
  • NM_001407598.1:c.5418delA
  • NM_001407602.1:c.5418delA
  • NM_001407603.1:c.5418delA
  • NM_001407605.1:c.5418delA
  • NM_001407610.1:c.5415delA
  • NM_001407611.1:c.5415delA
  • NM_001407612.1:c.5415delA
  • NM_001407613.1:c.5415delA
  • NM_001407614.1:c.5415delA
  • NM_001407615.1:c.5415delA
  • NM_001407616.1:c.5415delA
  • NM_001407617.1:c.5415delA
  • NM_001407618.1:c.5415delA
  • NM_001407619.1:c.5415delA
  • NM_001407620.1:c.5415delA
  • NM_001407621.1:c.5415delA
  • NM_001407622.1:c.5415delA
  • NM_001407623.1:c.5415delA
  • NM_001407624.1:c.5415delA
  • NM_001407625.1:c.5415delA
  • NM_001407626.1:c.5415delA
  • NM_001407627.1:c.5412delA
  • NM_001407628.1:c.5412delA
  • NM_001407629.1:c.5412delA
  • NM_001407630.1:c.5412delA
  • NM_001407631.1:c.5412delA
  • NM_001407632.1:c.5412delA
  • NM_001407633.1:c.5412delA
  • NM_001407634.1:c.5412delA
  • NM_001407635.1:c.5412delA
  • NM_001407636.1:c.5412delA
  • NM_001407637.1:c.5412delA
  • NM_001407638.1:c.5412delA
  • NM_001407639.1:c.5412delA
  • NM_001407640.1:c.5412delA
  • NM_001407641.1:c.5412delA
  • NM_001407642.1:c.5412delA
  • NM_001407644.1:c.5409delA
  • NM_001407645.1:c.5409delA
  • NM_001407646.1:c.5406delA
  • NM_001407647.1:c.5403delA
  • NM_001407648.1:c.5361delA
  • NM_001407649.1:c.5358delA
  • NM_001407652.1:c.5340delA
  • NM_001407653.1:c.5340delA
  • NM_001407654.1:c.5340delA
  • NM_001407655.1:c.5340delA
  • NM_001407656.1:c.5337delA
  • NM_001407657.1:c.5337delA
  • NM_001407658.1:c.5337delA
  • NM_001407659.1:c.5334delA
  • NM_001407660.1:c.5334delA
  • NM_001407661.1:c.5334delA
  • NM_001407662.1:c.5334delA
  • NM_001407663.1:c.5334delA
  • NM_001407664.1:c.5295delA
  • NM_001407665.1:c.5295delA
  • NM_001407666.1:c.5295delA
  • NM_001407667.1:c.5295delA
  • NM_001407668.1:c.5295delA
  • NM_001407669.1:c.5295delA
  • NM_001407670.1:c.5292delA
  • NM_001407671.1:c.5292delA
  • NM_001407672.1:c.5292delA
  • NM_001407673.1:c.5292delA
  • NM_001407674.1:c.5292delA
  • NM_001407675.1:c.5292delA
  • NM_001407676.1:c.5292delA
  • NM_001407677.1:c.5292delA
  • NM_001407678.1:c.5292delA
  • NM_001407679.1:c.5292delA
  • NM_001407680.1:c.5292delA
  • NM_001407681.1:c.5289delA
  • NM_001407682.1:c.5289delA
  • NM_001407683.1:c.5289delA
  • NM_001407684.1:c.5289delA
  • NM_001407685.1:c.5289delA
  • NM_001407686.1:c.5289delA
  • NM_001407687.1:c.5289delA
  • NM_001407688.1:c.5289delA
  • NM_001407689.1:c.5289delA
  • NM_001407690.1:c.5286delA
  • NM_001407691.1:c.5286delA
  • NM_001407692.1:c.5277delA
  • NM_001407694.1:c.5277delA
  • NM_001407695.1:c.5277delA
  • NM_001407696.1:c.5277delA
  • NM_001407697.1:c.5277delA
  • NM_001407698.1:c.5277delA
  • NM_001407724.1:c.5277delA
  • NM_001407725.1:c.5277delA
  • NM_001407726.1:c.5277delA
  • NM_001407727.1:c.5277delA
  • NM_001407728.1:c.5277delA
  • NM_001407729.1:c.5277delA
  • NM_001407730.1:c.5277delA
  • NM_001407731.1:c.5277delA
  • NM_001407732.1:c.5274delA
  • NM_001407733.1:c.5274delA
  • NM_001407734.1:c.5274delA
  • NM_001407735.1:c.5274delA
  • NM_001407736.1:c.5274delA
  • NM_001407737.1:c.5274delA
  • NM_001407738.1:c.5274delA
  • NM_001407739.1:c.5274delA
  • NM_001407740.1:c.5274delA
  • NM_001407741.1:c.5274delA
  • NM_001407742.1:c.5274delA
  • NM_001407743.1:c.5274delA
  • NM_001407744.1:c.5274delA
  • NM_001407745.1:c.5274delA
  • NM_001407746.1:c.5274delA
  • NM_001407747.1:c.5274delA
  • NM_001407748.1:c.5274delA
  • NM_001407749.1:c.5274delA
  • NM_001407750.1:c.5274delA
  • NM_001407751.1:c.5274delA
  • NM_001407752.1:c.5274delA
  • NM_001407838.1:c.5271delA
  • NM_001407839.1:c.5271delA
  • NM_001407841.1:c.5271delA
  • NM_001407842.1:c.5271delA
  • NM_001407843.1:c.5271delA
  • NM_001407844.1:c.5271delA
  • NM_001407845.1:c.5271delA
  • NM_001407846.1:c.5271delA
  • NM_001407847.1:c.5271delA
  • NM_001407848.1:c.5271delA
  • NM_001407849.1:c.5271delA
  • NM_001407850.1:c.5271delA
  • NM_001407851.1:c.5271delA
  • NM_001407852.1:c.5271delA
  • NM_001407853.1:c.5271delA
  • NM_001407854.1:c.5344delA
  • NM_001407858.1:c.5341delA
  • NM_001407859.1:c.5341delA
  • NM_001407860.1:c.5341delA
  • NM_001407861.1:c.5338delA
  • NM_001407862.1:c.5217delA
  • NM_001407863.1:c.5214delA
  • NM_001407874.1:c.5211delA
  • NM_001407875.1:c.5211delA
  • NM_001407879.1:c.5208delA
  • NM_001407881.1:c.5208delA
  • NM_001407882.1:c.5208delA
  • NM_001407884.1:c.5208delA
  • NM_001407885.1:c.5208delA
  • NM_001407886.1:c.5208delA
  • NM_001407887.1:c.5208delA
  • NM_001407889.1:c.5208delA
  • NM_001407894.1:c.5205delA
  • NM_001407895.1:c.5205delA
  • NM_001407896.1:c.5205delA
  • NM_001407897.1:c.5205delA
  • NM_001407898.1:c.5205delA
  • NM_001407899.1:c.5205delA
  • NM_001407900.1:c.5205delA
  • NM_001407902.1:c.5205delA
  • NM_001407904.1:c.5205delA
  • NM_001407906.1:c.5205delA
  • NM_001407907.1:c.5205delA
  • NM_001407908.1:c.5205delA
  • NM_001407909.1:c.5205delA
  • NM_001407910.1:c.5205delA
  • NM_001407915.1:c.5202delA
  • NM_001407916.1:c.5202delA
  • NM_001407917.1:c.5202delA
  • NM_001407918.1:c.5202delA
  • NM_001407919.1:c.5166delA
  • NM_001407920.1:c.5154delA
  • NM_001407921.1:c.5154delA
  • NM_001407922.1:c.5154delA
  • NM_001407923.1:c.5154delA
  • NM_001407924.1:c.5154delA
  • NM_001407925.1:c.5154delA
  • NM_001407926.1:c.5154delA
  • NM_001407927.1:c.5151delA
  • NM_001407928.1:c.5151delA
  • NM_001407929.1:c.5151delA
  • NM_001407930.1:c.5151delA
  • NM_001407931.1:c.5151delA
  • NM_001407932.1:c.5151delA
  • NM_001407933.1:c.5151delA
  • NM_001407934.1:c.5148delA
  • NM_001407935.1:c.5148delA
  • NM_001407936.1:c.5148delA
  • NM_001407937.1:c.5221delA
  • NM_001407938.1:c.5221delA
  • NM_001407939.1:c.5218delA
  • NM_001407940.1:c.5218delA
  • NM_001407941.1:c.5215delA
  • NM_001407942.1:c.5203delA
  • NM_001407943.1:c.5200delA
  • NM_001407944.1:c.5200delA
  • NM_001407945.1:c.5200delA
  • NM_001407946.1:c.5085delA
  • NM_001407947.1:c.5085delA
  • NM_001407948.1:c.5085delA
  • NM_001407949.1:c.5085delA
  • NM_001407950.1:c.5082delA
  • NM_001407951.1:c.5082delA
  • NM_001407952.1:c.5082delA
  • NM_001407953.1:c.5082delA
  • NM_001407954.1:c.5082delA
  • NM_001407955.1:c.5082delA
  • NM_001407956.1:c.5079delA
  • NM_001407957.1:c.5079delA
  • NM_001407958.1:c.5079delA
  • NM_001407959.1:c.5037delA
  • NM_001407960.1:c.5034delA
  • NM_001407962.1:c.5034delA
  • NM_001407963.1:c.5031delA
  • NM_001407964.1:c.4956delA
  • NM_001407965.1:c.4911delA
  • NM_001407966.1:c.4530delA
  • NM_001407967.1:c.4527delA
  • NM_001407968.1:c.2814delA
  • NM_001407969.1:c.2811delA
  • NM_001407970.1:c.2175delA
  • NM_001407971.1:c.2175delA
  • NM_001407972.1:c.2172delA
  • NM_001407973.1:c.2109delA
  • NM_001407974.1:c.2109delA
  • NM_001407975.1:c.2109delA
  • NM_001407976.1:c.2109delA
  • NM_001407977.1:c.2109delA
  • NM_001407978.1:c.2109delA
  • NM_001407979.1:c.2106delA
  • NM_001407980.1:c.2106delA
  • NM_001407981.1:c.2106delA
  • NM_001407982.1:c.2106delA
  • NM_001407983.1:c.2106delA
  • NM_001407984.1:c.2106delA
  • NM_001407985.1:c.2106delA
  • NM_001407986.1:c.2106delA
  • NM_001407990.1:c.2106delA
  • NM_001407991.1:c.2106delA
  • NM_001407992.1:c.2106delA
  • NM_001407993.1:c.2106delA
  • NM_001408392.1:c.2103delA
  • NM_001408396.1:c.2103delA
  • NM_001408397.1:c.2103delA
  • NM_001408398.1:c.2103delA
  • NM_001408399.1:c.2103delA
  • NM_001408400.1:c.2103delA
  • NM_001408401.1:c.2103delA
  • NM_001408402.1:c.2103delA
  • NM_001408403.1:c.2103delA
  • NM_001408404.1:c.2103delA
  • NM_001408406.1:c.2100delA
  • NM_001408407.1:c.2100delA
  • NM_001408408.1:c.2100delA
  • NM_001408409.1:c.2097delA
  • NM_001408410.1:c.2034delA
  • NM_001408411.1:c.2031delA
  • NM_001408412.1:c.2028delA
  • NM_001408413.1:c.2028delA
  • NM_001408414.1:c.2028delA
  • NM_001408415.1:c.2028delA
  • NM_001408416.1:c.2028delA
  • NM_001408418.1:c.1992delA
  • NM_001408419.1:c.1992delA
  • NM_001408420.1:c.1992delA
  • NM_001408421.1:c.1989delA
  • NM_001408422.1:c.1989delA
  • NM_001408423.1:c.1989delA
  • NM_001408424.1:c.1989delA
  • NM_001408425.1:c.1986delA
  • NM_001408426.1:c.1986delA
  • NM_001408427.1:c.1986delA
  • NM_001408428.1:c.1986delA
  • NM_001408429.1:c.1986delA
  • NM_001408430.1:c.1986delA
  • NM_001408431.1:c.1986delA
  • NM_001408432.1:c.1983delA
  • NM_001408433.1:c.1983delA
  • NM_001408434.1:c.1983delA
  • NM_001408435.1:c.1983delA
  • NM_001408436.1:c.1983delA
  • NM_001408437.1:c.1983delA
  • NM_001408438.1:c.1983delA
  • NM_001408439.1:c.1983delA
  • NM_001408440.1:c.1983delA
  • NM_001408441.1:c.1983delA
  • NM_001408442.1:c.1983delA
  • NM_001408443.1:c.1983delA
  • NM_001408444.1:c.1983delA
  • NM_001408445.1:c.1980delA
  • NM_001408446.1:c.1980delA
  • NM_001408447.1:c.1980delA
  • NM_001408448.1:c.1980delA
  • NM_001408450.1:c.1980delA
  • NM_001408451.1:c.1974delA
  • NM_001408452.1:c.1968delA
  • NM_001408453.1:c.1968delA
  • NM_001408454.1:c.1968delA
  • NM_001408455.1:c.1968delA
  • NM_001408456.1:c.1968delA
  • NM_001408457.1:c.1968delA
  • NM_001408458.1:c.1965delA
  • NM_001408459.1:c.1965delA
  • NM_001408460.1:c.1965delA
  • NM_001408461.1:c.1965delA
  • NM_001408462.1:c.1965delA
  • NM_001408463.1:c.1965delA
  • NM_001408464.1:c.1965delA
  • NM_001408465.1:c.1965delA
  • NM_001408466.1:c.1965delA
  • NM_001408467.1:c.1965delA
  • NM_001408468.1:c.1962delA
  • NM_001408469.1:c.1962delA
  • NM_001408470.1:c.1962delA
  • NM_001408472.1:c.2032delA
  • NM_001408473.1:c.2029delA
  • NM_001408474.1:c.1908delA
  • NM_001408475.1:c.1905delA
  • NM_001408476.1:c.1905delA
  • NM_001408478.1:c.1899delA
  • NM_001408479.1:c.1899delA
  • NM_001408480.1:c.1899delA
  • NM_001408481.1:c.1896delA
  • NM_001408482.1:c.1896delA
  • NM_001408483.1:c.1896delA
  • NM_001408484.1:c.1896delA
  • NM_001408485.1:c.1896delA
  • NM_001408489.1:c.1896delA
  • NM_001408490.1:c.1896delA
  • NM_001408491.1:c.1896delA
  • NM_001408492.1:c.1893delA
  • NM_001408493.1:c.1893delA
  • NM_001408494.1:c.1869delA
  • NM_001408495.1:c.1863delA
  • NM_001408496.1:c.1845delA
  • NM_001408497.1:c.1845delA
  • NM_001408498.1:c.1845delA
  • NM_001408499.1:c.1845delA
  • NM_001408500.1:c.1845delA
  • NM_001408501.1:c.1845delA
  • NM_001408502.1:c.1842delA
  • NM_001408503.1:c.1842delA
  • NM_001408504.1:c.1842delA
  • NM_001408505.1:c.1839delA
  • NM_001408506.1:c.1782delA
  • NM_001408507.1:c.1779delA
  • NM_001408508.1:c.1770delA
  • NM_001408509.1:c.1767delA
  • NM_001408510.1:c.1728delA
  • NM_001408511.1:c.1725delA
  • NM_001408512.1:c.1605delA
  • NM_001408513.1:c.1578delA
  • NM_001408514.1:c.1182delA
  • NM_007294.4:c.5419delMANE SELECT
  • NM_007297.4:c.5278del
  • NM_007298.4:c.2106delA
  • NM_007299.4:c.2033del
  • NM_007300.4:c.5482del
  • NM_007304.2:c.2106delA
  • NP_001394500.1:p.Ile1736Leufs
  • NP_001394510.1:p.Ile1829Leufs
  • NP_001394511.1:p.Ile1829Leufs
  • NP_001394512.1:p.Ile1828Leufs
  • NP_001394514.1:p.Ile1828Leufs
  • NP_001394516.1:p.Ile1828Leufs
  • NP_001394519.1:p.Ile1827Leufs
  • NP_001394520.1:p.Ile1827Leufs
  • NP_001394522.1:p.Ile1807Leufs
  • NP_001394523.1:p.Ile1807Leufs
  • NP_001394525.1:p.Ile1807Leufs
  • NP_001394526.1:p.Ile1807Leufs
  • NP_001394527.1:p.Ile1807Leufs
  • NP_001394531.1:p.Ile1807Leufs
  • NP_001394532.1:p.Ile1807Leufs
  • NP_001394534.1:p.Ile1807Leufs
  • NP_001394539.1:p.Ile1806Leufs
  • NP_001394540.1:p.Ile1806Leufs
  • NP_001394541.1:p.Ile1806Leufs
  • NP_001394542.1:p.Ile1806Leufs
  • NP_001394543.1:p.Ile1806Leufs
  • NP_001394544.1:p.Ile1806Leufs
  • NP_001394545.1:p.Ile1806Leufs
  • NP_001394546.1:p.Ile1806Leufs
  • NP_001394547.1:p.Ile1806Leufs
  • NP_001394548.1:p.Ile1806Leufs
  • NP_001394549.1:p.Ile1806Leufs
  • NP_001394550.1:p.Ile1806Leufs
  • NP_001394551.1:p.Ile1806Leufs
  • NP_001394552.1:p.Ile1806Leufs
  • NP_001394553.1:p.Ile1806Leufs
  • NP_001394554.1:p.Ile1806Leufs
  • NP_001394555.1:p.Ile1806Leufs
  • NP_001394556.1:p.Ile1805Leufs
  • NP_001394557.1:p.Ile1805Leufs
  • NP_001394558.1:p.Ile1805Leufs
  • NP_001394559.1:p.Ile1805Leufs
  • NP_001394560.1:p.Ile1805Leufs
  • NP_001394561.1:p.Ile1805Leufs
  • NP_001394562.1:p.Ile1805Leufs
  • NP_001394563.1:p.Ile1805Leufs
  • NP_001394564.1:p.Ile1805Leufs
  • NP_001394565.1:p.Ile1805Leufs
  • NP_001394566.1:p.Ile1805Leufs
  • NP_001394567.1:p.Ile1805Leufs
  • NP_001394568.1:p.Ile1805Leufs
  • NP_001394569.1:p.Ile1805Leufs
  • NP_001394570.1:p.Ile1805Leufs
  • NP_001394571.1:p.Ile1805Leufs
  • NP_001394573.1:p.Ile1804Leufs
  • NP_001394574.1:p.Ile1804Leufs
  • NP_001394575.1:p.Ile1803Leufs
  • NP_001394576.1:p.Ile1802Leufs
  • NP_001394577.1:p.Ile1788Leufs
  • NP_001394578.1:p.Ile1787Leufs
  • NP_001394581.1:p.Ile1781Leufs
  • NP_001394582.1:p.Ile1781Leufs
  • NP_001394583.1:p.Ile1781Leufs
  • NP_001394584.1:p.Ile1781Leufs
  • NP_001394585.1:p.Ile1780Leufs
  • NP_001394586.1:p.Ile1780Leufs
  • NP_001394587.1:p.Ile1780Leufs
  • NP_001394588.1:p.Ile1779Leufs
  • NP_001394589.1:p.Ile1779Leufs
  • NP_001394590.1:p.Ile1779Leufs
  • NP_001394591.1:p.Ile1779Leufs
  • NP_001394592.1:p.Ile1779Leufs
  • NP_001394593.1:p.Ile1766Leufs
  • NP_001394594.1:p.Ile1766Leufs
  • NP_001394595.1:p.Ile1766Leufs
  • NP_001394596.1:p.Ile1766Leufs
  • NP_001394597.1:p.Ile1766Leufs
  • NP_001394598.1:p.Ile1766Leufs
  • NP_001394599.1:p.Ile1765Leufs
  • NP_001394600.1:p.Ile1765Leufs
  • NP_001394601.1:p.Ile1765Leufs
  • NP_001394602.1:p.Ile1765Leufs
  • NP_001394603.1:p.Ile1765Leufs
  • NP_001394604.1:p.Ile1765Leufs
  • NP_001394605.1:p.Ile1765Leufs
  • NP_001394606.1:p.Ile1765Leufs
  • NP_001394607.1:p.Ile1765Leufs
  • NP_001394608.1:p.Ile1765Leufs
  • NP_001394609.1:p.Ile1765Leufs
  • NP_001394610.1:p.Ile1764Leufs
  • NP_001394611.1:p.Ile1764Leufs
  • NP_001394612.1:p.Ile1764Leufs
  • NP_001394613.1:p.Ile1764Leufs
  • NP_001394614.1:p.Ile1764Leufs
  • NP_001394615.1:p.Ile1764Leufs
  • NP_001394616.1:p.Ile1764Leufs
  • NP_001394617.1:p.Ile1764Leufs
  • NP_001394618.1:p.Ile1764Leufs
  • NP_001394619.1:p.Ile1763Leufs
  • NP_001394620.1:p.Ile1763Leufs
  • NP_001394621.1:p.Ile1760Leufs
  • NP_001394623.1:p.Ile1760Leufs
  • NP_001394624.1:p.Ile1760Leufs
  • NP_001394625.1:p.Ile1760Leufs
  • NP_001394626.1:p.Ile1760Leufs
  • NP_001394627.1:p.Ile1760Leufs
  • NP_001394653.1:p.Ile1760Leufs
  • NP_001394654.1:p.Ile1760Leufs
  • NP_001394655.1:p.Ile1760Leufs
  • NP_001394656.1:p.Ile1760Leufs
  • NP_001394657.1:p.Ile1760Leufs
  • NP_001394658.1:p.Ile1760Leufs
  • NP_001394659.1:p.Ile1760Leufs
  • NP_001394660.1:p.Ile1760Leufs
  • NP_001394661.1:p.Ile1759Leufs
  • NP_001394662.1:p.Ile1759Leufs
  • NP_001394663.1:p.Ile1759Leufs
  • NP_001394664.1:p.Ile1759Leufs
  • NP_001394665.1:p.Ile1759Leufs
  • NP_001394666.1:p.Ile1759Leufs
  • NP_001394667.1:p.Ile1759Leufs
  • NP_001394668.1:p.Ile1759Leufs
  • NP_001394669.1:p.Ile1759Leufs
  • NP_001394670.1:p.Ile1759Leufs
  • NP_001394671.1:p.Ile1759Leufs
  • NP_001394672.1:p.Ile1759Leufs
  • NP_001394673.1:p.Ile1759Leufs
  • NP_001394674.1:p.Ile1759Leufs
  • NP_001394675.1:p.Ile1759Leufs
  • NP_001394676.1:p.Ile1759Leufs
  • NP_001394677.1:p.Ile1759Leufs
  • NP_001394678.1:p.Ile1759Leufs
  • NP_001394679.1:p.Ile1759Leufs
  • NP_001394680.1:p.Ile1759Leufs
  • NP_001394681.1:p.Ile1759Leufs
  • NP_001394767.1:p.Ile1758Leufs
  • NP_001394768.1:p.Ile1758Leufs
  • NP_001394770.1:p.Ile1758Leufs
  • NP_001394771.1:p.Ile1758Leufs
  • NP_001394772.1:p.Ile1758Leufs
  • NP_001394773.1:p.Ile1758Leufs
  • NP_001394774.1:p.Ile1758Leufs
  • NP_001394775.1:p.Ile1758Leufs
  • NP_001394776.1:p.Ile1758Leufs
  • NP_001394777.1:p.Ile1758Leufs
  • NP_001394778.1:p.Ile1758Leufs
  • NP_001394779.1:p.Ile1758Leufs
  • NP_001394780.1:p.Ile1758Leufs
  • NP_001394781.1:p.Ile1758Leufs
  • NP_001394782.1:p.Ile1758Leufs
  • NP_001394783.1:p.Asn1782Ilefs
  • NP_001394787.1:p.Asn1781Ilefs
  • NP_001394788.1:p.Asn1781Ilefs
  • NP_001394789.1:p.Asn1781Ilefs
  • NP_001394790.1:p.Asn1780Ilefs
  • NP_001394791.1:p.Ile1740Leufs
  • NP_001394792.1:p.Ile1739Leufs
  • NP_001394803.1:p.Ile1738Leufs
  • NP_001394804.1:p.Ile1738Leufs
  • NP_001394808.1:p.Ile1737Leufs
  • NP_001394810.1:p.Ile1737Leufs
  • NP_001394811.1:p.Ile1737Leufs
  • NP_001394813.1:p.Ile1737Leufs
  • NP_001394814.1:p.Ile1737Leufs
  • NP_001394815.1:p.Ile1737Leufs
  • NP_001394816.1:p.Ile1737Leufs
  • NP_001394818.1:p.Ile1737Leufs
  • NP_001394823.1:p.Ile1736Leufs
  • NP_001394824.1:p.Ile1736Leufs
  • NP_001394825.1:p.Ile1736Leufs
  • NP_001394826.1:p.Ile1736Leufs
  • NP_001394827.1:p.Ile1736Leufs
  • NP_001394828.1:p.Ile1736Leufs
  • NP_001394829.1:p.Ile1736Leufs
  • NP_001394831.1:p.Ile1736Leufs
  • NP_001394833.1:p.Ile1736Leufs
  • NP_001394835.1:p.Ile1736Leufs
  • NP_001394836.1:p.Ile1736Leufs
  • NP_001394837.1:p.Ile1736Leufs
  • NP_001394838.1:p.Ile1736Leufs
  • NP_001394839.1:p.Ile1736Leufs
  • NP_001394844.1:p.Ile1735Leufs
  • NP_001394845.1:p.Ile1735Leufs
  • NP_001394846.1:p.Ile1735Leufs
  • NP_001394847.1:p.Ile1735Leufs
  • NP_001394848.1:p.Ile1723Leufs
  • NP_001394849.1:p.Ile1719Leufs
  • NP_001394850.1:p.Ile1719Leufs
  • NP_001394851.1:p.Ile1719Leufs
  • NP_001394852.1:p.Ile1719Leufs
  • NP_001394853.1:p.Ile1719Leufs
  • NP_001394854.1:p.Ile1719Leufs
  • NP_001394855.1:p.Ile1719Leufs
  • NP_001394856.1:p.Ile1718Leufs
  • NP_001394857.1:p.Ile1718Leufs
  • NP_001394858.1:p.Ile1718Leufs
  • NP_001394859.1:p.Ile1718Leufs
  • NP_001394860.1:p.Ile1718Leufs
  • NP_001394861.1:p.Ile1718Leufs
  • NP_001394862.1:p.Ile1718Leufs
  • NP_001394863.1:p.Ile1717Leufs
  • NP_001394864.1:p.Ile1717Leufs
  • NP_001394865.1:p.Ile1717Leufs
  • NP_001394866.1:p.Asn1741Ilefs
  • NP_001394867.1:p.Asn1741Ilefs
  • NP_001394868.1:p.Asn1740Ilefs
  • NP_001394869.1:p.Asn1740Ilefs
  • NP_001394870.1:p.Asn1739Ilefs
  • NP_001394871.1:p.Asn1735Ilefs
  • NP_001394872.1:p.Asn1734Ilefs
  • NP_001394873.1:p.Asn1734Ilefs
  • NP_001394874.1:p.Asn1734Ilefs
  • NP_001394875.1:p.Ile1696Leufs
  • NP_001394876.1:p.Ile1696Leufs
  • NP_001394877.1:p.Ile1696Leufs
  • NP_001394878.1:p.Ile1696Leufs
  • NP_001394879.1:p.Ile1695Leufs
  • NP_001394880.1:p.Ile1695Leufs
  • NP_001394881.1:p.Ile1695Leufs
  • NP_001394882.1:p.Ile1695Leufs
  • NP_001394883.1:p.Ile1695Leufs
  • NP_001394884.1:p.Ile1695Leufs
  • NP_001394885.1:p.Ile1694Leufs
  • NP_001394886.1:p.Ile1694Leufs
  • NP_001394887.1:p.Ile1694Leufs
  • NP_001394888.1:p.Ile1680Leufs
  • NP_001394889.1:p.Ile1679Leufs
  • NP_001394891.1:p.Ile1679Leufs
  • NP_001394892.1:p.Ile1678Leufs
  • NP_001394893.1:p.Ile1653Leufs
  • NP_001394894.1:p.Ile1638Leufs
  • NP_001394895.1:p.Ile1511Leufs
  • NP_001394896.1:p.Ile1510Leufs
  • NP_001394897.1:p.Ile939Leufs
  • NP_001394898.1:p.Ile938Leufs
  • NP_001394899.1:p.Ile726Leufs
  • NP_001394900.1:p.Ile726Leufs
  • NP_001394901.1:p.Ile725Leufs
  • NP_001394902.1:p.Ile704Leufs
  • NP_001394903.1:p.Ile704Leufs
  • NP_001394904.1:p.Ile704Leufs
  • NP_001394905.1:p.Ile704Leufs
  • NP_001394906.1:p.Ile704Leufs
  • NP_001394907.1:p.Ile704Leufs
  • NP_001394908.1:p.Ile703Leufs
  • NP_001394909.1:p.Ile703Leufs
  • NP_001394910.1:p.Ile703Leufs
  • NP_001394911.1:p.Ile703Leufs
  • NP_001394912.1:p.Ile703Leufs
  • NP_001394913.1:p.Ile703Leufs
  • NP_001394914.1:p.Ile703Leufs
  • NP_001394915.1:p.Ile703Leufs
  • NP_001394919.1:p.Ile703Leufs
  • NP_001394920.1:p.Ile703Leufs
  • NP_001394921.1:p.Ile703Leufs
  • NP_001394922.1:p.Ile703Leufs
  • NP_001395321.1:p.Ile702Leufs
  • NP_001395325.1:p.Ile702Leufs
  • NP_001395326.1:p.Ile702Leufs
  • NP_001395327.1:p.Ile702Leufs
  • NP_001395328.1:p.Ile702Leufs
  • NP_001395329.1:p.Ile702Leufs
  • NP_001395330.1:p.Ile702Leufs
  • NP_001395331.1:p.Ile702Leufs
  • NP_001395332.1:p.Ile702Leufs
  • NP_001395333.1:p.Ile702Leufs
  • NP_001395335.1:p.Ile701Leufs
  • NP_001395336.1:p.Ile701Leufs
  • NP_001395337.1:p.Ile701Leufs
  • NP_001395338.1:p.Ile700Leufs
  • NP_001395339.1:p.Ile679Leufs
  • NP_001395340.1:p.Ile678Leufs
  • NP_001395341.1:p.Ile677Leufs
  • NP_001395342.1:p.Ile677Leufs
  • NP_001395343.1:p.Ile677Leufs
  • NP_001395344.1:p.Ile677Leufs
  • NP_001395345.1:p.Ile677Leufs
  • NP_001395347.1:p.Ile665Leufs
  • NP_001395348.1:p.Ile665Leufs
  • NP_001395349.1:p.Ile665Leufs
  • NP_001395350.1:p.Ile664Leufs
  • NP_001395351.1:p.Ile664Leufs
  • NP_001395352.1:p.Ile664Leufs
  • NP_001395353.1:p.Ile664Leufs
  • NP_001395354.1:p.Ile663Leufs
  • NP_001395355.1:p.Ile663Leufs
  • NP_001395356.1:p.Ile663Leufs
  • NP_001395357.1:p.Ile663Leufs
  • NP_001395358.1:p.Ile663Leufs
  • NP_001395359.1:p.Ile663Leufs
  • NP_001395360.1:p.Ile663Leufs
  • NP_001395361.1:p.Ile662Leufs
  • NP_001395362.1:p.Ile662Leufs
  • NP_001395363.1:p.Ile662Leufs
  • NP_001395364.1:p.Ile662Leufs
  • NP_001395365.1:p.Ile662Leufs
  • NP_001395366.1:p.Ile662Leufs
  • NP_001395367.1:p.Ile662Leufs
  • NP_001395368.1:p.Ile662Leufs
  • NP_001395369.1:p.Ile662Leufs
  • NP_001395370.1:p.Ile662Leufs
  • NP_001395371.1:p.Ile662Leufs
  • NP_001395372.1:p.Ile662Leufs
  • NP_001395373.1:p.Ile662Leufs
  • NP_001395374.1:p.Ile661Leufs
  • NP_001395375.1:p.Ile661Leufs
  • NP_001395376.1:p.Ile661Leufs
  • NP_001395377.1:p.Ile661Leufs
  • NP_001395379.1:p.Ile661Leufs
  • NP_001395380.1:p.Ile659Leufs
  • NP_001395381.1:p.Ile657Leufs
  • NP_001395382.1:p.Ile657Leufs
  • NP_001395383.1:p.Ile657Leufs
  • NP_001395384.1:p.Ile657Leufs
  • NP_001395385.1:p.Ile657Leufs
  • NP_001395386.1:p.Ile657Leufs
  • NP_001395387.1:p.Ile656Leufs
  • NP_001395388.1:p.Ile656Leufs
  • NP_001395389.1:p.Ile656Leufs
  • NP_001395390.1:p.Ile656Leufs
  • NP_001395391.1:p.Ile656Leufs
  • NP_001395392.1:p.Ile656Leufs
  • NP_001395393.1:p.Ile656Leufs
  • NP_001395394.1:p.Ile656Leufs
  • NP_001395395.1:p.Ile656Leufs
  • NP_001395396.1:p.Ile656Leufs
  • NP_001395397.1:p.Ile655Leufs
  • NP_001395398.1:p.Ile655Leufs
  • NP_001395399.1:p.Ile655Leufs
  • NP_001395401.1:p.Asn678Ilefs
  • NP_001395402.1:p.Asn677Ilefs
  • NP_001395403.1:p.Ile637Leufs
  • NP_001395404.1:p.Ile636Leufs
  • NP_001395405.1:p.Ile636Leufs
  • NP_001395407.1:p.Ile634Leufs
  • NP_001395408.1:p.Ile634Leufs
  • NP_001395409.1:p.Ile634Leufs
  • NP_001395410.1:p.Ile633Leufs
  • NP_001395411.1:p.Ile633Leufs
  • NP_001395412.1:p.Ile633Leufs
  • NP_001395413.1:p.Ile633Leufs
  • NP_001395414.1:p.Ile633Leufs
  • NP_001395418.1:p.Ile633Leufs
  • NP_001395419.1:p.Ile633Leufs
  • NP_001395420.1:p.Ile633Leufs
  • NP_001395421.1:p.Ile632Leufs
  • NP_001395422.1:p.Ile632Leufs
  • NP_001395423.1:p.Ile624Leufs
  • NP_001395424.1:p.Ile622Leufs
  • NP_001395425.1:p.Ile616Leufs
  • NP_001395426.1:p.Ile616Leufs
  • NP_001395427.1:p.Ile616Leufs
  • NP_001395428.1:p.Ile616Leufs
  • NP_001395429.1:p.Ile616Leufs
  • NP_001395430.1:p.Ile616Leufs
  • NP_001395431.1:p.Ile615Leufs
  • NP_001395432.1:p.Ile615Leufs
  • NP_001395433.1:p.Ile615Leufs
  • NP_001395434.1:p.Ile614Leufs
  • NP_001395435.1:p.Ile595Leufs
  • NP_001395436.1:p.Ile594Leufs
  • NP_001395437.1:p.Ile591Leufs
  • NP_001395438.1:p.Ile590Leufs
  • NP_001395439.1:p.Ile577Leufs
  • NP_001395440.1:p.Ile576Leufs
  • NP_001395441.1:p.Ile536Leufs
  • NP_001395442.1:p.Ile527Leufs
  • NP_001395443.1:p.Ile395Leufs
  • NP_009225.1:p.Ile1807Leufs
  • NP_009225.1:p.Ile1807fs
  • NP_009228.2:p.Ile1760fs
  • NP_009229.2:p.Ile703Leufs
  • NP_009229.2:p.Ile703fs
  • NP_009230.2:p.Asn678fs
  • NP_009231.2:p.Ile1828fs
  • NP_009235.2:p.Ile703Leufs
  • LRG_292t1:c.5418del
  • LRG_292:g.170293del
  • LRG_292p1:p.Ile1807Leufs
  • NC_000017.10:g.41199708delT
  • NC_000017.10:g.41199709del
  • NM_007294.3:c.5418delA
  • NM_007294.3:c.5419delA
  • NM_007298.3:c.2107del
  • NR_027676.2:n.5596del
  • U14680.1:n.5537delA
Protein change:
I1760fs
Links:
Breast Cancer Information Core (BIC) (BRCA1): 5537&base_change=del A; dbSNP: rs80357934
NCBI 1000 Genomes Browser:
rs80357934
Molecular consequence:
  • NM_001407571.1:c.5205delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407581.1:c.5484delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407582.1:c.5484delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407583.1:c.5481delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407585.1:c.5481delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407587.1:c.5481delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407590.1:c.5478delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407591.1:c.5478delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407593.1:c.5418delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407594.1:c.5418delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407596.1:c.5418delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407597.1:c.5418delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407598.1:c.5418delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407602.1:c.5418delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407603.1:c.5418delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407605.1:c.5418delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407610.1:c.5415delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407611.1:c.5415delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407612.1:c.5415delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407613.1:c.5415delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407614.1:c.5415delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407615.1:c.5415delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407616.1:c.5415delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407617.1:c.5415delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407618.1:c.5415delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407619.1:c.5415delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407620.1:c.5415delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407621.1:c.5415delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407622.1:c.5415delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407623.1:c.5415delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407624.1:c.5415delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407625.1:c.5415delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407626.1:c.5415delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407627.1:c.5412delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407628.1:c.5412delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407629.1:c.5412delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407630.1:c.5412delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407631.1:c.5412delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407632.1:c.5412delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407633.1:c.5412delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407634.1:c.5412delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407635.1:c.5412delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407636.1:c.5412delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407637.1:c.5412delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407638.1:c.5412delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407639.1:c.5412delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407640.1:c.5412delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407641.1:c.5412delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407642.1:c.5412delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407644.1:c.5409delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407645.1:c.5409delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407646.1:c.5406delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407647.1:c.5403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407648.1:c.5361delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407649.1:c.5358delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407652.1:c.5340delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407653.1:c.5340delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407654.1:c.5340delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407655.1:c.5340delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407656.1:c.5337delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407657.1:c.5337delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407658.1:c.5337delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407659.1:c.5334delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407660.1:c.5334delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407661.1:c.5334delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407662.1:c.5334delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407663.1:c.5334delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407664.1:c.5295delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407665.1:c.5295delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407666.1:c.5295delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407667.1:c.5295delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407668.1:c.5295delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407669.1:c.5295delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407670.1:c.5292delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407671.1:c.5292delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407672.1:c.5292delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407673.1:c.5292delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407674.1:c.5292delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407675.1:c.5292delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407676.1:c.5292delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407677.1:c.5292delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407678.1:c.5292delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407679.1:c.5292delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407680.1:c.5292delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407681.1:c.5289delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407682.1:c.5289delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407683.1:c.5289delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407684.1:c.5289delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407685.1:c.5289delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407686.1:c.5289delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407687.1:c.5289delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407688.1:c.5289delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407689.1:c.5289delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407690.1:c.5286delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407691.1:c.5286delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407692.1:c.5277delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407694.1:c.5277delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407695.1:c.5277delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407696.1:c.5277delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407697.1:c.5277delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407698.1:c.5277delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407724.1:c.5277delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407725.1:c.5277delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407726.1:c.5277delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407727.1:c.5277delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407728.1:c.5277delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407729.1:c.5277delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407730.1:c.5277delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407731.1:c.5277delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407732.1:c.5274delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407733.1:c.5274delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407734.1:c.5274delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407735.1:c.5274delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407736.1:c.5274delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407737.1:c.5274delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407738.1:c.5274delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407739.1:c.5274delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407740.1:c.5274delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407741.1:c.5274delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407742.1:c.5274delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407743.1:c.5274delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407744.1:c.5274delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407745.1:c.5274delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407746.1:c.5274delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407747.1:c.5274delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407748.1:c.5274delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407749.1:c.5274delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407750.1:c.5274delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407751.1:c.5274delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407752.1:c.5274delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407838.1:c.5271delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407839.1:c.5271delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407841.1:c.5271delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407842.1:c.5271delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407843.1:c.5271delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407844.1:c.5271delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407845.1:c.5271delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407846.1:c.5271delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407847.1:c.5271delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407848.1:c.5271delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407849.1:c.5271delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407850.1:c.5271delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407851.1:c.5271delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407852.1:c.5271delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407853.1:c.5271delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407854.1:c.5344delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407858.1:c.5341delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407859.1:c.5341delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407860.1:c.5341delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407861.1:c.5338delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407862.1:c.5217delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407863.1:c.5214delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407874.1:c.5211delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407875.1:c.5211delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407879.1:c.5208delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407881.1:c.5208delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407882.1:c.5208delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407884.1:c.5208delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407885.1:c.5208delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407886.1:c.5208delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407887.1:c.5208delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407889.1:c.5208delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407894.1:c.5205delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407895.1:c.5205delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407896.1:c.5205delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407897.1:c.5205delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407898.1:c.5205delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407899.1:c.5205delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407900.1:c.5205delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407902.1:c.5205delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407904.1:c.5205delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407906.1:c.5205delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407907.1:c.5205delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407908.1:c.5205delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407909.1:c.5205delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407910.1:c.5205delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407915.1:c.5202delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407916.1:c.5202delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407917.1:c.5202delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407918.1:c.5202delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407919.1:c.5166delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407920.1:c.5154delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407921.1:c.5154delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407922.1:c.5154delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407923.1:c.5154delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407924.1:c.5154delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407925.1:c.5154delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407926.1:c.5154delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407927.1:c.5151delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407928.1:c.5151delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407929.1:c.5151delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407930.1:c.5151delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407931.1:c.5151delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407932.1:c.5151delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407933.1:c.5151delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407934.1:c.5148delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407935.1:c.5148delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407936.1:c.5148delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407937.1:c.5221delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407938.1:c.5221delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407939.1:c.5218delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407940.1:c.5218delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407941.1:c.5215delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407942.1:c.5203delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407943.1:c.5200delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407944.1:c.5200delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407945.1:c.5200delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407946.1:c.5085delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407947.1:c.5085delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407948.1:c.5085delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407949.1:c.5085delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407950.1:c.5082delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407951.1:c.5082delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407952.1:c.5082delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407953.1:c.5082delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407954.1:c.5082delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407955.1:c.5082delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407956.1:c.5079delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407957.1:c.5079delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407958.1:c.5079delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407959.1:c.5037delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407960.1:c.5034delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407962.1:c.5034delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407963.1:c.5031delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407964.1:c.4956delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407965.1:c.4911delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407966.1:c.4530delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407967.1:c.4527delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407968.1:c.2814delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407969.1:c.2811delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407970.1:c.2175delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407971.1:c.2175delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407972.1:c.2172delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407973.1:c.2109delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407974.1:c.2109delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407975.1:c.2109delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407976.1:c.2109delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407977.1:c.2109delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407978.1:c.2109delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407979.1:c.2106delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407980.1:c.2106delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407981.1:c.2106delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407982.1:c.2106delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407983.1:c.2106delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407984.1:c.2106delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407985.1:c.2106delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407986.1:c.2106delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407990.1:c.2106delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407991.1:c.2106delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407992.1:c.2106delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407993.1:c.2106delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408392.1:c.2103delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408396.1:c.2103delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408397.1:c.2103delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408398.1:c.2103delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408399.1:c.2103delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408400.1:c.2103delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408401.1:c.2103delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408402.1:c.2103delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408403.1:c.2103delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408404.1:c.2103delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408406.1:c.2100delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408407.1:c.2100delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408408.1:c.2100delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408409.1:c.2097delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408410.1:c.2034delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408411.1:c.2031delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408412.1:c.2028delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408413.1:c.2028delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408414.1:c.2028delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408415.1:c.2028delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408416.1:c.2028delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408418.1:c.1992delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408419.1:c.1992delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408420.1:c.1992delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408421.1:c.1989delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408422.1:c.1989delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408423.1:c.1989delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408424.1:c.1989delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408425.1:c.1986delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408426.1:c.1986delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408427.1:c.1986delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408428.1:c.1986delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408429.1:c.1986delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408430.1:c.1986delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408431.1:c.1986delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408432.1:c.1983delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408433.1:c.1983delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408434.1:c.1983delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408435.1:c.1983delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408436.1:c.1983delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408437.1:c.1983delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408438.1:c.1983delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408439.1:c.1983delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408440.1:c.1983delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408441.1:c.1983delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408442.1:c.1983delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408443.1:c.1983delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408444.1:c.1983delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408445.1:c.1980delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408446.1:c.1980delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408447.1:c.1980delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408448.1:c.1980delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408450.1:c.1980delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408451.1:c.1974delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408452.1:c.1968delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408453.1:c.1968delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408454.1:c.1968delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408455.1:c.1968delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408456.1:c.1968delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408457.1:c.1968delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408458.1:c.1965delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408459.1:c.1965delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408460.1:c.1965delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408461.1:c.1965delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408462.1:c.1965delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408463.1:c.1965delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408464.1:c.1965delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408465.1:c.1965delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408466.1:c.1965delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408467.1:c.1965delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408468.1:c.1962delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408469.1:c.1962delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408470.1:c.1962delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408472.1:c.2032delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408473.1:c.2029delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408474.1:c.1908delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408475.1:c.1905delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408476.1:c.1905delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408478.1:c.1899delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408479.1:c.1899delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408480.1:c.1899delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408481.1:c.1896delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408482.1:c.1896delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408483.1:c.1896delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408484.1:c.1896delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408485.1:c.1896delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408489.1:c.1896delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408490.1:c.1896delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408491.1:c.1896delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408492.1:c.1893delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408493.1:c.1893delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408494.1:c.1869delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408495.1:c.1863delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408496.1:c.1845delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408497.1:c.1845delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408498.1:c.1845delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408499.1:c.1845delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408500.1:c.1845delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408501.1:c.1845delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408502.1:c.1842delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408503.1:c.1842delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408504.1:c.1842delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408505.1:c.1839delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408506.1:c.1782delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408507.1:c.1779delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408508.1:c.1770delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408509.1:c.1767delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408510.1:c.1728delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408511.1:c.1725delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408512.1:c.1605delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408513.1:c.1578delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408514.1:c.1182delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007294.4:c.5419del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007297.4:c.5278del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007298.4:c.2106delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007299.4:c.2033del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007300.4:c.5482del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007304.2:c.2106delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_027676.2:n.5596del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
10

Condition(s)

Name:
Breast-ovarian cancer, familial, susceptibility to, 1 (BROVCA1)
Synonyms:
OVARIAN CANCER, SUSCEPTIBILITY TO; Breast cancer, familial 1
Identifiers:
MONDO: MONDO:0011450; MedGen: C2676676; Orphanet: 145; OMIM: 604370

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000145507Breast Cancer Information Core (BIC) (BRCA1)
no assertion criteria provided
Pathogenic
(Feb 20, 2004)
germlineclinical testing

SCV000300257Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
reviewed by expert panel

(ENIGMA BRCA1/2 Classification Criteria (2015))
Pathogenic
(Sep 8, 2016)
germlinecuration

ENIGMA BRCA1/2 Classification Criteria (2015),

Citation Link,

SCV000326309Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge
criteria provided, single submitter

(CIMBA Mutation Classification guidelines May 2016)
Pathogenic
(Oct 2, 2015)
germlineclinical testing

CIMBA_Mutation_Classification_guidelines_May16.pdf,

Citation Link,

SCV000577940Genologica Medica

See additional submitters

criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenic
(Jan 1, 2017)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot provided6not providednot providednot providedclinical testing, curation
Caucasiangermlineyes1not providednot providednot providednot providedclinical testing
Causasiansgermlineyesnot provided4not providednot providedyesclinical testing
Spanishgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA1), SCV000145507.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasian1not providednot providedclinical testingnot provided
2Spanish1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided
2germlineyesnot providednot providednot provided1not providednot providednot provided

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000300257.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Variant allele predicted to encode a truncated non-functional protein.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge, SCV000326309.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot provided6not provided

From Genologica Medica, SCV000577940.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Causasiansnot providednot providedyesclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providedBloodnot providednot providednot provided4not provided

Last Updated: Oct 26, 2024