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NM_007294.4(BRCA1):c.5241del (p.Gly1748fs) AND Breast carcinoma

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 8, 2021
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001553815.9

Allele description [Variation Report for NM_007294.4(BRCA1):c.5241del (p.Gly1748fs)]

NM_007294.4(BRCA1):c.5241del (p.Gly1748fs)

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.5241del (p.Gly1748fs)
Other names:
5360delA
HGVS:
  • NC_000017.11:g.43057089del
  • NG_005905.2:g.160896del
  • NM_001407571.1:c.5027delA
  • NM_001407581.1:c.5306delA
  • NM_001407582.1:c.5306delA
  • NM_001407583.1:c.5303delA
  • NM_001407585.1:c.5303delA
  • NM_001407587.1:c.5303delA
  • NM_001407590.1:c.5300delA
  • NM_001407591.1:c.5300delA
  • NM_001407593.1:c.5240delA
  • NM_001407594.1:c.5240delA
  • NM_001407596.1:c.5240delA
  • NM_001407597.1:c.5240delA
  • NM_001407598.1:c.5240delA
  • NM_001407602.1:c.5240delA
  • NM_001407603.1:c.5240delA
  • NM_001407605.1:c.5240delA
  • NM_001407610.1:c.5237delA
  • NM_001407611.1:c.5237delA
  • NM_001407612.1:c.5237delA
  • NM_001407613.1:c.5237delA
  • NM_001407614.1:c.5237delA
  • NM_001407615.1:c.5237delA
  • NM_001407616.1:c.5237delA
  • NM_001407617.1:c.5237delA
  • NM_001407618.1:c.5237delA
  • NM_001407619.1:c.5237delA
  • NM_001407620.1:c.5237delA
  • NM_001407621.1:c.5237delA
  • NM_001407622.1:c.5237delA
  • NM_001407623.1:c.5237delA
  • NM_001407624.1:c.5237delA
  • NM_001407625.1:c.5237delA
  • NM_001407626.1:c.5237delA
  • NM_001407627.1:c.5234delA
  • NM_001407628.1:c.5234delA
  • NM_001407629.1:c.5234delA
  • NM_001407630.1:c.5234delA
  • NM_001407631.1:c.5234delA
  • NM_001407632.1:c.5234delA
  • NM_001407633.1:c.5234delA
  • NM_001407634.1:c.5234delA
  • NM_001407635.1:c.5234delA
  • NM_001407636.1:c.5234delA
  • NM_001407637.1:c.5234delA
  • NM_001407638.1:c.5234delA
  • NM_001407639.1:c.5234delA
  • NM_001407640.1:c.5234delA
  • NM_001407641.1:c.5234delA
  • NM_001407642.1:c.5234delA
  • NM_001407644.1:c.5231delA
  • NM_001407645.1:c.5231delA
  • NM_001407646.1:c.5228delA
  • NM_001407647.1:c.5225delA
  • NM_001407648.1:c.5183delA
  • NM_001407649.1:c.5180delA
  • NM_001407652.1:c.5162delA
  • NM_001407653.1:c.5162delA
  • NM_001407654.1:c.5162delA
  • NM_001407655.1:c.5162delA
  • NM_001407656.1:c.5159delA
  • NM_001407657.1:c.5159delA
  • NM_001407658.1:c.5159delA
  • NM_001407659.1:c.5156delA
  • NM_001407660.1:c.5156delA
  • NM_001407661.1:c.5156delA
  • NM_001407662.1:c.5156delA
  • NM_001407663.1:c.5156delA
  • NM_001407664.1:c.5117delA
  • NM_001407665.1:c.5117delA
  • NM_001407666.1:c.5117delA
  • NM_001407667.1:c.5117delA
  • NM_001407668.1:c.5117delA
  • NM_001407669.1:c.5117delA
  • NM_001407670.1:c.5114delA
  • NM_001407671.1:c.5114delA
  • NM_001407672.1:c.5114delA
  • NM_001407673.1:c.5114delA
  • NM_001407674.1:c.5114delA
  • NM_001407675.1:c.5114delA
  • NM_001407676.1:c.5114delA
  • NM_001407677.1:c.5114delA
  • NM_001407678.1:c.5114delA
  • NM_001407679.1:c.5114delA
  • NM_001407680.1:c.5114delA
  • NM_001407681.1:c.5111delA
  • NM_001407682.1:c.5111delA
  • NM_001407683.1:c.5111delA
  • NM_001407684.1:c.5240delA
  • NM_001407685.1:c.5111delA
  • NM_001407686.1:c.5111delA
  • NM_001407687.1:c.5111delA
  • NM_001407688.1:c.5111delA
  • NM_001407689.1:c.5111delA
  • NM_001407690.1:c.5108delA
  • NM_001407691.1:c.5108delA
  • NM_001407692.1:c.5099delA
  • NM_001407694.1:c.5099delA
  • NM_001407695.1:c.5099delA
  • NM_001407696.1:c.5099delA
  • NM_001407697.1:c.5099delA
  • NM_001407698.1:c.5099delA
  • NM_001407724.1:c.5099delA
  • NM_001407725.1:c.5099delA
  • NM_001407726.1:c.5099delA
  • NM_001407727.1:c.5099delA
  • NM_001407728.1:c.5099delA
  • NM_001407729.1:c.5099delA
  • NM_001407730.1:c.5099delA
  • NM_001407731.1:c.5099delA
  • NM_001407732.1:c.5096delA
  • NM_001407733.1:c.5096delA
  • NM_001407734.1:c.5096delA
  • NM_001407735.1:c.5096delA
  • NM_001407736.1:c.5096delA
  • NM_001407737.1:c.5096delA
  • NM_001407738.1:c.5096delA
  • NM_001407739.1:c.5096delA
  • NM_001407740.1:c.5096delA
  • NM_001407741.1:c.5096delA
  • NM_001407742.1:c.5096delA
  • NM_001407743.1:c.5096delA
  • NM_001407744.1:c.5096delA
  • NM_001407745.1:c.5096delA
  • NM_001407746.1:c.5096delA
  • NM_001407747.1:c.5096delA
  • NM_001407748.1:c.5096delA
  • NM_001407749.1:c.5096delA
  • NM_001407750.1:c.5096delA
  • NM_001407751.1:c.5096delA
  • NM_001407752.1:c.5096delA
  • NM_001407838.1:c.5093delA
  • NM_001407839.1:c.5093delA
  • NM_001407841.1:c.5093delA
  • NM_001407842.1:c.5093delA
  • NM_001407843.1:c.5093delA
  • NM_001407844.1:c.5093delA
  • NM_001407845.1:c.5093delA
  • NM_001407846.1:c.5093delA
  • NM_001407847.1:c.5093delA
  • NM_001407848.1:c.5093delA
  • NM_001407849.1:c.5093delA
  • NM_001407850.1:c.5093delA
  • NM_001407851.1:c.5093delA
  • NM_001407852.1:c.5093delA
  • NM_001407853.1:c.5093delA
  • NM_001407854.1:c.5240delA
  • NM_001407858.1:c.5237delA
  • NM_001407859.1:c.5237delA
  • NM_001407860.1:c.5237delA
  • NM_001407861.1:c.5234delA
  • NM_001407862.1:c.5039delA
  • NM_001407863.1:c.5036delA
  • NM_001407874.1:c.5033delA
  • NM_001407875.1:c.5033delA
  • NM_001407879.1:c.5030delA
  • NM_001407881.1:c.5030delA
  • NM_001407882.1:c.5030delA
  • NM_001407884.1:c.5030delA
  • NM_001407885.1:c.5030delA
  • NM_001407886.1:c.5030delA
  • NM_001407887.1:c.5030delA
  • NM_001407889.1:c.5030delA
  • NM_001407894.1:c.5027delA
  • NM_001407895.1:c.5027delA
  • NM_001407896.1:c.5027delA
  • NM_001407897.1:c.5027delA
  • NM_001407898.1:c.5027delA
  • NM_001407899.1:c.5027delA
  • NM_001407900.1:c.5027delA
  • NM_001407902.1:c.5027delA
  • NM_001407904.1:c.5027delA
  • NM_001407906.1:c.5027delA
  • NM_001407907.1:c.5027delA
  • NM_001407908.1:c.5027delA
  • NM_001407909.1:c.5027delA
  • NM_001407910.1:c.5027delA
  • NM_001407915.1:c.5024delA
  • NM_001407916.1:c.5024delA
  • NM_001407917.1:c.5024delA
  • NM_001407918.1:c.5024delA
  • NM_001407919.1:c.5117delA
  • NM_001407920.1:c.4976delA
  • NM_001407921.1:c.4976delA
  • NM_001407922.1:c.4976delA
  • NM_001407923.1:c.4976delA
  • NM_001407924.1:c.4976delA
  • NM_001407925.1:c.4976delA
  • NM_001407926.1:c.4976delA
  • NM_001407927.1:c.4973delA
  • NM_001407928.1:c.4973delA
  • NM_001407929.1:c.4973delA
  • NM_001407930.1:c.4973delA
  • NM_001407931.1:c.4973delA
  • NM_001407932.1:c.4973delA
  • NM_001407933.1:c.4973delA
  • NM_001407934.1:c.4970delA
  • NM_001407935.1:c.4970delA
  • NM_001407936.1:c.4970delA
  • NM_001407937.1:c.5117delA
  • NM_001407938.1:c.5117delA
  • NM_001407939.1:c.5114delA
  • NM_001407940.1:c.5114delA
  • NM_001407941.1:c.5111delA
  • NM_001407942.1:c.5099delA
  • NM_001407943.1:c.5096delA
  • NM_001407944.1:c.5096delA
  • NM_001407945.1:c.5096delA
  • NM_001407946.1:c.4907delA
  • NM_001407947.1:c.4907delA
  • NM_001407948.1:c.4907delA
  • NM_001407949.1:c.4907delA
  • NM_001407950.1:c.4904delA
  • NM_001407951.1:c.4904delA
  • NM_001407952.1:c.4904delA
  • NM_001407953.1:c.4904delA
  • NM_001407954.1:c.4904delA
  • NM_001407955.1:c.4904delA
  • NM_001407956.1:c.4901delA
  • NM_001407957.1:c.4901delA
  • NM_001407958.1:c.4901delA
  • NM_001407959.1:c.4859delA
  • NM_001407960.1:c.4856delA
  • NM_001407962.1:c.4856delA
  • NM_001407963.1:c.4853delA
  • NM_001407964.1:c.4778delA
  • NM_001407965.1:c.4733delA
  • NM_001407966.1:c.4352delA
  • NM_001407967.1:c.4349delA
  • NM_001407968.1:c.2636delA
  • NM_001407969.1:c.2633delA
  • NM_001407970.1:c.1997delA
  • NM_001407971.1:c.1997delA
  • NM_001407972.1:c.1994delA
  • NM_001407973.1:c.1931delA
  • NM_001407974.1:c.1931delA
  • NM_001407975.1:c.1931delA
  • NM_001407976.1:c.1931delA
  • NM_001407977.1:c.1931delA
  • NM_001407978.1:c.1931delA
  • NM_001407979.1:c.1928delA
  • NM_001407980.1:c.1928delA
  • NM_001407981.1:c.1928delA
  • NM_001407982.1:c.1928delA
  • NM_001407983.1:c.1928delA
  • NM_001407984.1:c.1928delA
  • NM_001407985.1:c.1928delA
  • NM_001407986.1:c.1928delA
  • NM_001407990.1:c.1928delA
  • NM_001407991.1:c.1928delA
  • NM_001407992.1:c.1928delA
  • NM_001407993.1:c.1928delA
  • NM_001408392.1:c.1925delA
  • NM_001408396.1:c.1925delA
  • NM_001408397.1:c.1925delA
  • NM_001408398.1:c.1925delA
  • NM_001408399.1:c.1925delA
  • NM_001408400.1:c.1925delA
  • NM_001408401.1:c.1925delA
  • NM_001408402.1:c.1925delA
  • NM_001408403.1:c.1925delA
  • NM_001408404.1:c.1925delA
  • NM_001408406.1:c.1922delA
  • NM_001408407.1:c.1922delA
  • NM_001408408.1:c.1922delA
  • NM_001408409.1:c.1919delA
  • NM_001408410.1:c.1856delA
  • NM_001408411.1:c.1853delA
  • NM_001408412.1:c.1850delA
  • NM_001408413.1:c.1850delA
  • NM_001408414.1:c.1850delA
  • NM_001408415.1:c.1850delA
  • NM_001408416.1:c.1850delA
  • NM_001408418.1:c.1814delA
  • NM_001408419.1:c.1814delA
  • NM_001408420.1:c.1814delA
  • NM_001408421.1:c.1811delA
  • NM_001408422.1:c.1811delA
  • NM_001408423.1:c.1811delA
  • NM_001408424.1:c.1811delA
  • NM_001408425.1:c.1808delA
  • NM_001408426.1:c.1808delA
  • NM_001408427.1:c.1808delA
  • NM_001408428.1:c.1808delA
  • NM_001408429.1:c.1808delA
  • NM_001408430.1:c.1808delA
  • NM_001408431.1:c.1808delA
  • NM_001408432.1:c.1805delA
  • NM_001408433.1:c.1805delA
  • NM_001408434.1:c.1805delA
  • NM_001408435.1:c.1805delA
  • NM_001408436.1:c.1805delA
  • NM_001408437.1:c.1805delA
  • NM_001408438.1:c.1805delA
  • NM_001408439.1:c.1805delA
  • NM_001408440.1:c.1805delA
  • NM_001408441.1:c.1805delA
  • NM_001408442.1:c.1805delA
  • NM_001408443.1:c.1805delA
  • NM_001408444.1:c.1805delA
  • NM_001408445.1:c.1802delA
  • NM_001408446.1:c.1802delA
  • NM_001408447.1:c.1802delA
  • NM_001408448.1:c.1802delA
  • NM_001408450.1:c.1802delA
  • NM_001408451.1:c.1796delA
  • NM_001408452.1:c.1790delA
  • NM_001408453.1:c.1790delA
  • NM_001408454.1:c.1790delA
  • NM_001408455.1:c.1790delA
  • NM_001408456.1:c.1790delA
  • NM_001408457.1:c.1790delA
  • NM_001408458.1:c.1787delA
  • NM_001408459.1:c.1787delA
  • NM_001408460.1:c.1787delA
  • NM_001408461.1:c.1787delA
  • NM_001408462.1:c.1787delA
  • NM_001408463.1:c.1787delA
  • NM_001408464.1:c.1787delA
  • NM_001408465.1:c.1787delA
  • NM_001408466.1:c.1787delA
  • NM_001408467.1:c.1787delA
  • NM_001408468.1:c.1784delA
  • NM_001408469.1:c.1784delA
  • NM_001408470.1:c.1784delA
  • NM_001408472.1:c.1928delA
  • NM_001408473.1:c.1925delA
  • NM_001408474.1:c.1730delA
  • NM_001408475.1:c.1727delA
  • NM_001408476.1:c.1727delA
  • NM_001408478.1:c.1721delA
  • NM_001408479.1:c.1721delA
  • NM_001408480.1:c.1721delA
  • NM_001408481.1:c.1718delA
  • NM_001408482.1:c.1718delA
  • NM_001408483.1:c.1718delA
  • NM_001408484.1:c.1718delA
  • NM_001408485.1:c.1718delA
  • NM_001408489.1:c.1718delA
  • NM_001408490.1:c.1718delA
  • NM_001408491.1:c.1718delA
  • NM_001408492.1:c.1715delA
  • NM_001408493.1:c.1715delA
  • NM_001408494.1:c.1691delA
  • NM_001408495.1:c.1685delA
  • NM_001408496.1:c.1667delA
  • NM_001408497.1:c.1667delA
  • NM_001408498.1:c.1667delA
  • NM_001408499.1:c.1667delA
  • NM_001408500.1:c.1667delA
  • NM_001408501.1:c.1667delA
  • NM_001408502.1:c.1664delA
  • NM_001408503.1:c.1664delA
  • NM_001408504.1:c.1664delA
  • NM_001408505.1:c.1661delA
  • NM_001408506.1:c.1604delA
  • NM_001408507.1:c.1601delA
  • NM_001408508.1:c.1592delA
  • NM_001408509.1:c.1589delA
  • NM_001408510.1:c.1550delA
  • NM_001408511.1:c.1547delA
  • NM_001408512.1:c.1427delA
  • NM_001408513.1:c.1400delA
  • NM_001408514.1:c.1004delA
  • NM_007294.4:c.5241delMANE SELECT
  • NM_007297.4:c.5100del
  • NM_007298.4:c.1928delA
  • NM_007299.4:c.1929del
  • NM_007300.4:c.5304del
  • NM_007304.2:c.1928delA
  • NP_001394500.1:p.Gly1677Valfs
  • NP_001394510.1:p.Gly1770Valfs
  • NP_001394511.1:p.Gly1770Valfs
  • NP_001394512.1:p.Gly1769Valfs
  • NP_001394514.1:p.Gly1769Valfs
  • NP_001394516.1:p.Gly1769Valfs
  • NP_001394519.1:p.Gly1768Valfs
  • NP_001394520.1:p.Gly1768Valfs
  • NP_001394522.1:p.Gly1748Valfs
  • NP_001394523.1:p.Gly1748Valfs
  • NP_001394525.1:p.Gly1748Valfs
  • NP_001394526.1:p.Gly1748Valfs
  • NP_001394527.1:p.Gly1748Valfs
  • NP_001394531.1:p.Gly1748Valfs
  • NP_001394532.1:p.Gly1748Valfs
  • NP_001394534.1:p.Gly1748Valfs
  • NP_001394539.1:p.Gly1747Valfs
  • NP_001394540.1:p.Gly1747Valfs
  • NP_001394541.1:p.Gly1747Valfs
  • NP_001394542.1:p.Gly1747Valfs
  • NP_001394543.1:p.Gly1747Valfs
  • NP_001394544.1:p.Gly1747Valfs
  • NP_001394545.1:p.Gly1747Valfs
  • NP_001394546.1:p.Gly1747Valfs
  • NP_001394547.1:p.Gly1747Valfs
  • NP_001394548.1:p.Gly1747Valfs
  • NP_001394549.1:p.Gly1747Valfs
  • NP_001394550.1:p.Gly1747Valfs
  • NP_001394551.1:p.Gly1747Valfs
  • NP_001394552.1:p.Gly1747Valfs
  • NP_001394553.1:p.Gly1747Valfs
  • NP_001394554.1:p.Gly1747Valfs
  • NP_001394555.1:p.Gly1747Valfs
  • NP_001394556.1:p.Gly1746Valfs
  • NP_001394557.1:p.Gly1746Valfs
  • NP_001394558.1:p.Gly1746Valfs
  • NP_001394559.1:p.Gly1746Valfs
  • NP_001394560.1:p.Gly1746Valfs
  • NP_001394561.1:p.Gly1746Valfs
  • NP_001394562.1:p.Gly1746Valfs
  • NP_001394563.1:p.Gly1746Valfs
  • NP_001394564.1:p.Gly1746Valfs
  • NP_001394565.1:p.Gly1746Valfs
  • NP_001394566.1:p.Gly1746Valfs
  • NP_001394567.1:p.Gly1746Valfs
  • NP_001394568.1:p.Gly1746Valfs
  • NP_001394569.1:p.Gly1746Valfs
  • NP_001394570.1:p.Gly1746Valfs
  • NP_001394571.1:p.Gly1746Valfs
  • NP_001394573.1:p.Gly1745Valfs
  • NP_001394574.1:p.Gly1745Valfs
  • NP_001394575.1:p.Gly1744Valfs
  • NP_001394576.1:p.Gly1743Valfs
  • NP_001394577.1:p.Gly1729Valfs
  • NP_001394578.1:p.Gly1728Valfs
  • NP_001394581.1:p.Gly1722Valfs
  • NP_001394582.1:p.Gly1722Valfs
  • NP_001394583.1:p.Gly1722Valfs
  • NP_001394584.1:p.Gly1722Valfs
  • NP_001394585.1:p.Gly1721Valfs
  • NP_001394586.1:p.Gly1721Valfs
  • NP_001394587.1:p.Gly1721Valfs
  • NP_001394588.1:p.Gly1720Valfs
  • NP_001394589.1:p.Gly1720Valfs
  • NP_001394590.1:p.Gly1720Valfs
  • NP_001394591.1:p.Gly1720Valfs
  • NP_001394592.1:p.Gly1720Valfs
  • NP_001394593.1:p.Gly1707Valfs
  • NP_001394594.1:p.Gly1707Valfs
  • NP_001394595.1:p.Gly1707Valfs
  • NP_001394596.1:p.Gly1707Valfs
  • NP_001394597.1:p.Gly1707Valfs
  • NP_001394598.1:p.Gly1707Valfs
  • NP_001394599.1:p.Gly1706Valfs
  • NP_001394600.1:p.Gly1706Valfs
  • NP_001394601.1:p.Gly1706Valfs
  • NP_001394602.1:p.Gly1706Valfs
  • NP_001394603.1:p.Gly1706Valfs
  • NP_001394604.1:p.Gly1706Valfs
  • NP_001394605.1:p.Gly1706Valfs
  • NP_001394606.1:p.Gly1706Valfs
  • NP_001394607.1:p.Gly1706Valfs
  • NP_001394608.1:p.Gly1706Valfs
  • NP_001394609.1:p.Gly1706Valfs
  • NP_001394610.1:p.Gly1705Valfs
  • NP_001394611.1:p.Gly1705Valfs
  • NP_001394612.1:p.Gly1705Valfs
  • NP_001394613.1:p.Gly1748Valfs
  • NP_001394614.1:p.Gly1705Valfs
  • NP_001394615.1:p.Gly1705Valfs
  • NP_001394616.1:p.Gly1705Valfs
  • NP_001394617.1:p.Gly1705Valfs
  • NP_001394618.1:p.Gly1705Valfs
  • NP_001394619.1:p.Gly1704Valfs
  • NP_001394620.1:p.Gly1704Valfs
  • NP_001394621.1:p.Gly1701Valfs
  • NP_001394623.1:p.Gly1701Valfs
  • NP_001394624.1:p.Gly1701Valfs
  • NP_001394625.1:p.Gly1701Valfs
  • NP_001394626.1:p.Gly1701Valfs
  • NP_001394627.1:p.Gly1701Valfs
  • NP_001394653.1:p.Gly1701Valfs
  • NP_001394654.1:p.Gly1701Valfs
  • NP_001394655.1:p.Gly1701Valfs
  • NP_001394656.1:p.Gly1701Valfs
  • NP_001394657.1:p.Gly1701Valfs
  • NP_001394658.1:p.Gly1701Valfs
  • NP_001394659.1:p.Gly1701Valfs
  • NP_001394660.1:p.Gly1701Valfs
  • NP_001394661.1:p.Gly1700Valfs
  • NP_001394662.1:p.Gly1700Valfs
  • NP_001394663.1:p.Gly1700Valfs
  • NP_001394664.1:p.Gly1700Valfs
  • NP_001394665.1:p.Gly1700Valfs
  • NP_001394666.1:p.Gly1700Valfs
  • NP_001394667.1:p.Gly1700Valfs
  • NP_001394668.1:p.Gly1700Valfs
  • NP_001394669.1:p.Gly1700Valfs
  • NP_001394670.1:p.Gly1700Valfs
  • NP_001394671.1:p.Gly1700Valfs
  • NP_001394672.1:p.Gly1700Valfs
  • NP_001394673.1:p.Gly1700Valfs
  • NP_001394674.1:p.Gly1700Valfs
  • NP_001394675.1:p.Gly1700Valfs
  • NP_001394676.1:p.Gly1700Valfs
  • NP_001394677.1:p.Gly1700Valfs
  • NP_001394678.1:p.Gly1700Valfs
  • NP_001394679.1:p.Gly1700Valfs
  • NP_001394680.1:p.Gly1700Valfs
  • NP_001394681.1:p.Gly1700Valfs
  • NP_001394767.1:p.Gly1699Valfs
  • NP_001394768.1:p.Gly1699Valfs
  • NP_001394770.1:p.Gly1699Valfs
  • NP_001394771.1:p.Gly1699Valfs
  • NP_001394772.1:p.Gly1699Valfs
  • NP_001394773.1:p.Gly1699Valfs
  • NP_001394774.1:p.Gly1699Valfs
  • NP_001394775.1:p.Gly1699Valfs
  • NP_001394776.1:p.Gly1699Valfs
  • NP_001394777.1:p.Gly1699Valfs
  • NP_001394778.1:p.Gly1699Valfs
  • NP_001394779.1:p.Gly1699Valfs
  • NP_001394780.1:p.Gly1699Valfs
  • NP_001394781.1:p.Gly1699Valfs
  • NP_001394782.1:p.Gly1699Valfs
  • NP_001394783.1:p.Gly1748Valfs
  • NP_001394787.1:p.Gly1747Valfs
  • NP_001394788.1:p.Gly1747Valfs
  • NP_001394789.1:p.Gly1747Valfs
  • NP_001394790.1:p.Gly1746Valfs
  • NP_001394791.1:p.Gly1681Valfs
  • NP_001394792.1:p.Gly1680Valfs
  • NP_001394803.1:p.Gly1679Valfs
  • NP_001394804.1:p.Gly1679Valfs
  • NP_001394808.1:p.Gly1678Valfs
  • NP_001394810.1:p.Gly1678Valfs
  • NP_001394811.1:p.Gly1678Valfs
  • NP_001394813.1:p.Gly1678Valfs
  • NP_001394814.1:p.Gly1678Valfs
  • NP_001394815.1:p.Gly1678Valfs
  • NP_001394816.1:p.Gly1678Valfs
  • NP_001394818.1:p.Gly1678Valfs
  • NP_001394823.1:p.Gly1677Valfs
  • NP_001394824.1:p.Gly1677Valfs
  • NP_001394825.1:p.Gly1677Valfs
  • NP_001394826.1:p.Gly1677Valfs
  • NP_001394827.1:p.Gly1677Valfs
  • NP_001394828.1:p.Gly1677Valfs
  • NP_001394829.1:p.Gly1677Valfs
  • NP_001394831.1:p.Gly1677Valfs
  • NP_001394833.1:p.Gly1677Valfs
  • NP_001394835.1:p.Gly1677Valfs
  • NP_001394836.1:p.Gly1677Valfs
  • NP_001394837.1:p.Gly1677Valfs
  • NP_001394838.1:p.Gly1677Valfs
  • NP_001394839.1:p.Gly1677Valfs
  • NP_001394844.1:p.Gly1676Valfs
  • NP_001394845.1:p.Gly1676Valfs
  • NP_001394846.1:p.Gly1676Valfs
  • NP_001394847.1:p.Gly1676Valfs
  • NP_001394848.1:p.Gly1707Valfs
  • NP_001394849.1:p.Gly1660Valfs
  • NP_001394850.1:p.Gly1660Valfs
  • NP_001394851.1:p.Gly1660Valfs
  • NP_001394852.1:p.Gly1660Valfs
  • NP_001394853.1:p.Gly1660Valfs
  • NP_001394854.1:p.Gly1660Valfs
  • NP_001394855.1:p.Gly1660Valfs
  • NP_001394856.1:p.Gly1659Valfs
  • NP_001394857.1:p.Gly1659Valfs
  • NP_001394858.1:p.Gly1659Valfs
  • NP_001394859.1:p.Gly1659Valfs
  • NP_001394860.1:p.Gly1659Valfs
  • NP_001394861.1:p.Gly1659Valfs
  • NP_001394862.1:p.Gly1659Valfs
  • NP_001394863.1:p.Gly1658Valfs
  • NP_001394864.1:p.Gly1658Valfs
  • NP_001394865.1:p.Gly1658Valfs
  • NP_001394866.1:p.Gly1707Valfs
  • NP_001394867.1:p.Gly1707Valfs
  • NP_001394868.1:p.Gly1706Valfs
  • NP_001394869.1:p.Gly1706Valfs
  • NP_001394870.1:p.Gly1705Valfs
  • NP_001394871.1:p.Gly1701Valfs
  • NP_001394872.1:p.Gly1700Valfs
  • NP_001394873.1:p.Gly1700Valfs
  • NP_001394874.1:p.Gly1700Valfs
  • NP_001394875.1:p.Gly1637Valfs
  • NP_001394876.1:p.Gly1637Valfs
  • NP_001394877.1:p.Gly1637Valfs
  • NP_001394878.1:p.Gly1637Valfs
  • NP_001394879.1:p.Gly1636Valfs
  • NP_001394880.1:p.Gly1636Valfs
  • NP_001394881.1:p.Gly1636Valfs
  • NP_001394882.1:p.Gly1636Valfs
  • NP_001394883.1:p.Gly1636Valfs
  • NP_001394884.1:p.Gly1636Valfs
  • NP_001394885.1:p.Gly1635Valfs
  • NP_001394886.1:p.Gly1635Valfs
  • NP_001394887.1:p.Gly1635Valfs
  • NP_001394888.1:p.Gly1621Valfs
  • NP_001394889.1:p.Gly1620Valfs
  • NP_001394891.1:p.Gly1620Valfs
  • NP_001394892.1:p.Gly1619Valfs
  • NP_001394893.1:p.Gly1594Valfs
  • NP_001394894.1:p.Gly1579Valfs
  • NP_001394895.1:p.Gly1452Valfs
  • NP_001394896.1:p.Gly1451Valfs
  • NP_001394897.1:p.Gly880Valfs
  • NP_001394898.1:p.Gly879Valfs
  • NP_001394899.1:p.Gly667Valfs
  • NP_001394900.1:p.Gly667Valfs
  • NP_001394901.1:p.Gly666Valfs
  • NP_001394902.1:p.Gly645Valfs
  • NP_001394903.1:p.Gly645Valfs
  • NP_001394904.1:p.Gly645Valfs
  • NP_001394905.1:p.Gly645Valfs
  • NP_001394906.1:p.Gly645Valfs
  • NP_001394907.1:p.Gly645Valfs
  • NP_001394908.1:p.Gly644Valfs
  • NP_001394909.1:p.Gly644Valfs
  • NP_001394910.1:p.Gly644Valfs
  • NP_001394911.1:p.Gly644Valfs
  • NP_001394912.1:p.Gly644Valfs
  • NP_001394913.1:p.Gly644Valfs
  • NP_001394914.1:p.Gly644Valfs
  • NP_001394915.1:p.Gly644Valfs
  • NP_001394919.1:p.Gly644Valfs
  • NP_001394920.1:p.Gly644Valfs
  • NP_001394921.1:p.Gly644Valfs
  • NP_001394922.1:p.Gly644Valfs
  • NP_001395321.1:p.Gly643Valfs
  • NP_001395325.1:p.Gly643Valfs
  • NP_001395326.1:p.Gly643Valfs
  • NP_001395327.1:p.Gly643Valfs
  • NP_001395328.1:p.Gly643Valfs
  • NP_001395329.1:p.Gly643Valfs
  • NP_001395330.1:p.Gly643Valfs
  • NP_001395331.1:p.Gly643Valfs
  • NP_001395332.1:p.Gly643Valfs
  • NP_001395333.1:p.Gly643Valfs
  • NP_001395335.1:p.Gly642Valfs
  • NP_001395336.1:p.Gly642Valfs
  • NP_001395337.1:p.Gly642Valfs
  • NP_001395338.1:p.Gly641Valfs
  • NP_001395339.1:p.Gly620Valfs
  • NP_001395340.1:p.Gly619Valfs
  • NP_001395341.1:p.Gly618Valfs
  • NP_001395342.1:p.Gly618Valfs
  • NP_001395343.1:p.Gly618Valfs
  • NP_001395344.1:p.Gly618Valfs
  • NP_001395345.1:p.Gly618Valfs
  • NP_001395347.1:p.Gly606Valfs
  • NP_001395348.1:p.Gly606Valfs
  • NP_001395349.1:p.Gly606Valfs
  • NP_001395350.1:p.Gly605Valfs
  • NP_001395351.1:p.Gly605Valfs
  • NP_001395352.1:p.Gly605Valfs
  • NP_001395353.1:p.Gly605Valfs
  • NP_001395354.1:p.Gly604Valfs
  • NP_001395355.1:p.Gly604Valfs
  • NP_001395356.1:p.Gly604Valfs
  • NP_001395357.1:p.Gly604Valfs
  • NP_001395358.1:p.Gly604Valfs
  • NP_001395359.1:p.Gly604Valfs
  • NP_001395360.1:p.Gly604Valfs
  • NP_001395361.1:p.Gly603Valfs
  • NP_001395362.1:p.Gly603Valfs
  • NP_001395363.1:p.Gly603Valfs
  • NP_001395364.1:p.Gly603Valfs
  • NP_001395365.1:p.Gly603Valfs
  • NP_001395366.1:p.Gly603Valfs
  • NP_001395367.1:p.Gly603Valfs
  • NP_001395368.1:p.Gly603Valfs
  • NP_001395369.1:p.Gly603Valfs
  • NP_001395370.1:p.Gly603Valfs
  • NP_001395371.1:p.Gly603Valfs
  • NP_001395372.1:p.Gly603Valfs
  • NP_001395373.1:p.Gly603Valfs
  • NP_001395374.1:p.Gly602Valfs
  • NP_001395375.1:p.Gly602Valfs
  • NP_001395376.1:p.Gly602Valfs
  • NP_001395377.1:p.Gly602Valfs
  • NP_001395379.1:p.Gly602Valfs
  • NP_001395380.1:p.Gly600Valfs
  • NP_001395381.1:p.Gly598Valfs
  • NP_001395382.1:p.Gly598Valfs
  • NP_001395383.1:p.Gly598Valfs
  • NP_001395384.1:p.Gly598Valfs
  • NP_001395385.1:p.Gly598Valfs
  • NP_001395386.1:p.Gly598Valfs
  • NP_001395387.1:p.Gly597Valfs
  • NP_001395388.1:p.Gly597Valfs
  • NP_001395389.1:p.Gly597Valfs
  • NP_001395390.1:p.Gly597Valfs
  • NP_001395391.1:p.Gly597Valfs
  • NP_001395392.1:p.Gly597Valfs
  • NP_001395393.1:p.Gly597Valfs
  • NP_001395394.1:p.Gly597Valfs
  • NP_001395395.1:p.Gly597Valfs
  • NP_001395396.1:p.Gly597Valfs
  • NP_001395397.1:p.Gly596Valfs
  • NP_001395398.1:p.Gly596Valfs
  • NP_001395399.1:p.Gly596Valfs
  • NP_001395401.1:p.Gly644Valfs
  • NP_001395402.1:p.Gly643Valfs
  • NP_001395403.1:p.Gly578Valfs
  • NP_001395404.1:p.Gly577Valfs
  • NP_001395405.1:p.Gly577Valfs
  • NP_001395407.1:p.Gly575Valfs
  • NP_001395408.1:p.Gly575Valfs
  • NP_001395409.1:p.Gly575Valfs
  • NP_001395410.1:p.Gly574Valfs
  • NP_001395411.1:p.Gly574Valfs
  • NP_001395412.1:p.Gly574Valfs
  • NP_001395413.1:p.Gly574Valfs
  • NP_001395414.1:p.Gly574Valfs
  • NP_001395418.1:p.Gly574Valfs
  • NP_001395419.1:p.Gly574Valfs
  • NP_001395420.1:p.Gly574Valfs
  • NP_001395421.1:p.Gly573Valfs
  • NP_001395422.1:p.Gly573Valfs
  • NP_001395423.1:p.Gly565Valfs
  • NP_001395424.1:p.Gly563Valfs
  • NP_001395425.1:p.Gly557Valfs
  • NP_001395426.1:p.Gly557Valfs
  • NP_001395427.1:p.Gly557Valfs
  • NP_001395428.1:p.Gly557Valfs
  • NP_001395429.1:p.Gly557Valfs
  • NP_001395430.1:p.Gly557Valfs
  • NP_001395431.1:p.Gly556Valfs
  • NP_001395432.1:p.Gly556Valfs
  • NP_001395433.1:p.Gly556Valfs
  • NP_001395434.1:p.Gly555Valfs
  • NP_001395435.1:p.Gly536Valfs
  • NP_001395436.1:p.Gly535Valfs
  • NP_001395437.1:p.Gly532Valfs
  • NP_001395438.1:p.Gly531Valfs
  • NP_001395439.1:p.Gly518Valfs
  • NP_001395440.1:p.Gly517Valfs
  • NP_001395441.1:p.Gly477Valfs
  • NP_001395442.1:p.Gly468Valfs
  • NP_001395443.1:p.Gly336Valfs
  • NP_009225.1:p.Gly1748Valfs
  • NP_009225.1:p.Gly1748fs
  • NP_009228.2:p.Gly1701fs
  • NP_009229.2:p.Gly644Valfs
  • NP_009229.2:p.Gly644fs
  • NP_009230.2:p.Gly644fs
  • NP_009231.2:p.Gly1769fs
  • NP_009235.2:p.Gly644Valfs
  • LRG_292t1:c.5240del
  • LRG_292:g.160896del
  • LRG_292p1:p.Gly1748Valfs
  • NC_000017.10:g.41209105del
  • NC_000017.10:g.41209106del
  • NM_007294.3:c.5240delA
  • NM_007294.3:c.5241delA
  • NM_007294.4:c.5241delAMANE SELECT
  • NM_007298.3:c.1929del
  • NR_027676.2:n.5418del
  • U14680.1:n.5360delA
Protein change:
G1701fs
Links:
Breast Cancer Information Core (BIC) (BRCA1): 5360&base_change=del A; dbSNP: rs80357791
NCBI 1000 Genomes Browser:
rs80357791
Molecular consequence:
  • NM_001407571.1:c.5027delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407581.1:c.5306delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407582.1:c.5306delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407583.1:c.5303delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407585.1:c.5303delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407587.1:c.5303delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407590.1:c.5300delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407591.1:c.5300delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407593.1:c.5240delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407594.1:c.5240delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407596.1:c.5240delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407597.1:c.5240delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407598.1:c.5240delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407602.1:c.5240delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407603.1:c.5240delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407605.1:c.5240delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407610.1:c.5237delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407611.1:c.5237delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407612.1:c.5237delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407613.1:c.5237delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407614.1:c.5237delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407615.1:c.5237delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407616.1:c.5237delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407617.1:c.5237delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407618.1:c.5237delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407619.1:c.5237delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407620.1:c.5237delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407621.1:c.5237delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407622.1:c.5237delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407623.1:c.5237delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407624.1:c.5237delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407625.1:c.5237delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407626.1:c.5237delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407627.1:c.5234delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407628.1:c.5234delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407629.1:c.5234delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407630.1:c.5234delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407631.1:c.5234delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407632.1:c.5234delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407633.1:c.5234delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407634.1:c.5234delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407635.1:c.5234delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407636.1:c.5234delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407637.1:c.5234delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407638.1:c.5234delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407639.1:c.5234delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407640.1:c.5234delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407641.1:c.5234delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407642.1:c.5234delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407644.1:c.5231delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407645.1:c.5231delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407646.1:c.5228delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407647.1:c.5225delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407648.1:c.5183delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407649.1:c.5180delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407652.1:c.5162delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407653.1:c.5162delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407654.1:c.5162delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407655.1:c.5162delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407656.1:c.5159delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407657.1:c.5159delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407658.1:c.5159delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407659.1:c.5156delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407660.1:c.5156delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407661.1:c.5156delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407662.1:c.5156delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407663.1:c.5156delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407664.1:c.5117delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407665.1:c.5117delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407666.1:c.5117delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407667.1:c.5117delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407668.1:c.5117delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407669.1:c.5117delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407670.1:c.5114delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407671.1:c.5114delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407672.1:c.5114delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407673.1:c.5114delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407674.1:c.5114delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407675.1:c.5114delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407676.1:c.5114delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407677.1:c.5114delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407678.1:c.5114delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407679.1:c.5114delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407680.1:c.5114delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407681.1:c.5111delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407682.1:c.5111delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407683.1:c.5111delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407684.1:c.5240delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407685.1:c.5111delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407686.1:c.5111delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407687.1:c.5111delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407688.1:c.5111delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407689.1:c.5111delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407690.1:c.5108delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407691.1:c.5108delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407692.1:c.5099delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407694.1:c.5099delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407695.1:c.5099delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407696.1:c.5099delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407697.1:c.5099delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407698.1:c.5099delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407724.1:c.5099delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407725.1:c.5099delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407726.1:c.5099delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407727.1:c.5099delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407728.1:c.5099delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407729.1:c.5099delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407730.1:c.5099delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407731.1:c.5099delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407732.1:c.5096delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407733.1:c.5096delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407734.1:c.5096delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407735.1:c.5096delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407736.1:c.5096delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407737.1:c.5096delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407738.1:c.5096delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407739.1:c.5096delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407740.1:c.5096delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407741.1:c.5096delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407742.1:c.5096delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407743.1:c.5096delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407744.1:c.5096delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407745.1:c.5096delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407746.1:c.5096delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407747.1:c.5096delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407748.1:c.5096delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407749.1:c.5096delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407750.1:c.5096delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407751.1:c.5096delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407752.1:c.5096delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407838.1:c.5093delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407839.1:c.5093delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407841.1:c.5093delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407842.1:c.5093delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407843.1:c.5093delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407844.1:c.5093delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407845.1:c.5093delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407846.1:c.5093delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407847.1:c.5093delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407848.1:c.5093delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407849.1:c.5093delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407850.1:c.5093delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407851.1:c.5093delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407852.1:c.5093delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407853.1:c.5093delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407854.1:c.5240delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407858.1:c.5237delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407859.1:c.5237delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407860.1:c.5237delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407861.1:c.5234delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407862.1:c.5039delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407863.1:c.5036delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407874.1:c.5033delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407875.1:c.5033delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407879.1:c.5030delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407881.1:c.5030delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407882.1:c.5030delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407884.1:c.5030delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407885.1:c.5030delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407886.1:c.5030delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407887.1:c.5030delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407889.1:c.5030delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407894.1:c.5027delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407895.1:c.5027delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407896.1:c.5027delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407897.1:c.5027delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407898.1:c.5027delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407899.1:c.5027delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407900.1:c.5027delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407902.1:c.5027delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407904.1:c.5027delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407906.1:c.5027delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407907.1:c.5027delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407908.1:c.5027delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407909.1:c.5027delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407910.1:c.5027delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407915.1:c.5024delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407916.1:c.5024delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407917.1:c.5024delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407918.1:c.5024delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407919.1:c.5117delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407920.1:c.4976delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407921.1:c.4976delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407922.1:c.4976delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407923.1:c.4976delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407924.1:c.4976delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407925.1:c.4976delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407926.1:c.4976delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407927.1:c.4973delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407928.1:c.4973delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407929.1:c.4973delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407930.1:c.4973delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407931.1:c.4973delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407932.1:c.4973delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407933.1:c.4973delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407934.1:c.4970delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407935.1:c.4970delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407936.1:c.4970delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407937.1:c.5117delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407938.1:c.5117delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407939.1:c.5114delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407940.1:c.5114delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407941.1:c.5111delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407942.1:c.5099delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407943.1:c.5096delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407944.1:c.5096delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407945.1:c.5096delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407946.1:c.4907delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407947.1:c.4907delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407948.1:c.4907delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407949.1:c.4907delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407950.1:c.4904delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407951.1:c.4904delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407952.1:c.4904delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407953.1:c.4904delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407954.1:c.4904delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407955.1:c.4904delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407956.1:c.4901delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407957.1:c.4901delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407958.1:c.4901delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407959.1:c.4859delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407960.1:c.4856delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407962.1:c.4856delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407963.1:c.4853delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407964.1:c.4778delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407965.1:c.4733delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407966.1:c.4352delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407967.1:c.4349delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407968.1:c.2636delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407969.1:c.2633delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407970.1:c.1997delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407971.1:c.1997delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407972.1:c.1994delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407973.1:c.1931delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407974.1:c.1931delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407975.1:c.1931delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407976.1:c.1931delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407977.1:c.1931delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407978.1:c.1931delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407979.1:c.1928delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407980.1:c.1928delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407981.1:c.1928delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407982.1:c.1928delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407983.1:c.1928delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407984.1:c.1928delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407985.1:c.1928delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407986.1:c.1928delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407990.1:c.1928delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407991.1:c.1928delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407992.1:c.1928delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407993.1:c.1928delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408392.1:c.1925delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408396.1:c.1925delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408397.1:c.1925delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408398.1:c.1925delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408399.1:c.1925delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408400.1:c.1925delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408401.1:c.1925delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408402.1:c.1925delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408403.1:c.1925delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408404.1:c.1925delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408406.1:c.1922delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408407.1:c.1922delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408408.1:c.1922delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408409.1:c.1919delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408410.1:c.1856delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408411.1:c.1853delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408412.1:c.1850delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408413.1:c.1850delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408414.1:c.1850delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408415.1:c.1850delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408416.1:c.1850delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408418.1:c.1814delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408419.1:c.1814delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408420.1:c.1814delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408421.1:c.1811delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408422.1:c.1811delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408423.1:c.1811delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408424.1:c.1811delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408425.1:c.1808delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408426.1:c.1808delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408427.1:c.1808delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408428.1:c.1808delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408429.1:c.1808delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408430.1:c.1808delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408431.1:c.1808delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408432.1:c.1805delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408433.1:c.1805delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408434.1:c.1805delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408435.1:c.1805delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408436.1:c.1805delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408437.1:c.1805delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408438.1:c.1805delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408439.1:c.1805delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408440.1:c.1805delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408441.1:c.1805delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408442.1:c.1805delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408443.1:c.1805delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408444.1:c.1805delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408445.1:c.1802delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408446.1:c.1802delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408447.1:c.1802delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408448.1:c.1802delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408450.1:c.1802delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408451.1:c.1796delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408452.1:c.1790delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408453.1:c.1790delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408454.1:c.1790delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408455.1:c.1790delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408456.1:c.1790delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408457.1:c.1790delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408458.1:c.1787delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408459.1:c.1787delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408460.1:c.1787delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408461.1:c.1787delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408462.1:c.1787delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408463.1:c.1787delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408464.1:c.1787delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408465.1:c.1787delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408466.1:c.1787delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408467.1:c.1787delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408468.1:c.1784delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408469.1:c.1784delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408470.1:c.1784delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408472.1:c.1928delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408473.1:c.1925delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408474.1:c.1730delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408475.1:c.1727delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408476.1:c.1727delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408478.1:c.1721delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408479.1:c.1721delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408480.1:c.1721delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408481.1:c.1718delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408482.1:c.1718delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408483.1:c.1718delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408484.1:c.1718delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408485.1:c.1718delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408489.1:c.1718delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408490.1:c.1718delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408491.1:c.1718delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408492.1:c.1715delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408493.1:c.1715delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408494.1:c.1691delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408495.1:c.1685delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408496.1:c.1667delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408497.1:c.1667delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408498.1:c.1667delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408499.1:c.1667delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408500.1:c.1667delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408501.1:c.1667delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408502.1:c.1664delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408503.1:c.1664delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408504.1:c.1664delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408505.1:c.1661delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408506.1:c.1604delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408507.1:c.1601delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408508.1:c.1592delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408509.1:c.1589delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408510.1:c.1550delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408511.1:c.1547delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408512.1:c.1427delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408513.1:c.1400delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408514.1:c.1004delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007294.4:c.5241del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007297.4:c.5100del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007298.4:c.1928delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007299.4:c.1929del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007300.4:c.5304del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007304.2:c.1928delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_027676.2:n.5418del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Breast carcinoma
Synonyms:
Carcinoma of breast
Identifiers:
MONDO: MONDO:0004989; MedGen: C0678222; Human Phenotype Ontology: HP:0003002

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001774812Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences
no assertion criteria provided
Pathogenic
(Aug 8, 2021) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences, SCV001774812.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providedclinical testingnot provided

Description

ESTROGEN receptor - PROGESTERONE receptor - HER 2 receptor +

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

Last Updated: Oct 13, 2024