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NM_007294.4(BRCA1):c.5535C>G (p.Tyr1845Ter) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:
Pathogenic (3 submissions)
Last evaluated:
Oct 18, 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:
RCV000256729.8

Allele description [Variation Report for NM_007294.4(BRCA1):c.5535C>G (p.Tyr1845Ter)]

NM_007294.4(BRCA1):c.5535C>G (p.Tyr1845Ter)

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.5535C>G (p.Tyr1845Ter)
Other names:
5654C>G
HGVS:
  • NC_000017.11:g.43045735G>C
  • NG_005905.2:g.172249C>G
  • NM_001407571.1:c.5322C>G
  • NM_001407581.1:c.5601C>G
  • NM_001407582.1:c.5601C>G
  • NM_001407583.1:c.5598C>G
  • NM_001407585.1:c.5598C>G
  • NM_001407587.1:c.5598C>G
  • NM_001407590.1:c.5595C>G
  • NM_001407591.1:c.5595C>G
  • NM_001407593.1:c.5535C>G
  • NM_001407594.1:c.5535C>G
  • NM_001407596.1:c.5535C>G
  • NM_001407597.1:c.5535C>G
  • NM_001407598.1:c.5535C>G
  • NM_001407602.1:c.5535C>G
  • NM_001407603.1:c.5535C>G
  • NM_001407605.1:c.5535C>G
  • NM_001407610.1:c.5532C>G
  • NM_001407611.1:c.5532C>G
  • NM_001407612.1:c.5532C>G
  • NM_001407613.1:c.5532C>G
  • NM_001407614.1:c.5532C>G
  • NM_001407615.1:c.5532C>G
  • NM_001407616.1:c.5532C>G
  • NM_001407617.1:c.5532C>G
  • NM_001407618.1:c.5532C>G
  • NM_001407619.1:c.5532C>G
  • NM_001407620.1:c.5532C>G
  • NM_001407621.1:c.5532C>G
  • NM_001407622.1:c.5532C>G
  • NM_001407623.1:c.5532C>G
  • NM_001407624.1:c.5532C>G
  • NM_001407625.1:c.5532C>G
  • NM_001407626.1:c.5532C>G
  • NM_001407627.1:c.5529C>G
  • NM_001407628.1:c.5529C>G
  • NM_001407629.1:c.5529C>G
  • NM_001407630.1:c.5529C>G
  • NM_001407631.1:c.5529C>G
  • NM_001407632.1:c.5529C>G
  • NM_001407633.1:c.5529C>G
  • NM_001407634.1:c.5529C>G
  • NM_001407635.1:c.5529C>G
  • NM_001407636.1:c.5529C>G
  • NM_001407637.1:c.5529C>G
  • NM_001407638.1:c.5529C>G
  • NM_001407639.1:c.5529C>G
  • NM_001407640.1:c.5529C>G
  • NM_001407641.1:c.5529C>G
  • NM_001407642.1:c.5529C>G
  • NM_001407644.1:c.5526C>G
  • NM_001407645.1:c.5526C>G
  • NM_001407646.1:c.5523C>G
  • NM_001407647.1:c.5520C>G
  • NM_001407648.1:c.5478C>G
  • NM_001407649.1:c.5475C>G
  • NM_001407652.1:c.5457C>G
  • NM_001407653.1:c.5457C>G
  • NM_001407654.1:c.5457C>G
  • NM_001407655.1:c.5457C>G
  • NM_001407656.1:c.5454C>G
  • NM_001407657.1:c.5454C>G
  • NM_001407658.1:c.5454C>G
  • NM_001407659.1:c.5451C>G
  • NM_001407660.1:c.5451C>G
  • NM_001407661.1:c.5451C>G
  • NM_001407662.1:c.5451C>G
  • NM_001407663.1:c.5451C>G
  • NM_001407664.1:c.5412C>G
  • NM_001407665.1:c.5412C>G
  • NM_001407666.1:c.5412C>G
  • NM_001407667.1:c.5412C>G
  • NM_001407668.1:c.5412C>G
  • NM_001407669.1:c.5412C>G
  • NM_001407670.1:c.5409C>G
  • NM_001407671.1:c.5409C>G
  • NM_001407672.1:c.5409C>G
  • NM_001407673.1:c.5409C>G
  • NM_001407674.1:c.5409C>G
  • NM_001407675.1:c.5409C>G
  • NM_001407676.1:c.5409C>G
  • NM_001407677.1:c.5409C>G
  • NM_001407678.1:c.5409C>G
  • NM_001407679.1:c.5409C>G
  • NM_001407680.1:c.5409C>G
  • NM_001407681.1:c.5406C>G
  • NM_001407682.1:c.5406C>G
  • NM_001407683.1:c.5406C>G
  • NM_001407684.1:c.5406C>G
  • NM_001407685.1:c.5406C>G
  • NM_001407686.1:c.5406C>G
  • NM_001407687.1:c.5406C>G
  • NM_001407688.1:c.5406C>G
  • NM_001407689.1:c.5406C>G
  • NM_001407690.1:c.5403C>G
  • NM_001407691.1:c.5403C>G
  • NM_001407692.1:c.5394C>G
  • NM_001407694.1:c.5394C>G
  • NM_001407695.1:c.5394C>G
  • NM_001407696.1:c.5394C>G
  • NM_001407697.1:c.5394C>G
  • NM_001407698.1:c.5394C>G
  • NM_001407724.1:c.5394C>G
  • NM_001407725.1:c.5394C>G
  • NM_001407726.1:c.5394C>G
  • NM_001407727.1:c.5394C>G
  • NM_001407728.1:c.5394C>G
  • NM_001407729.1:c.5394C>G
  • NM_001407730.1:c.5394C>G
  • NM_001407731.1:c.5394C>G
  • NM_001407732.1:c.5391C>G
  • NM_001407733.1:c.5391C>G
  • NM_001407734.1:c.5391C>G
  • NM_001407735.1:c.5391C>G
  • NM_001407736.1:c.5391C>G
  • NM_001407737.1:c.5391C>G
  • NM_001407738.1:c.5391C>G
  • NM_001407739.1:c.5391C>G
  • NM_001407740.1:c.5391C>G
  • NM_001407741.1:c.5391C>G
  • NM_001407742.1:c.5391C>G
  • NM_001407743.1:c.5391C>G
  • NM_001407744.1:c.5391C>G
  • NM_001407745.1:c.5391C>G
  • NM_001407746.1:c.5391C>G
  • NM_001407747.1:c.5391C>G
  • NM_001407748.1:c.5391C>G
  • NM_001407749.1:c.5391C>G
  • NM_001407750.1:c.5391C>G
  • NM_001407751.1:c.5391C>G
  • NM_001407752.1:c.5391C>G
  • NM_001407838.1:c.5388C>G
  • NM_001407839.1:c.5388C>G
  • NM_001407841.1:c.5388C>G
  • NM_001407842.1:c.5388C>G
  • NM_001407843.1:c.5388C>G
  • NM_001407844.1:c.5388C>G
  • NM_001407845.1:c.5388C>G
  • NM_001407846.1:c.5388C>G
  • NM_001407847.1:c.5388C>G
  • NM_001407848.1:c.5388C>G
  • NM_001407849.1:c.5388C>G
  • NM_001407850.1:c.5388C>G
  • NM_001407851.1:c.5388C>G
  • NM_001407852.1:c.5388C>G
  • NM_001407853.1:c.5388C>G
  • NM_001407854.1:c.*49C>G
  • NM_001407858.1:c.*49C>G
  • NM_001407859.1:c.*49C>G
  • NM_001407860.1:c.*49C>G
  • NM_001407861.1:c.*49C>G
  • NM_001407862.1:c.5334C>G
  • NM_001407863.1:c.5331C>G
  • NM_001407874.1:c.5328C>G
  • NM_001407875.1:c.5328C>G
  • NM_001407879.1:c.5325C>G
  • NM_001407881.1:c.5325C>G
  • NM_001407882.1:c.5325C>G
  • NM_001407884.1:c.5325C>G
  • NM_001407885.1:c.5325C>G
  • NM_001407886.1:c.5325C>G
  • NM_001407887.1:c.5325C>G
  • NM_001407889.1:c.5325C>G
  • NM_001407894.1:c.5322C>G
  • NM_001407895.1:c.5322C>G
  • NM_001407896.1:c.5322C>G
  • NM_001407897.1:c.5322C>G
  • NM_001407898.1:c.5322C>G
  • NM_001407899.1:c.5322C>G
  • NM_001407900.1:c.5322C>G
  • NM_001407902.1:c.5322C>G
  • NM_001407904.1:c.5322C>G
  • NM_001407906.1:c.5322C>G
  • NM_001407907.1:c.5322C>G
  • NM_001407908.1:c.5322C>G
  • NM_001407909.1:c.5322C>G
  • NM_001407910.1:c.5322C>G
  • NM_001407915.1:c.5319C>G
  • NM_001407916.1:c.5319C>G
  • NM_001407917.1:c.5319C>G
  • NM_001407918.1:c.5319C>G
  • NM_001407919.1:c.5283C>G
  • NM_001407920.1:c.5271C>G
  • NM_001407921.1:c.5271C>G
  • NM_001407922.1:c.5271C>G
  • NM_001407923.1:c.5271C>G
  • NM_001407924.1:c.5271C>G
  • NM_001407925.1:c.5271C>G
  • NM_001407926.1:c.5271C>G
  • NM_001407927.1:c.5268C>G
  • NM_001407928.1:c.5268C>G
  • NM_001407929.1:c.5268C>G
  • NM_001407930.1:c.5268C>G
  • NM_001407931.1:c.5268C>G
  • NM_001407932.1:c.5268C>G
  • NM_001407933.1:c.5268C>G
  • NM_001407934.1:c.5265C>G
  • NM_001407935.1:c.5265C>G
  • NM_001407936.1:c.5265C>G
  • NM_001407937.1:c.*49C>G
  • NM_001407938.1:c.*49C>G
  • NM_001407939.1:c.*49C>G
  • NM_001407940.1:c.*49C>G
  • NM_001407941.1:c.*49C>G
  • NM_001407942.1:c.*49C>G
  • NM_001407943.1:c.*49C>G
  • NM_001407944.1:c.*49C>G
  • NM_001407945.1:c.*49C>G
  • NM_001407946.1:c.5202C>G
  • NM_001407947.1:c.5202C>G
  • NM_001407948.1:c.5202C>G
  • NM_001407949.1:c.5202C>G
  • NM_001407950.1:c.5199C>G
  • NM_001407951.1:c.5199C>G
  • NM_001407952.1:c.5199C>G
  • NM_001407953.1:c.5199C>G
  • NM_001407954.1:c.5199C>G
  • NM_001407955.1:c.5199C>G
  • NM_001407956.1:c.5196C>G
  • NM_001407957.1:c.5196C>G
  • NM_001407958.1:c.5196C>G
  • NM_001407959.1:c.5154C>G
  • NM_001407960.1:c.5151C>G
  • NM_001407962.1:c.5151C>G
  • NM_001407963.1:c.5148C>G
  • NM_001407964.1:c.5073C>G
  • NM_001407965.1:c.5028C>G
  • NM_001407966.1:c.4647C>G
  • NM_001407967.1:c.4644C>G
  • NM_001407968.1:c.2931C>G
  • NM_001407969.1:c.2928C>G
  • NM_001407970.1:c.2292C>G
  • NM_001407971.1:c.2292C>G
  • NM_001407972.1:c.2289C>G
  • NM_001407973.1:c.2226C>G
  • NM_001407974.1:c.2226C>G
  • NM_001407975.1:c.2226C>G
  • NM_001407976.1:c.2226C>G
  • NM_001407977.1:c.2226C>G
  • NM_001407978.1:c.2226C>G
  • NM_001407979.1:c.2223C>G
  • NM_001407980.1:c.2223C>G
  • NM_001407981.1:c.2223C>G
  • NM_001407982.1:c.2223C>G
  • NM_001407983.1:c.2223C>G
  • NM_001407984.1:c.2223C>G
  • NM_001407985.1:c.2223C>G
  • NM_001407986.1:c.2223C>G
  • NM_001407990.1:c.2223C>G
  • NM_001407991.1:c.2223C>G
  • NM_001407992.1:c.2223C>G
  • NM_001407993.1:c.2223C>G
  • NM_001408392.1:c.2220C>G
  • NM_001408396.1:c.2220C>G
  • NM_001408397.1:c.2220C>G
  • NM_001408398.1:c.2220C>G
  • NM_001408399.1:c.2220C>G
  • NM_001408400.1:c.2220C>G
  • NM_001408401.1:c.2220C>G
  • NM_001408402.1:c.2220C>G
  • NM_001408403.1:c.2220C>G
  • NM_001408404.1:c.2220C>G
  • NM_001408406.1:c.2217C>G
  • NM_001408407.1:c.2217C>G
  • NM_001408408.1:c.2217C>G
  • NM_001408409.1:c.2214C>G
  • NM_001408410.1:c.2151C>G
  • NM_001408411.1:c.2148C>G
  • NM_001408412.1:c.2145C>G
  • NM_001408413.1:c.2145C>G
  • NM_001408414.1:c.2145C>G
  • NM_001408415.1:c.2145C>G
  • NM_001408416.1:c.2145C>G
  • NM_001408418.1:c.2109C>G
  • NM_001408419.1:c.2109C>G
  • NM_001408420.1:c.2109C>G
  • NM_001408421.1:c.2106C>G
  • NM_001408422.1:c.2106C>G
  • NM_001408423.1:c.2106C>G
  • NM_001408424.1:c.2106C>G
  • NM_001408425.1:c.2103C>G
  • NM_001408426.1:c.2103C>G
  • NM_001408427.1:c.2103C>G
  • NM_001408428.1:c.2103C>G
  • NM_001408429.1:c.2103C>G
  • NM_001408430.1:c.2103C>G
  • NM_001408431.1:c.2103C>G
  • NM_001408432.1:c.2100C>G
  • NM_001408433.1:c.2100C>G
  • NM_001408434.1:c.2100C>G
  • NM_001408435.1:c.2100C>G
  • NM_001408436.1:c.2100C>G
  • NM_001408437.1:c.2100C>G
  • NM_001408438.1:c.2100C>G
  • NM_001408439.1:c.2100C>G
  • NM_001408440.1:c.2100C>G
  • NM_001408441.1:c.2100C>G
  • NM_001408442.1:c.2100C>G
  • NM_001408443.1:c.2100C>G
  • NM_001408444.1:c.2100C>G
  • NM_001408445.1:c.2097C>G
  • NM_001408446.1:c.2097C>G
  • NM_001408447.1:c.2097C>G
  • NM_001408448.1:c.2097C>G
  • NM_001408450.1:c.2097C>G
  • NM_001408451.1:c.2091C>G
  • NM_001408452.1:c.2085C>G
  • NM_001408453.1:c.2085C>G
  • NM_001408454.1:c.2085C>G
  • NM_001408455.1:c.2085C>G
  • NM_001408456.1:c.2085C>G
  • NM_001408457.1:c.2085C>G
  • NM_001408458.1:c.2082C>G
  • NM_001408459.1:c.2082C>G
  • NM_001408460.1:c.2082C>G
  • NM_001408461.1:c.2082C>G
  • NM_001408462.1:c.2082C>G
  • NM_001408463.1:c.2082C>G
  • NM_001408464.1:c.2082C>G
  • NM_001408465.1:c.2082C>G
  • NM_001408466.1:c.2082C>G
  • NM_001408467.1:c.2082C>G
  • NM_001408468.1:c.2079C>G
  • NM_001408469.1:c.2079C>G
  • NM_001408470.1:c.2079C>G
  • NM_001408472.1:c.*49C>G
  • NM_001408473.1:c.*49C>G
  • NM_001408474.1:c.2025C>G
  • NM_001408475.1:c.2022C>G
  • NM_001408476.1:c.2022C>G
  • NM_001408478.1:c.2016C>G
  • NM_001408479.1:c.2016C>G
  • NM_001408480.1:c.2016C>G
  • NM_001408481.1:c.2013C>G
  • NM_001408482.1:c.2013C>G
  • NM_001408483.1:c.2013C>G
  • NM_001408484.1:c.2013C>G
  • NM_001408485.1:c.2013C>G
  • NM_001408489.1:c.2013C>G
  • NM_001408490.1:c.2013C>G
  • NM_001408491.1:c.2013C>G
  • NM_001408492.1:c.2010C>G
  • NM_001408493.1:c.2010C>G
  • NM_001408494.1:c.1986C>G
  • NM_001408495.1:c.1980C>G
  • NM_001408496.1:c.1962C>G
  • NM_001408497.1:c.1962C>G
  • NM_001408498.1:c.1962C>G
  • NM_001408499.1:c.1962C>G
  • NM_001408500.1:c.1962C>G
  • NM_001408501.1:c.1962C>G
  • NM_001408502.1:c.1959C>G
  • NM_001408503.1:c.1959C>G
  • NM_001408504.1:c.1959C>G
  • NM_001408505.1:c.1956C>G
  • NM_001408506.1:c.1899C>G
  • NM_001408507.1:c.1896C>G
  • NM_001408508.1:c.1887C>G
  • NM_001408509.1:c.1884C>G
  • NM_001408510.1:c.1845C>G
  • NM_001408511.1:c.1842C>G
  • NM_001408512.1:c.1722C>G
  • NM_001408513.1:c.1695C>G
  • NM_001408514.1:c.1299C>G
  • NM_007294.4:c.5535C>GMANE SELECT
  • NM_007297.4:c.5394C>G
  • NM_007298.4:c.2223C>G
  • NM_007299.4:c.*49C>G
  • NM_007300.4:c.5598C>G
  • NM_007304.2:c.2223C>G
  • NP_001394500.1:p.Tyr1774Ter
  • NP_001394510.1:p.Tyr1867Ter
  • NP_001394511.1:p.Tyr1867Ter
  • NP_001394512.1:p.Tyr1866Ter
  • NP_001394514.1:p.Tyr1866Ter
  • NP_001394516.1:p.Tyr1866Ter
  • NP_001394519.1:p.Tyr1865Ter
  • NP_001394520.1:p.Tyr1865Ter
  • NP_001394522.1:p.Tyr1845Ter
  • NP_001394523.1:p.Tyr1845Ter
  • NP_001394525.1:p.Tyr1845Ter
  • NP_001394526.1:p.Tyr1845Ter
  • NP_001394527.1:p.Tyr1845Ter
  • NP_001394531.1:p.Tyr1845Ter
  • NP_001394532.1:p.Tyr1845Ter
  • NP_001394534.1:p.Tyr1845Ter
  • NP_001394539.1:p.Tyr1844Ter
  • NP_001394540.1:p.Tyr1844Ter
  • NP_001394541.1:p.Tyr1844Ter
  • NP_001394542.1:p.Tyr1844Ter
  • NP_001394543.1:p.Tyr1844Ter
  • NP_001394544.1:p.Tyr1844Ter
  • NP_001394545.1:p.Tyr1844Ter
  • NP_001394546.1:p.Tyr1844Ter
  • NP_001394547.1:p.Tyr1844Ter
  • NP_001394548.1:p.Tyr1844Ter
  • NP_001394549.1:p.Tyr1844Ter
  • NP_001394550.1:p.Tyr1844Ter
  • NP_001394551.1:p.Tyr1844Ter
  • NP_001394552.1:p.Tyr1844Ter
  • NP_001394553.1:p.Tyr1844Ter
  • NP_001394554.1:p.Tyr1844Ter
  • NP_001394555.1:p.Tyr1844Ter
  • NP_001394556.1:p.Tyr1843Ter
  • NP_001394557.1:p.Tyr1843Ter
  • NP_001394558.1:p.Tyr1843Ter
  • NP_001394559.1:p.Tyr1843Ter
  • NP_001394560.1:p.Tyr1843Ter
  • NP_001394561.1:p.Tyr1843Ter
  • NP_001394562.1:p.Tyr1843Ter
  • NP_001394563.1:p.Tyr1843Ter
  • NP_001394564.1:p.Tyr1843Ter
  • NP_001394565.1:p.Tyr1843Ter
  • NP_001394566.1:p.Tyr1843Ter
  • NP_001394567.1:p.Tyr1843Ter
  • NP_001394568.1:p.Tyr1843Ter
  • NP_001394569.1:p.Tyr1843Ter
  • NP_001394570.1:p.Tyr1843Ter
  • NP_001394571.1:p.Tyr1843Ter
  • NP_001394573.1:p.Tyr1842Ter
  • NP_001394574.1:p.Tyr1842Ter
  • NP_001394575.1:p.Tyr1841Ter
  • NP_001394576.1:p.Tyr1840Ter
  • NP_001394577.1:p.Tyr1826Ter
  • NP_001394578.1:p.Tyr1825Ter
  • NP_001394581.1:p.Tyr1819Ter
  • NP_001394582.1:p.Tyr1819Ter
  • NP_001394583.1:p.Tyr1819Ter
  • NP_001394584.1:p.Tyr1819Ter
  • NP_001394585.1:p.Tyr1818Ter
  • NP_001394586.1:p.Tyr1818Ter
  • NP_001394587.1:p.Tyr1818Ter
  • NP_001394588.1:p.Tyr1817Ter
  • NP_001394589.1:p.Tyr1817Ter
  • NP_001394590.1:p.Tyr1817Ter
  • NP_001394591.1:p.Tyr1817Ter
  • NP_001394592.1:p.Tyr1817Ter
  • NP_001394593.1:p.Tyr1804Ter
  • NP_001394594.1:p.Tyr1804Ter
  • NP_001394595.1:p.Tyr1804Ter
  • NP_001394596.1:p.Tyr1804Ter
  • NP_001394597.1:p.Tyr1804Ter
  • NP_001394598.1:p.Tyr1804Ter
  • NP_001394599.1:p.Tyr1803Ter
  • NP_001394600.1:p.Tyr1803Ter
  • NP_001394601.1:p.Tyr1803Ter
  • NP_001394602.1:p.Tyr1803Ter
  • NP_001394603.1:p.Tyr1803Ter
  • NP_001394604.1:p.Tyr1803Ter
  • NP_001394605.1:p.Tyr1803Ter
  • NP_001394606.1:p.Tyr1803Ter
  • NP_001394607.1:p.Tyr1803Ter
  • NP_001394608.1:p.Tyr1803Ter
  • NP_001394609.1:p.Tyr1803Ter
  • NP_001394610.1:p.Tyr1802Ter
  • NP_001394611.1:p.Tyr1802Ter
  • NP_001394612.1:p.Tyr1802Ter
  • NP_001394613.1:p.Tyr1802Ter
  • NP_001394614.1:p.Tyr1802Ter
  • NP_001394615.1:p.Tyr1802Ter
  • NP_001394616.1:p.Tyr1802Ter
  • NP_001394617.1:p.Tyr1802Ter
  • NP_001394618.1:p.Tyr1802Ter
  • NP_001394619.1:p.Tyr1801Ter
  • NP_001394620.1:p.Tyr1801Ter
  • NP_001394621.1:p.Tyr1798Ter
  • NP_001394623.1:p.Tyr1798Ter
  • NP_001394624.1:p.Tyr1798Ter
  • NP_001394625.1:p.Tyr1798Ter
  • NP_001394626.1:p.Tyr1798Ter
  • NP_001394627.1:p.Tyr1798Ter
  • NP_001394653.1:p.Tyr1798Ter
  • NP_001394654.1:p.Tyr1798Ter
  • NP_001394655.1:p.Tyr1798Ter
  • NP_001394656.1:p.Tyr1798Ter
  • NP_001394657.1:p.Tyr1798Ter
  • NP_001394658.1:p.Tyr1798Ter
  • NP_001394659.1:p.Tyr1798Ter
  • NP_001394660.1:p.Tyr1798Ter
  • NP_001394661.1:p.Tyr1797Ter
  • NP_001394662.1:p.Tyr1797Ter
  • NP_001394663.1:p.Tyr1797Ter
  • NP_001394664.1:p.Tyr1797Ter
  • NP_001394665.1:p.Tyr1797Ter
  • NP_001394666.1:p.Tyr1797Ter
  • NP_001394667.1:p.Tyr1797Ter
  • NP_001394668.1:p.Tyr1797Ter
  • NP_001394669.1:p.Tyr1797Ter
  • NP_001394670.1:p.Tyr1797Ter
  • NP_001394671.1:p.Tyr1797Ter
  • NP_001394672.1:p.Tyr1797Ter
  • NP_001394673.1:p.Tyr1797Ter
  • NP_001394674.1:p.Tyr1797Ter
  • NP_001394675.1:p.Tyr1797Ter
  • NP_001394676.1:p.Tyr1797Ter
  • NP_001394677.1:p.Tyr1797Ter
  • NP_001394678.1:p.Tyr1797Ter
  • NP_001394679.1:p.Tyr1797Ter
  • NP_001394680.1:p.Tyr1797Ter
  • NP_001394681.1:p.Tyr1797Ter
  • NP_001394767.1:p.Tyr1796Ter
  • NP_001394768.1:p.Tyr1796Ter
  • NP_001394770.1:p.Tyr1796Ter
  • NP_001394771.1:p.Tyr1796Ter
  • NP_001394772.1:p.Tyr1796Ter
  • NP_001394773.1:p.Tyr1796Ter
  • NP_001394774.1:p.Tyr1796Ter
  • NP_001394775.1:p.Tyr1796Ter
  • NP_001394776.1:p.Tyr1796Ter
  • NP_001394777.1:p.Tyr1796Ter
  • NP_001394778.1:p.Tyr1796Ter
  • NP_001394779.1:p.Tyr1796Ter
  • NP_001394780.1:p.Tyr1796Ter
  • NP_001394781.1:p.Tyr1796Ter
  • NP_001394782.1:p.Tyr1796Ter
  • NP_001394791.1:p.Tyr1778Ter
  • NP_001394792.1:p.Tyr1777Ter
  • NP_001394803.1:p.Tyr1776Ter
  • NP_001394804.1:p.Tyr1776Ter
  • NP_001394808.1:p.Tyr1775Ter
  • NP_001394810.1:p.Tyr1775Ter
  • NP_001394811.1:p.Tyr1775Ter
  • NP_001394813.1:p.Tyr1775Ter
  • NP_001394814.1:p.Tyr1775Ter
  • NP_001394815.1:p.Tyr1775Ter
  • NP_001394816.1:p.Tyr1775Ter
  • NP_001394818.1:p.Tyr1775Ter
  • NP_001394823.1:p.Tyr1774Ter
  • NP_001394824.1:p.Tyr1774Ter
  • NP_001394825.1:p.Tyr1774Ter
  • NP_001394826.1:p.Tyr1774Ter
  • NP_001394827.1:p.Tyr1774Ter
  • NP_001394828.1:p.Tyr1774Ter
  • NP_001394829.1:p.Tyr1774Ter
  • NP_001394831.1:p.Tyr1774Ter
  • NP_001394833.1:p.Tyr1774Ter
  • NP_001394835.1:p.Tyr1774Ter
  • NP_001394836.1:p.Tyr1774Ter
  • NP_001394837.1:p.Tyr1774Ter
  • NP_001394838.1:p.Tyr1774Ter
  • NP_001394839.1:p.Tyr1774Ter
  • NP_001394844.1:p.Tyr1773Ter
  • NP_001394845.1:p.Tyr1773Ter
  • NP_001394846.1:p.Tyr1773Ter
  • NP_001394847.1:p.Tyr1773Ter
  • NP_001394848.1:p.Tyr1761Ter
  • NP_001394849.1:p.Tyr1757Ter
  • NP_001394850.1:p.Tyr1757Ter
  • NP_001394851.1:p.Tyr1757Ter
  • NP_001394852.1:p.Tyr1757Ter
  • NP_001394853.1:p.Tyr1757Ter
  • NP_001394854.1:p.Tyr1757Ter
  • NP_001394855.1:p.Tyr1757Ter
  • NP_001394856.1:p.Tyr1756Ter
  • NP_001394857.1:p.Tyr1756Ter
  • NP_001394858.1:p.Tyr1756Ter
  • NP_001394859.1:p.Tyr1756Ter
  • NP_001394860.1:p.Tyr1756Ter
  • NP_001394861.1:p.Tyr1756Ter
  • NP_001394862.1:p.Tyr1756Ter
  • NP_001394863.1:p.Tyr1755Ter
  • NP_001394864.1:p.Tyr1755Ter
  • NP_001394865.1:p.Tyr1755Ter
  • NP_001394875.1:p.Tyr1734Ter
  • NP_001394876.1:p.Tyr1734Ter
  • NP_001394877.1:p.Tyr1734Ter
  • NP_001394878.1:p.Tyr1734Ter
  • NP_001394879.1:p.Tyr1733Ter
  • NP_001394880.1:p.Tyr1733Ter
  • NP_001394881.1:p.Tyr1733Ter
  • NP_001394882.1:p.Tyr1733Ter
  • NP_001394883.1:p.Tyr1733Ter
  • NP_001394884.1:p.Tyr1733Ter
  • NP_001394885.1:p.Tyr1732Ter
  • NP_001394886.1:p.Tyr1732Ter
  • NP_001394887.1:p.Tyr1732Ter
  • NP_001394888.1:p.Tyr1718Ter
  • NP_001394889.1:p.Tyr1717Ter
  • NP_001394891.1:p.Tyr1717Ter
  • NP_001394892.1:p.Tyr1716Ter
  • NP_001394893.1:p.Tyr1691Ter
  • NP_001394894.1:p.Tyr1676Ter
  • NP_001394895.1:p.Tyr1549Ter
  • NP_001394896.1:p.Tyr1548Ter
  • NP_001394897.1:p.Tyr977Ter
  • NP_001394898.1:p.Tyr976Ter
  • NP_001394899.1:p.Tyr764Ter
  • NP_001394900.1:p.Tyr764Ter
  • NP_001394901.1:p.Tyr763Ter
  • NP_001394902.1:p.Tyr742Ter
  • NP_001394903.1:p.Tyr742Ter
  • NP_001394904.1:p.Tyr742Ter
  • NP_001394905.1:p.Tyr742Ter
  • NP_001394906.1:p.Tyr742Ter
  • NP_001394907.1:p.Tyr742Ter
  • NP_001394908.1:p.Tyr741Ter
  • NP_001394909.1:p.Tyr741Ter
  • NP_001394910.1:p.Tyr741Ter
  • NP_001394911.1:p.Tyr741Ter
  • NP_001394912.1:p.Tyr741Ter
  • NP_001394913.1:p.Tyr741Ter
  • NP_001394914.1:p.Tyr741Ter
  • NP_001394915.1:p.Tyr741Ter
  • NP_001394919.1:p.Tyr741Ter
  • NP_001394920.1:p.Tyr741Ter
  • NP_001394921.1:p.Tyr741Ter
  • NP_001394922.1:p.Tyr741Ter
  • NP_001395321.1:p.Tyr740Ter
  • NP_001395325.1:p.Tyr740Ter
  • NP_001395326.1:p.Tyr740Ter
  • NP_001395327.1:p.Tyr740Ter
  • NP_001395328.1:p.Tyr740Ter
  • NP_001395329.1:p.Tyr740Ter
  • NP_001395330.1:p.Tyr740Ter
  • NP_001395331.1:p.Tyr740Ter
  • NP_001395332.1:p.Tyr740Ter
  • NP_001395333.1:p.Tyr740Ter
  • NP_001395335.1:p.Tyr739Ter
  • NP_001395336.1:p.Tyr739Ter
  • NP_001395337.1:p.Tyr739Ter
  • NP_001395338.1:p.Tyr738Ter
  • NP_001395339.1:p.Tyr717Ter
  • NP_001395340.1:p.Tyr716Ter
  • NP_001395341.1:p.Tyr715Ter
  • NP_001395342.1:p.Tyr715Ter
  • NP_001395343.1:p.Tyr715Ter
  • NP_001395344.1:p.Tyr715Ter
  • NP_001395345.1:p.Tyr715Ter
  • NP_001395347.1:p.Tyr703Ter
  • NP_001395348.1:p.Tyr703Ter
  • NP_001395349.1:p.Tyr703Ter
  • NP_001395350.1:p.Tyr702Ter
  • NP_001395351.1:p.Tyr702Ter
  • NP_001395352.1:p.Tyr702Ter
  • NP_001395353.1:p.Tyr702Ter
  • NP_001395354.1:p.Tyr701Ter
  • NP_001395355.1:p.Tyr701Ter
  • NP_001395356.1:p.Tyr701Ter
  • NP_001395357.1:p.Tyr701Ter
  • NP_001395358.1:p.Tyr701Ter
  • NP_001395359.1:p.Tyr701Ter
  • NP_001395360.1:p.Tyr701Ter
  • NP_001395361.1:p.Tyr700Ter
  • NP_001395362.1:p.Tyr700Ter
  • NP_001395363.1:p.Tyr700Ter
  • NP_001395364.1:p.Tyr700Ter
  • NP_001395365.1:p.Tyr700Ter
  • NP_001395366.1:p.Tyr700Ter
  • NP_001395367.1:p.Tyr700Ter
  • NP_001395368.1:p.Tyr700Ter
  • NP_001395369.1:p.Tyr700Ter
  • NP_001395370.1:p.Tyr700Ter
  • NP_001395371.1:p.Tyr700Ter
  • NP_001395372.1:p.Tyr700Ter
  • NP_001395373.1:p.Tyr700Ter
  • NP_001395374.1:p.Tyr699Ter
  • NP_001395375.1:p.Tyr699Ter
  • NP_001395376.1:p.Tyr699Ter
  • NP_001395377.1:p.Tyr699Ter
  • NP_001395379.1:p.Tyr699Ter
  • NP_001395380.1:p.Tyr697Ter
  • NP_001395381.1:p.Tyr695Ter
  • NP_001395382.1:p.Tyr695Ter
  • NP_001395383.1:p.Tyr695Ter
  • NP_001395384.1:p.Tyr695Ter
  • NP_001395385.1:p.Tyr695Ter
  • NP_001395386.1:p.Tyr695Ter
  • NP_001395387.1:p.Tyr694Ter
  • NP_001395388.1:p.Tyr694Ter
  • NP_001395389.1:p.Tyr694Ter
  • NP_001395390.1:p.Tyr694Ter
  • NP_001395391.1:p.Tyr694Ter
  • NP_001395392.1:p.Tyr694Ter
  • NP_001395393.1:p.Tyr694Ter
  • NP_001395394.1:p.Tyr694Ter
  • NP_001395395.1:p.Tyr694Ter
  • NP_001395396.1:p.Tyr694Ter
  • NP_001395397.1:p.Tyr693Ter
  • NP_001395398.1:p.Tyr693Ter
  • NP_001395399.1:p.Tyr693Ter
  • NP_001395403.1:p.Tyr675Ter
  • NP_001395404.1:p.Tyr674Ter
  • NP_001395405.1:p.Tyr674Ter
  • NP_001395407.1:p.Tyr672Ter
  • NP_001395408.1:p.Tyr672Ter
  • NP_001395409.1:p.Tyr672Ter
  • NP_001395410.1:p.Tyr671Ter
  • NP_001395411.1:p.Tyr671Ter
  • NP_001395412.1:p.Tyr671Ter
  • NP_001395413.1:p.Tyr671Ter
  • NP_001395414.1:p.Tyr671Ter
  • NP_001395418.1:p.Tyr671Ter
  • NP_001395419.1:p.Tyr671Ter
  • NP_001395420.1:p.Tyr671Ter
  • NP_001395421.1:p.Tyr670Ter
  • NP_001395422.1:p.Tyr670Ter
  • NP_001395423.1:p.Tyr662Ter
  • NP_001395424.1:p.Tyr660Ter
  • NP_001395425.1:p.Tyr654Ter
  • NP_001395426.1:p.Tyr654Ter
  • NP_001395427.1:p.Tyr654Ter
  • NP_001395428.1:p.Tyr654Ter
  • NP_001395429.1:p.Tyr654Ter
  • NP_001395430.1:p.Tyr654Ter
  • NP_001395431.1:p.Tyr653Ter
  • NP_001395432.1:p.Tyr653Ter
  • NP_001395433.1:p.Tyr653Ter
  • NP_001395434.1:p.Tyr652Ter
  • NP_001395435.1:p.Tyr633Ter
  • NP_001395436.1:p.Tyr632Ter
  • NP_001395437.1:p.Tyr629Ter
  • NP_001395438.1:p.Tyr628Ter
  • NP_001395439.1:p.Tyr615Ter
  • NP_001395440.1:p.Tyr614Ter
  • NP_001395441.1:p.Tyr574Ter
  • NP_001395442.1:p.Tyr565Ter
  • NP_001395443.1:p.Tyr433Ter
  • NP_009225.1:p.Tyr1845Ter
  • NP_009225.1:p.Tyr1845Ter
  • NP_009228.2:p.Tyr1798Ter
  • NP_009229.2:p.Tyr741Ter
  • NP_009229.2:p.Tyr741Ter
  • NP_009231.2:p.Tyr1866Ter
  • NP_009235.2:p.Tyr741Ter
  • LRG_292t1:c.5535C>G
  • LRG_292:g.172249C>G
  • LRG_292p1:p.Tyr1845Ter
  • NC_000017.10:g.41197752G>C
  • NM_007294.3:c.5535C>G
  • NM_007298.3:c.2223C>G
  • NR_027676.2:n.5712C>G
  • p.Tyr1845X
Protein change:
Y1548*
Links:
dbSNP: rs80356977
NCBI 1000 Genomes Browser:
rs80356977
Molecular consequence:
  • NM_007299.4:c.*49C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NR_027676.2:n.5712C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001407571.1:c.5322C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407581.1:c.5601C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407582.1:c.5601C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407583.1:c.5598C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407585.1:c.5598C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407587.1:c.5598C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407590.1:c.5595C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407591.1:c.5595C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407593.1:c.5535C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407594.1:c.5535C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407596.1:c.5535C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407597.1:c.5535C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407598.1:c.5535C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407602.1:c.5535C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407603.1:c.5535C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407605.1:c.5535C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407610.1:c.5532C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407611.1:c.5532C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407612.1:c.5532C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407613.1:c.5532C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407614.1:c.5532C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407615.1:c.5532C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407616.1:c.5532C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407617.1:c.5532C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407618.1:c.5532C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407619.1:c.5532C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407620.1:c.5532C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407621.1:c.5532C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407622.1:c.5532C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407623.1:c.5532C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407624.1:c.5532C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407625.1:c.5532C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407626.1:c.5532C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407627.1:c.5529C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407628.1:c.5529C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407629.1:c.5529C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407630.1:c.5529C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407631.1:c.5529C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407632.1:c.5529C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407633.1:c.5529C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407634.1:c.5529C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407635.1:c.5529C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407636.1:c.5529C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407637.1:c.5529C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407638.1:c.5529C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407639.1:c.5529C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407640.1:c.5529C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407641.1:c.5529C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407642.1:c.5529C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407644.1:c.5526C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407645.1:c.5526C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407646.1:c.5523C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407647.1:c.5520C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407648.1:c.5478C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407649.1:c.5475C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407652.1:c.5457C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407653.1:c.5457C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407654.1:c.5457C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407655.1:c.5457C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407656.1:c.5454C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407657.1:c.5454C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407658.1:c.5454C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407659.1:c.5451C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407660.1:c.5451C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407661.1:c.5451C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407662.1:c.5451C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407663.1:c.5451C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407664.1:c.5412C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407665.1:c.5412C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407666.1:c.5412C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407667.1:c.5412C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407668.1:c.5412C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407669.1:c.5412C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407670.1:c.5409C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407671.1:c.5409C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407672.1:c.5409C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407673.1:c.5409C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407674.1:c.5409C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407675.1:c.5409C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407676.1:c.5409C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407677.1:c.5409C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407678.1:c.5409C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407679.1:c.5409C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407680.1:c.5409C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407681.1:c.5406C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407682.1:c.5406C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407683.1:c.5406C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407684.1:c.5406C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407685.1:c.5406C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407686.1:c.5406C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407687.1:c.5406C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407688.1:c.5406C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407689.1:c.5406C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407690.1:c.5403C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407691.1:c.5403C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407692.1:c.5394C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407694.1:c.5394C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407695.1:c.5394C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407696.1:c.5394C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407697.1:c.5394C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407698.1:c.5394C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407724.1:c.5394C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407725.1:c.5394C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407726.1:c.5394C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407727.1:c.5394C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407728.1:c.5394C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407729.1:c.5394C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407730.1:c.5394C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407731.1:c.5394C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407732.1:c.5391C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407733.1:c.5391C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407734.1:c.5391C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407735.1:c.5391C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407736.1:c.5391C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407737.1:c.5391C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407738.1:c.5391C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407739.1:c.5391C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407740.1:c.5391C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407741.1:c.5391C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407742.1:c.5391C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407743.1:c.5391C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407744.1:c.5391C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407745.1:c.5391C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407746.1:c.5391C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407747.1:c.5391C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407748.1:c.5391C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407749.1:c.5391C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407750.1:c.5391C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407751.1:c.5391C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407752.1:c.5391C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407838.1:c.5388C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407839.1:c.5388C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407841.1:c.5388C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407842.1:c.5388C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407843.1:c.5388C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407844.1:c.5388C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407845.1:c.5388C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407846.1:c.5388C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407847.1:c.5388C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407848.1:c.5388C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407849.1:c.5388C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407850.1:c.5388C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407851.1:c.5388C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407852.1:c.5388C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407853.1:c.5388C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407862.1:c.5334C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407863.1:c.5331C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407874.1:c.5328C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407875.1:c.5328C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407879.1:c.5325C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407881.1:c.5325C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407882.1:c.5325C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407884.1:c.5325C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407885.1:c.5325C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407886.1:c.5325C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407887.1:c.5325C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407889.1:c.5325C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407894.1:c.5322C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407895.1:c.5322C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407896.1:c.5322C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407897.1:c.5322C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407898.1:c.5322C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407899.1:c.5322C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407900.1:c.5322C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407902.1:c.5322C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407904.1:c.5322C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407906.1:c.5322C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407907.1:c.5322C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407908.1:c.5322C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407909.1:c.5322C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407910.1:c.5322C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407915.1:c.5319C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407916.1:c.5319C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407917.1:c.5319C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407918.1:c.5319C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407919.1:c.5283C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407920.1:c.5271C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407921.1:c.5271C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407922.1:c.5271C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407923.1:c.5271C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407924.1:c.5271C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407925.1:c.5271C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407926.1:c.5271C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407927.1:c.5268C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407928.1:c.5268C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407929.1:c.5268C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407930.1:c.5268C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407931.1:c.5268C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407932.1:c.5268C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407933.1:c.5268C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407934.1:c.5265C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407935.1:c.5265C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407936.1:c.5265C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407946.1:c.5202C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407947.1:c.5202C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407948.1:c.5202C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407949.1:c.5202C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407950.1:c.5199C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407951.1:c.5199C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407952.1:c.5199C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407953.1:c.5199C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407954.1:c.5199C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407955.1:c.5199C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407956.1:c.5196C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407957.1:c.5196C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407958.1:c.5196C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407959.1:c.5154C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407960.1:c.5151C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407962.1:c.5151C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407963.1:c.5148C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407964.1:c.5073C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407965.1:c.5028C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407966.1:c.4647C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407967.1:c.4644C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407968.1:c.2931C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407969.1:c.2928C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407970.1:c.2292C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407971.1:c.2292C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407972.1:c.2289C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407973.1:c.2226C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407974.1:c.2226C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407975.1:c.2226C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407976.1:c.2226C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407977.1:c.2226C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407978.1:c.2226C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407979.1:c.2223C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407980.1:c.2223C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407981.1:c.2223C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407982.1:c.2223C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407983.1:c.2223C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407984.1:c.2223C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407985.1:c.2223C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407986.1:c.2223C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407990.1:c.2223C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407991.1:c.2223C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407992.1:c.2223C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407993.1:c.2223C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408392.1:c.2220C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408396.1:c.2220C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408397.1:c.2220C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408398.1:c.2220C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408399.1:c.2220C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408400.1:c.2220C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408401.1:c.2220C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408402.1:c.2220C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408403.1:c.2220C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408404.1:c.2220C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408406.1:c.2217C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408407.1:c.2217C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408408.1:c.2217C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408409.1:c.2214C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408410.1:c.2151C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408411.1:c.2148C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408412.1:c.2145C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408413.1:c.2145C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408414.1:c.2145C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408415.1:c.2145C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408416.1:c.2145C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408418.1:c.2109C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408419.1:c.2109C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408420.1:c.2109C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408421.1:c.2106C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408422.1:c.2106C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408423.1:c.2106C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408424.1:c.2106C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408425.1:c.2103C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408426.1:c.2103C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408427.1:c.2103C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408428.1:c.2103C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408429.1:c.2103C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408430.1:c.2103C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408431.1:c.2103C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408432.1:c.2100C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408433.1:c.2100C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408434.1:c.2100C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408435.1:c.2100C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408436.1:c.2100C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408437.1:c.2100C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408438.1:c.2100C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408439.1:c.2100C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408440.1:c.2100C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408441.1:c.2100C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408442.1:c.2100C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408443.1:c.2100C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408444.1:c.2100C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408445.1:c.2097C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408446.1:c.2097C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408447.1:c.2097C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408448.1:c.2097C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408450.1:c.2097C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408451.1:c.2091C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408452.1:c.2085C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408453.1:c.2085C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408454.1:c.2085C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408455.1:c.2085C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408456.1:c.2085C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408457.1:c.2085C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408458.1:c.2082C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408459.1:c.2082C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408460.1:c.2082C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408461.1:c.2082C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408462.1:c.2082C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408463.1:c.2082C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408464.1:c.2082C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408465.1:c.2082C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408466.1:c.2082C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408467.1:c.2082C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408468.1:c.2079C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408469.1:c.2079C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408470.1:c.2079C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408474.1:c.2025C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408475.1:c.2022C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408476.1:c.2022C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408478.1:c.2016C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408479.1:c.2016C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408480.1:c.2016C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408481.1:c.2013C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408482.1:c.2013C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408483.1:c.2013C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408484.1:c.2013C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408485.1:c.2013C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408489.1:c.2013C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408490.1:c.2013C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408491.1:c.2013C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408492.1:c.2010C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408493.1:c.2010C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408494.1:c.1986C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408495.1:c.1980C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408496.1:c.1962C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408497.1:c.1962C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408498.1:c.1962C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408499.1:c.1962C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408500.1:c.1962C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408501.1:c.1962C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408502.1:c.1959C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408503.1:c.1959C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408504.1:c.1959C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408505.1:c.1956C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408506.1:c.1899C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408507.1:c.1896C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408508.1:c.1887C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408509.1:c.1884C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408510.1:c.1845C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408511.1:c.1842C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408512.1:c.1722C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408513.1:c.1695C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408514.1:c.1299C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007294.4:c.5535C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007297.4:c.5394C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007298.4:c.2223C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007300.4:c.5598C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007304.2:c.2223C>G - nonsense - [Sequence Ontology: SO:0001587]
Functional consequence:
functionally_abnormal [Sequence Ontology: SO:0002218] - Comment(s)
Observations:
1

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000323884Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
reviewed by expert panel

(ENIGMA BRCA1/2 Classification Criteria (2015))		Pathogenic
(Oct 18, 2016) 		germlinecuration

Citation Link,

SCV000326353Consortium 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,

SCV001237652Brotman Baty Institute, University of Washington
no classification provided
not providednot applicablein vitro

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot provided1not providednot providednot providedclinical testing, curation
not providednot applicablenot applicablenot providednot providednot providednot providednot providedin vitro

Citations

PubMed

Accurate classification of BRCA1 variants with saturation genome editing.

Findlay GM, Daza RM, Martin B, Zhang MD, Leith AP, Gasperini M, Janizek JD, Huang X, Starita LM, Shendure J.

Nature. 2018 Oct;562(7726):217-222. doi: 10.1038/s41586-018-0461-z. Epub 2018 Sep 12.

PubMed [citation]
PMID:
30209399
PMCID:
PMC6181777

Details of each submission

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000323884.2

#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, SCV000326353.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot provided1not provided

From Brotman Baty Institute, University of Washington, SCV001237652.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedin vitro PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not applicablenot applicablenot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2024