U.S. flag

An official website of the United States government

NM_007294.4(BRCA1):c.2299A>T (p.Ser767Cys) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 2, 2011
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:
RCV000077099.4

Allele description [Variation Report for NM_007294.4(BRCA1):c.2299A>T (p.Ser767Cys)]

NM_007294.4(BRCA1):c.2299A>T (p.Ser767Cys)

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.2299A>T (p.Ser767Cys)
HGVS:
  • NC_000017.11:g.43093232T>A
  • NG_005905.2:g.124752A>T
  • NM_001407571.1:c.2086A>T
  • NM_001407581.1:c.2299A>T
  • NM_001407582.1:c.2299A>T
  • NM_001407583.1:c.2299A>T
  • NM_001407585.1:c.2299A>T
  • NM_001407587.1:c.2296A>T
  • NM_001407590.1:c.2296A>T
  • NM_001407591.1:c.2296A>T
  • NM_001407593.1:c.2299A>T
  • NM_001407594.1:c.2299A>T
  • NM_001407596.1:c.2299A>T
  • NM_001407597.1:c.2299A>T
  • NM_001407598.1:c.2299A>T
  • NM_001407602.1:c.2299A>T
  • NM_001407603.1:c.2299A>T
  • NM_001407605.1:c.2299A>T
  • NM_001407610.1:c.2296A>T
  • NM_001407611.1:c.2296A>T
  • NM_001407612.1:c.2296A>T
  • NM_001407613.1:c.2296A>T
  • NM_001407614.1:c.2296A>T
  • NM_001407615.1:c.2296A>T
  • NM_001407616.1:c.2299A>T
  • NM_001407617.1:c.2299A>T
  • NM_001407618.1:c.2299A>T
  • NM_001407619.1:c.2299A>T
  • NM_001407620.1:c.2299A>T
  • NM_001407621.1:c.2299A>T
  • NM_001407622.1:c.2299A>T
  • NM_001407623.1:c.2299A>T
  • NM_001407624.1:c.2299A>T
  • NM_001407625.1:c.2299A>T
  • NM_001407626.1:c.2299A>T
  • NM_001407627.1:c.2296A>T
  • NM_001407628.1:c.2296A>T
  • NM_001407629.1:c.2296A>T
  • NM_001407630.1:c.2296A>T
  • NM_001407631.1:c.2296A>T
  • NM_001407632.1:c.2296A>T
  • NM_001407633.1:c.2296A>T
  • NM_001407634.1:c.2296A>T
  • NM_001407635.1:c.2296A>T
  • NM_001407636.1:c.2296A>T
  • NM_001407637.1:c.2296A>T
  • NM_001407638.1:c.2296A>T
  • NM_001407639.1:c.2299A>T
  • NM_001407640.1:c.2299A>T
  • NM_001407641.1:c.2299A>T
  • NM_001407642.1:c.2299A>T
  • NM_001407644.1:c.2296A>T
  • NM_001407645.1:c.2296A>T
  • NM_001407646.1:c.2290A>T
  • NM_001407647.1:c.2290A>T
  • NM_001407648.1:c.2176A>T
  • NM_001407649.1:c.2173A>T
  • NM_001407652.1:c.2299A>T
  • NM_001407653.1:c.2221A>T
  • NM_001407654.1:c.2221A>T
  • NM_001407655.1:c.2221A>T
  • NM_001407656.1:c.2221A>T
  • NM_001407657.1:c.2221A>T
  • NM_001407658.1:c.2221A>T
  • NM_001407659.1:c.2218A>T
  • NM_001407660.1:c.2218A>T
  • NM_001407661.1:c.2218A>T
  • NM_001407662.1:c.2218A>T
  • NM_001407663.1:c.2221A>T
  • NM_001407664.1:c.2176A>T
  • NM_001407665.1:c.2176A>T
  • NM_001407666.1:c.2176A>T
  • NM_001407667.1:c.2176A>T
  • NM_001407668.1:c.2176A>T
  • NM_001407669.1:c.2176A>T
  • NM_001407670.1:c.2173A>T
  • NM_001407671.1:c.2173A>T
  • NM_001407672.1:c.2173A>T
  • NM_001407673.1:c.2173A>T
  • NM_001407674.1:c.2176A>T
  • NM_001407675.1:c.2176A>T
  • NM_001407676.1:c.2176A>T
  • NM_001407677.1:c.2176A>T
  • NM_001407678.1:c.2176A>T
  • NM_001407679.1:c.2176A>T
  • NM_001407680.1:c.2176A>T
  • NM_001407681.1:c.2176A>T
  • NM_001407682.1:c.2176A>T
  • NM_001407683.1:c.2176A>T
  • NM_001407684.1:c.2299A>T
  • NM_001407685.1:c.2173A>T
  • NM_001407686.1:c.2173A>T
  • NM_001407687.1:c.2173A>T
  • NM_001407688.1:c.2173A>T
  • NM_001407689.1:c.2173A>T
  • NM_001407690.1:c.2173A>T
  • NM_001407691.1:c.2173A>T
  • NM_001407692.1:c.2158A>T
  • NM_001407694.1:c.2158A>T
  • NM_001407695.1:c.2158A>T
  • NM_001407696.1:c.2158A>T
  • NM_001407697.1:c.2158A>T
  • NM_001407698.1:c.2158A>T
  • NM_001407724.1:c.2158A>T
  • NM_001407725.1:c.2158A>T
  • NM_001407726.1:c.2158A>T
  • NM_001407727.1:c.2158A>T
  • NM_001407728.1:c.2158A>T
  • NM_001407729.1:c.2158A>T
  • NM_001407730.1:c.2158A>T
  • NM_001407731.1:c.2158A>T
  • NM_001407732.1:c.2158A>T
  • NM_001407733.1:c.2158A>T
  • NM_001407734.1:c.2158A>T
  • NM_001407735.1:c.2158A>T
  • NM_001407736.1:c.2158A>T
  • NM_001407737.1:c.2158A>T
  • NM_001407738.1:c.2158A>T
  • NM_001407739.1:c.2158A>T
  • NM_001407740.1:c.2155A>T
  • NM_001407741.1:c.2155A>T
  • NM_001407742.1:c.2155A>T
  • NM_001407743.1:c.2155A>T
  • NM_001407744.1:c.2155A>T
  • NM_001407745.1:c.2155A>T
  • NM_001407746.1:c.2155A>T
  • NM_001407747.1:c.2155A>T
  • NM_001407748.1:c.2155A>T
  • NM_001407749.1:c.2155A>T
  • NM_001407750.1:c.2158A>T
  • NM_001407751.1:c.2158A>T
  • NM_001407752.1:c.2158A>T
  • NM_001407838.1:c.2155A>T
  • NM_001407839.1:c.2155A>T
  • NM_001407841.1:c.2155A>T
  • NM_001407842.1:c.2155A>T
  • NM_001407843.1:c.2155A>T
  • NM_001407844.1:c.2155A>T
  • NM_001407845.1:c.2155A>T
  • NM_001407846.1:c.2155A>T
  • NM_001407847.1:c.2155A>T
  • NM_001407848.1:c.2155A>T
  • NM_001407849.1:c.2155A>T
  • NM_001407850.1:c.2158A>T
  • NM_001407851.1:c.2158A>T
  • NM_001407852.1:c.2158A>T
  • NM_001407853.1:c.2086A>T
  • NM_001407854.1:c.2299A>T
  • NM_001407858.1:c.2299A>T
  • NM_001407859.1:c.2299A>T
  • NM_001407860.1:c.2296A>T
  • NM_001407861.1:c.2296A>T
  • NM_001407862.1:c.2098A>T
  • NM_001407863.1:c.2176A>T
  • NM_001407874.1:c.2095A>T
  • NM_001407875.1:c.2095A>T
  • NM_001407879.1:c.2089A>T
  • NM_001407881.1:c.2089A>T
  • NM_001407882.1:c.2089A>T
  • NM_001407884.1:c.2089A>T
  • NM_001407885.1:c.2089A>T
  • NM_001407886.1:c.2089A>T
  • NM_001407887.1:c.2089A>T
  • NM_001407889.1:c.2089A>T
  • NM_001407894.1:c.2086A>T
  • NM_001407895.1:c.2086A>T
  • NM_001407896.1:c.2086A>T
  • NM_001407897.1:c.2086A>T
  • NM_001407898.1:c.2086A>T
  • NM_001407899.1:c.2086A>T
  • NM_001407900.1:c.2089A>T
  • NM_001407902.1:c.2089A>T
  • NM_001407904.1:c.2089A>T
  • NM_001407906.1:c.2089A>T
  • NM_001407907.1:c.2089A>T
  • NM_001407908.1:c.2089A>T
  • NM_001407909.1:c.2089A>T
  • NM_001407910.1:c.2089A>T
  • NM_001407915.1:c.2086A>T
  • NM_001407916.1:c.2086A>T
  • NM_001407917.1:c.2086A>T
  • NM_001407918.1:c.2086A>T
  • NM_001407919.1:c.2176A>T
  • NM_001407920.1:c.2035A>T
  • NM_001407921.1:c.2035A>T
  • NM_001407922.1:c.2035A>T
  • NM_001407923.1:c.2035A>T
  • NM_001407924.1:c.2035A>T
  • NM_001407925.1:c.2035A>T
  • NM_001407926.1:c.2035A>T
  • NM_001407927.1:c.2035A>T
  • NM_001407928.1:c.2035A>T
  • NM_001407929.1:c.2035A>T
  • NM_001407930.1:c.2032A>T
  • NM_001407931.1:c.2032A>T
  • NM_001407932.1:c.2032A>T
  • NM_001407933.1:c.2035A>T
  • NM_001407934.1:c.2032A>T
  • NM_001407935.1:c.2035A>T
  • NM_001407936.1:c.2032A>T
  • NM_001407937.1:c.2176A>T
  • NM_001407938.1:c.2176A>T
  • NM_001407939.1:c.2176A>T
  • NM_001407940.1:c.2173A>T
  • NM_001407941.1:c.2173A>T
  • NM_001407942.1:c.2158A>T
  • NM_001407943.1:c.2155A>T
  • NM_001407944.1:c.2158A>T
  • NM_001407945.1:c.2158A>T
  • NM_001407946.1:c.1966A>T
  • NM_001407947.1:c.1966A>T
  • NM_001407948.1:c.1966A>T
  • NM_001407949.1:c.1966A>T
  • NM_001407950.1:c.1966A>T
  • NM_001407951.1:c.1966A>T
  • NM_001407952.1:c.1966A>T
  • NM_001407953.1:c.1966A>T
  • NM_001407954.1:c.1963A>T
  • NM_001407955.1:c.1963A>T
  • NM_001407956.1:c.1963A>T
  • NM_001407957.1:c.1966A>T
  • NM_001407958.1:c.1963A>T
  • NM_001407959.1:c.1918A>T
  • NM_001407960.1:c.1918A>T
  • NM_001407962.1:c.1915A>T
  • NM_001407963.1:c.1918A>T
  • NM_001407964.1:c.2155A>T
  • NM_001407965.1:c.1795A>T
  • NM_001407966.1:c.1411A>T
  • NM_001407967.1:c.1411A>T
  • NM_001407968.1:c.788-1093A>T
  • NM_001407969.1:c.788-1093A>T
  • NM_001407970.1:c.787+1512A>T
  • NM_001407971.1:c.787+1512A>T
  • NM_001407972.1:c.784+1512A>T
  • NM_001407973.1:c.787+1512A>T
  • NM_001407974.1:c.787+1512A>T
  • NM_001407975.1:c.787+1512A>T
  • NM_001407976.1:c.787+1512A>T
  • NM_001407977.1:c.787+1512A>T
  • NM_001407978.1:c.787+1512A>T
  • NM_001407979.1:c.787+1512A>T
  • NM_001407980.1:c.787+1512A>T
  • NM_001407981.1:c.787+1512A>T
  • NM_001407982.1:c.787+1512A>T
  • NM_001407983.1:c.787+1512A>T
  • NM_001407984.1:c.784+1512A>T
  • NM_001407985.1:c.784+1512A>T
  • NM_001407986.1:c.784+1512A>T
  • NM_001407990.1:c.787+1512A>T
  • NM_001407991.1:c.784+1512A>T
  • NM_001407992.1:c.784+1512A>T
  • NM_001407993.1:c.787+1512A>T
  • NM_001408392.1:c.784+1512A>T
  • NM_001408396.1:c.784+1512A>T
  • NM_001408397.1:c.784+1512A>T
  • NM_001408398.1:c.784+1512A>T
  • NM_001408399.1:c.784+1512A>T
  • NM_001408400.1:c.784+1512A>T
  • NM_001408401.1:c.784+1512A>T
  • NM_001408402.1:c.784+1512A>T
  • NM_001408403.1:c.787+1512A>T
  • NM_001408404.1:c.787+1512A>T
  • NM_001408406.1:c.790+1509A>T
  • NM_001408407.1:c.784+1512A>T
  • NM_001408408.1:c.778+1512A>T
  • NM_001408409.1:c.709+1512A>T
  • NM_001408410.1:c.646+1512A>T
  • NM_001408411.1:c.709+1512A>T
  • NM_001408412.1:c.709+1512A>T
  • NM_001408413.1:c.706+1512A>T
  • NM_001408414.1:c.709+1512A>T
  • NM_001408415.1:c.709+1512A>T
  • NM_001408416.1:c.706+1512A>T
  • NM_001408418.1:c.671-2200A>T
  • NM_001408419.1:c.671-2200A>T
  • NM_001408420.1:c.671-2200A>T
  • NM_001408421.1:c.668-2200A>T
  • NM_001408422.1:c.671-2200A>T
  • NM_001408423.1:c.671-2200A>T
  • NM_001408424.1:c.668-2200A>T
  • NM_001408425.1:c.664+1512A>T
  • NM_001408426.1:c.664+1512A>T
  • NM_001408427.1:c.664+1512A>T
  • NM_001408428.1:c.664+1512A>T
  • NM_001408429.1:c.664+1512A>T
  • NM_001408430.1:c.664+1512A>T
  • NM_001408431.1:c.668-2200A>T
  • NM_001408432.1:c.661+1512A>T
  • NM_001408433.1:c.661+1512A>T
  • NM_001408434.1:c.661+1512A>T
  • NM_001408435.1:c.661+1512A>T
  • NM_001408436.1:c.664+1512A>T
  • NM_001408437.1:c.664+1512A>T
  • NM_001408438.1:c.664+1512A>T
  • NM_001408439.1:c.664+1512A>T
  • NM_001408440.1:c.664+1512A>T
  • NM_001408441.1:c.664+1512A>T
  • NM_001408442.1:c.664+1512A>T
  • NM_001408443.1:c.664+1512A>T
  • NM_001408444.1:c.664+1512A>T
  • NM_001408445.1:c.661+1512A>T
  • NM_001408446.1:c.661+1512A>T
  • NM_001408447.1:c.661+1512A>T
  • NM_001408448.1:c.661+1512A>T
  • NM_001408450.1:c.661+1512A>T
  • NM_001408451.1:c.652+1512A>T
  • NM_001408452.1:c.646+1512A>T
  • NM_001408453.1:c.646+1512A>T
  • NM_001408454.1:c.646+1512A>T
  • NM_001408455.1:c.646+1512A>T
  • NM_001408456.1:c.646+1512A>T
  • NM_001408457.1:c.646+1512A>T
  • NM_001408458.1:c.646+1512A>T
  • NM_001408459.1:c.646+1512A>T
  • NM_001408460.1:c.646+1512A>T
  • NM_001408461.1:c.646+1512A>T
  • NM_001408462.1:c.643+1512A>T
  • NM_001408463.1:c.643+1512A>T
  • NM_001408464.1:c.643+1512A>T
  • NM_001408465.1:c.643+1512A>T
  • NM_001408466.1:c.646+1512A>T
  • NM_001408467.1:c.646+1512A>T
  • NM_001408468.1:c.643+1512A>T
  • NM_001408469.1:c.646+1512A>T
  • NM_001408470.1:c.643+1512A>T
  • NM_001408472.1:c.787+1512A>T
  • NM_001408473.1:c.784+1512A>T
  • NM_001408474.1:c.586+1512A>T
  • NM_001408475.1:c.583+1512A>T
  • NM_001408476.1:c.586+1512A>T
  • NM_001408478.1:c.577+1512A>T
  • NM_001408479.1:c.577+1512A>T
  • NM_001408480.1:c.577+1512A>T
  • NM_001408481.1:c.577+1512A>T
  • NM_001408482.1:c.577+1512A>T
  • NM_001408483.1:c.577+1512A>T
  • NM_001408484.1:c.577+1512A>T
  • NM_001408485.1:c.577+1512A>T
  • NM_001408489.1:c.577+1512A>T
  • NM_001408490.1:c.574+1512A>T
  • NM_001408491.1:c.574+1512A>T
  • NM_001408492.1:c.577+1512A>T
  • NM_001408493.1:c.574+1512A>T
  • NM_001408494.1:c.548-2200A>T
  • NM_001408495.1:c.545-2200A>T
  • NM_001408496.1:c.523+1512A>T
  • NM_001408497.1:c.523+1512A>T
  • NM_001408498.1:c.523+1512A>T
  • NM_001408499.1:c.523+1512A>T
  • NM_001408500.1:c.523+1512A>T
  • NM_001408501.1:c.523+1512A>T
  • NM_001408502.1:c.454+1512A>T
  • NM_001408503.1:c.520+1512A>T
  • NM_001408504.1:c.520+1512A>T
  • NM_001408505.1:c.520+1512A>T
  • NM_001408506.1:c.461-2200A>T
  • NM_001408507.1:c.461-2200A>T
  • NM_001408508.1:c.451+1512A>T
  • NM_001408509.1:c.451+1512A>T
  • NM_001408510.1:c.406+1512A>T
  • NM_001408511.1:c.404-2200A>T
  • NM_001408512.1:c.283+1512A>T
  • NM_001408513.1:c.577+1512A>T
  • NM_001408514.1:c.577+1512A>T
  • NM_007294.4:c.2299A>TMANE SELECT
  • NM_007297.4:c.2158A>T
  • NM_007298.4:c.787+1512A>T
  • NM_007299.4:c.787+1512A>T
  • NM_007300.4:c.2299A>T
  • NP_001394500.1:p.Ser696Cys
  • NP_001394510.1:p.Ser767Cys
  • NP_001394511.1:p.Ser767Cys
  • NP_001394512.1:p.Ser767Cys
  • NP_001394514.1:p.Ser767Cys
  • NP_001394516.1:p.Ser766Cys
  • NP_001394519.1:p.Ser766Cys
  • NP_001394520.1:p.Ser766Cys
  • NP_001394522.1:p.Ser767Cys
  • NP_001394523.1:p.Ser767Cys
  • NP_001394525.1:p.Ser767Cys
  • NP_001394526.1:p.Ser767Cys
  • NP_001394527.1:p.Ser767Cys
  • NP_001394531.1:p.Ser767Cys
  • NP_001394532.1:p.Ser767Cys
  • NP_001394534.1:p.Ser767Cys
  • NP_001394539.1:p.Ser766Cys
  • NP_001394540.1:p.Ser766Cys
  • NP_001394541.1:p.Ser766Cys
  • NP_001394542.1:p.Ser766Cys
  • NP_001394543.1:p.Ser766Cys
  • NP_001394544.1:p.Ser766Cys
  • NP_001394545.1:p.Ser767Cys
  • NP_001394546.1:p.Ser767Cys
  • NP_001394547.1:p.Ser767Cys
  • NP_001394548.1:p.Ser767Cys
  • NP_001394549.1:p.Ser767Cys
  • NP_001394550.1:p.Ser767Cys
  • NP_001394551.1:p.Ser767Cys
  • NP_001394552.1:p.Ser767Cys
  • NP_001394553.1:p.Ser767Cys
  • NP_001394554.1:p.Ser767Cys
  • NP_001394555.1:p.Ser767Cys
  • NP_001394556.1:p.Ser766Cys
  • NP_001394557.1:p.Ser766Cys
  • NP_001394558.1:p.Ser766Cys
  • NP_001394559.1:p.Ser766Cys
  • NP_001394560.1:p.Ser766Cys
  • NP_001394561.1:p.Ser766Cys
  • NP_001394562.1:p.Ser766Cys
  • NP_001394563.1:p.Ser766Cys
  • NP_001394564.1:p.Ser766Cys
  • NP_001394565.1:p.Ser766Cys
  • NP_001394566.1:p.Ser766Cys
  • NP_001394567.1:p.Ser766Cys
  • NP_001394568.1:p.Ser767Cys
  • NP_001394569.1:p.Ser767Cys
  • NP_001394570.1:p.Ser767Cys
  • NP_001394571.1:p.Ser767Cys
  • NP_001394573.1:p.Ser766Cys
  • NP_001394574.1:p.Ser766Cys
  • NP_001394575.1:p.Ser764Cys
  • NP_001394576.1:p.Ser764Cys
  • NP_001394577.1:p.Ser726Cys
  • NP_001394578.1:p.Ser725Cys
  • NP_001394581.1:p.Ser767Cys
  • NP_001394582.1:p.Ser741Cys
  • NP_001394583.1:p.Ser741Cys
  • NP_001394584.1:p.Ser741Cys
  • NP_001394585.1:p.Ser741Cys
  • NP_001394586.1:p.Ser741Cys
  • NP_001394587.1:p.Ser741Cys
  • NP_001394588.1:p.Ser740Cys
  • NP_001394589.1:p.Ser740Cys
  • NP_001394590.1:p.Ser740Cys
  • NP_001394591.1:p.Ser740Cys
  • NP_001394592.1:p.Ser741Cys
  • NP_001394593.1:p.Ser726Cys
  • NP_001394594.1:p.Ser726Cys
  • NP_001394595.1:p.Ser726Cys
  • NP_001394596.1:p.Ser726Cys
  • NP_001394597.1:p.Ser726Cys
  • NP_001394598.1:p.Ser726Cys
  • NP_001394599.1:p.Ser725Cys
  • NP_001394600.1:p.Ser725Cys
  • NP_001394601.1:p.Ser725Cys
  • NP_001394602.1:p.Ser725Cys
  • NP_001394603.1:p.Ser726Cys
  • NP_001394604.1:p.Ser726Cys
  • NP_001394605.1:p.Ser726Cys
  • NP_001394606.1:p.Ser726Cys
  • NP_001394607.1:p.Ser726Cys
  • NP_001394608.1:p.Ser726Cys
  • NP_001394609.1:p.Ser726Cys
  • NP_001394610.1:p.Ser726Cys
  • NP_001394611.1:p.Ser726Cys
  • NP_001394612.1:p.Ser726Cys
  • NP_001394613.1:p.Ser767Cys
  • NP_001394614.1:p.Ser725Cys
  • NP_001394615.1:p.Ser725Cys
  • NP_001394616.1:p.Ser725Cys
  • NP_001394617.1:p.Ser725Cys
  • NP_001394618.1:p.Ser725Cys
  • NP_001394619.1:p.Ser725Cys
  • NP_001394620.1:p.Ser725Cys
  • NP_001394621.1:p.Ser720Cys
  • NP_001394623.1:p.Ser720Cys
  • NP_001394624.1:p.Ser720Cys
  • NP_001394625.1:p.Ser720Cys
  • NP_001394626.1:p.Ser720Cys
  • NP_001394627.1:p.Ser720Cys
  • NP_001394653.1:p.Ser720Cys
  • NP_001394654.1:p.Ser720Cys
  • NP_001394655.1:p.Ser720Cys
  • NP_001394656.1:p.Ser720Cys
  • NP_001394657.1:p.Ser720Cys
  • NP_001394658.1:p.Ser720Cys
  • NP_001394659.1:p.Ser720Cys
  • NP_001394660.1:p.Ser720Cys
  • NP_001394661.1:p.Ser720Cys
  • NP_001394662.1:p.Ser720Cys
  • NP_001394663.1:p.Ser720Cys
  • NP_001394664.1:p.Ser720Cys
  • NP_001394665.1:p.Ser720Cys
  • NP_001394666.1:p.Ser720Cys
  • NP_001394667.1:p.Ser720Cys
  • NP_001394668.1:p.Ser720Cys
  • NP_001394669.1:p.Ser719Cys
  • NP_001394670.1:p.Ser719Cys
  • NP_001394671.1:p.Ser719Cys
  • NP_001394672.1:p.Ser719Cys
  • NP_001394673.1:p.Ser719Cys
  • NP_001394674.1:p.Ser719Cys
  • NP_001394675.1:p.Ser719Cys
  • NP_001394676.1:p.Ser719Cys
  • NP_001394677.1:p.Ser719Cys
  • NP_001394678.1:p.Ser719Cys
  • NP_001394679.1:p.Ser720Cys
  • NP_001394680.1:p.Ser720Cys
  • NP_001394681.1:p.Ser720Cys
  • NP_001394767.1:p.Ser719Cys
  • NP_001394768.1:p.Ser719Cys
  • NP_001394770.1:p.Ser719Cys
  • NP_001394771.1:p.Ser719Cys
  • NP_001394772.1:p.Ser719Cys
  • NP_001394773.1:p.Ser719Cys
  • NP_001394774.1:p.Ser719Cys
  • NP_001394775.1:p.Ser719Cys
  • NP_001394776.1:p.Ser719Cys
  • NP_001394777.1:p.Ser719Cys
  • NP_001394778.1:p.Ser719Cys
  • NP_001394779.1:p.Ser720Cys
  • NP_001394780.1:p.Ser720Cys
  • NP_001394781.1:p.Ser720Cys
  • NP_001394782.1:p.Ser696Cys
  • NP_001394783.1:p.Ser767Cys
  • NP_001394787.1:p.Ser767Cys
  • NP_001394788.1:p.Ser767Cys
  • NP_001394789.1:p.Ser766Cys
  • NP_001394790.1:p.Ser766Cys
  • NP_001394791.1:p.Ser700Cys
  • NP_001394792.1:p.Ser726Cys
  • NP_001394803.1:p.Ser699Cys
  • NP_001394804.1:p.Ser699Cys
  • NP_001394808.1:p.Ser697Cys
  • NP_001394810.1:p.Ser697Cys
  • NP_001394811.1:p.Ser697Cys
  • NP_001394813.1:p.Ser697Cys
  • NP_001394814.1:p.Ser697Cys
  • NP_001394815.1:p.Ser697Cys
  • NP_001394816.1:p.Ser697Cys
  • NP_001394818.1:p.Ser697Cys
  • NP_001394823.1:p.Ser696Cys
  • NP_001394824.1:p.Ser696Cys
  • NP_001394825.1:p.Ser696Cys
  • NP_001394826.1:p.Ser696Cys
  • NP_001394827.1:p.Ser696Cys
  • NP_001394828.1:p.Ser696Cys
  • NP_001394829.1:p.Ser697Cys
  • NP_001394831.1:p.Ser697Cys
  • NP_001394833.1:p.Ser697Cys
  • NP_001394835.1:p.Ser697Cys
  • NP_001394836.1:p.Ser697Cys
  • NP_001394837.1:p.Ser697Cys
  • NP_001394838.1:p.Ser697Cys
  • NP_001394839.1:p.Ser697Cys
  • NP_001394844.1:p.Ser696Cys
  • NP_001394845.1:p.Ser696Cys
  • NP_001394846.1:p.Ser696Cys
  • NP_001394847.1:p.Ser696Cys
  • NP_001394848.1:p.Ser726Cys
  • NP_001394849.1:p.Ser679Cys
  • NP_001394850.1:p.Ser679Cys
  • NP_001394851.1:p.Ser679Cys
  • NP_001394852.1:p.Ser679Cys
  • NP_001394853.1:p.Ser679Cys
  • NP_001394854.1:p.Ser679Cys
  • NP_001394855.1:p.Ser679Cys
  • NP_001394856.1:p.Ser679Cys
  • NP_001394857.1:p.Ser679Cys
  • NP_001394858.1:p.Ser679Cys
  • NP_001394859.1:p.Ser678Cys
  • NP_001394860.1:p.Ser678Cys
  • NP_001394861.1:p.Ser678Cys
  • NP_001394862.1:p.Ser679Cys
  • NP_001394863.1:p.Ser678Cys
  • NP_001394864.1:p.Ser679Cys
  • NP_001394865.1:p.Ser678Cys
  • NP_001394866.1:p.Ser726Cys
  • NP_001394867.1:p.Ser726Cys
  • NP_001394868.1:p.Ser726Cys
  • NP_001394869.1:p.Ser725Cys
  • NP_001394870.1:p.Ser725Cys
  • NP_001394871.1:p.Ser720Cys
  • NP_001394872.1:p.Ser719Cys
  • NP_001394873.1:p.Ser720Cys
  • NP_001394874.1:p.Ser720Cys
  • NP_001394875.1:p.Ser656Cys
  • NP_001394876.1:p.Ser656Cys
  • NP_001394877.1:p.Ser656Cys
  • NP_001394878.1:p.Ser656Cys
  • NP_001394879.1:p.Ser656Cys
  • NP_001394880.1:p.Ser656Cys
  • NP_001394881.1:p.Ser656Cys
  • NP_001394882.1:p.Ser656Cys
  • NP_001394883.1:p.Ser655Cys
  • NP_001394884.1:p.Ser655Cys
  • NP_001394885.1:p.Ser655Cys
  • NP_001394886.1:p.Ser656Cys
  • NP_001394887.1:p.Ser655Cys
  • NP_001394888.1:p.Ser640Cys
  • NP_001394889.1:p.Ser640Cys
  • NP_001394891.1:p.Ser639Cys
  • NP_001394892.1:p.Ser640Cys
  • NP_001394893.1:p.Ser719Cys
  • NP_001394894.1:p.Ser599Cys
  • NP_001394895.1:p.Ser471Cys
  • NP_001394896.1:p.Ser471Cys
  • NP_009225.1:p.Ser767Cys
  • NP_009225.1:p.Ser767Cys
  • NP_009228.2:p.Ser720Cys
  • NP_009231.2:p.Ser767Cys
  • LRG_292t1:c.2299A>T
  • LRG_292:g.124752A>T
  • LRG_292p1:p.Ser767Cys
  • NC_000017.10:g.41245249T>A
  • NM_007294.3:c.2299A>T
  • NR_027676.1:n.2435A>T
  • p.S767C
Nucleotide change:
2418A>T
Protein change:
S471C
Links:
dbSNP: rs80357194
NCBI 1000 Genomes Browser:
rs80357194
Molecular consequence:
  • NM_001407968.1:c.788-1093A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.788-1093A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.787+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.787+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.784+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.787+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.787+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.787+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.787+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.787+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.787+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.787+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.787+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.787+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.787+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.787+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.784+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.784+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.784+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.787+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.784+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.784+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.787+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.784+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.784+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.784+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.784+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.784+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.784+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.784+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.784+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.787+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.787+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.790+1509A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.784+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.778+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.709+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.646+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.709+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.709+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.706+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.709+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.709+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.706+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-2200A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-2200A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-2200A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-2200A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-2200A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-2200A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-2200A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.664+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.664+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.664+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.664+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.664+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.664+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-2200A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.661+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.661+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.661+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.661+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.664+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.664+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.664+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.664+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.664+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.664+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.664+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.664+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.664+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.661+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.661+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.661+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.661+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.661+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.652+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.646+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.646+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.646+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.646+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.646+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.646+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.646+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.646+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.646+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.646+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.643+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.643+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.643+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.643+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.646+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.646+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.643+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.646+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.643+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.787+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.784+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.586+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.583+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.586+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.577+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.577+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.577+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.577+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.577+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.577+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.577+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.577+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.577+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.574+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.574+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.577+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.574+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-2200A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-2200A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.523+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.523+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.523+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.523+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.523+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.523+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.454+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.520+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.520+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.520+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-2200A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-2200A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.451+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.451+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.406+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-2200A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.283+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.577+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.577+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.787+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.787+1512A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.2086A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.2299A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.2299A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.2299A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.2299A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.2296A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.2296A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.2296A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.2299A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.2299A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.2299A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.2299A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.2299A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.2299A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.2299A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.2299A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.2296A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.2296A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.2296A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.2296A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.2296A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.2296A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.2299A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.2299A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.2299A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.2299A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.2299A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.2299A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.2299A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.2299A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.2299A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.2299A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.2299A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.2296A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.2296A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.2296A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.2296A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.2296A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.2296A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.2296A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.2296A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.2296A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.2296A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.2296A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.2296A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.2299A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.2299A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.2299A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.2299A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.2296A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.2296A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.2290A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.2290A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.2176A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.2173A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.2299A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.2221A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.2221A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.2221A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.2221A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.2221A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.2221A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.2218A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.2218A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.2218A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.2218A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.2221A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.2176A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.2176A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.2176A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.2176A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.2176A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.2176A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.2173A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.2173A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.2173A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.2173A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.2176A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.2176A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.2176A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.2176A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.2176A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.2176A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.2176A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.2176A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.2176A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.2176A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.2299A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.2173A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.2173A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.2173A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.2173A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.2173A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.2173A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.2173A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.2158A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.2158A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.2158A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.2158A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.2158A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.2158A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.2158A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.2158A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.2158A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.2158A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.2158A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.2158A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.2158A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.2158A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.2158A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.2158A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.2158A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.2158A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.2158A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.2158A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.2158A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.2158A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.2155A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.2155A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.2155A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.2155A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.2155A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.2155A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.2155A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.2155A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.2155A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.2155A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.2158A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.2158A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.2158A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.2155A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.2155A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.2155A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.2155A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.2155A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.2155A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.2155A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.2155A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.2155A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.2155A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.2155A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.2158A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.2158A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.2158A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.2086A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.2299A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.2299A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.2299A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.2296A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.2296A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.2098A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.2176A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.2095A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.2095A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.2089A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.2089A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.2089A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.2089A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.2089A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.2089A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.2089A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.2089A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.2086A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.2086A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.2086A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.2086A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.2086A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.2086A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.2089A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.2089A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.2089A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.2089A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.2089A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.2089A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.2089A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.2089A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.2086A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.2086A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.2086A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.2086A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.2176A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.2035A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.2035A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.2035A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.2035A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.2035A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.2035A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.2035A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.2035A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.2035A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.2035A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.2032A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.2032A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.2032A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.2035A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.2032A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.2035A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.2032A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.2176A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.2176A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.2176A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.2173A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.2173A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.2158A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.2155A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.2158A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.2158A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.1966A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.1966A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.1966A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.1966A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.1966A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.1966A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.1966A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.1966A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.1963A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.1963A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.1963A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.1966A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.1963A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.1918A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.1918A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.1915A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.1918A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.2155A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.1795A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.1411A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.1411A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.2299A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.2158A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.2299A>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000108896Sharing Clinical Reports Project (SCRP)
no assertion criteria provided
Uncertain significance
(Nov 2, 2011) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided1not providednot provided1not providedclinical testing

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000108896.2

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

Last Updated: Mar 30, 2024