NM_007294.4(BRCA1):c.2048A>G (p.Lys683Arg) AND Hereditary cancer-predisposing syndrome
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV000509924.9
Allele description [Variation Report for NM_007294.4(BRCA1):c.2048A>G (p.Lys683Arg)]
NM_007294.4(BRCA1):c.2048A>G (p.Lys683Arg)
- 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.2048A>G (p.Lys683Arg)
- HGVS:
- NC_000017.11:g.43093483T>C
- NG_005905.2:g.124501A>G
- NM_001407571.1:c.1835A>G
- NM_001407581.1:c.2048A>G
- NM_001407582.1:c.2048A>G
- NM_001407583.1:c.2048A>G
- NM_001407585.1:c.2048A>G
- NM_001407587.1:c.2045A>G
- NM_001407590.1:c.2045A>G
- NM_001407591.1:c.2045A>G
- NM_001407593.1:c.2048A>G
- NM_001407594.1:c.2048A>G
- NM_001407596.1:c.2048A>G
- NM_001407597.1:c.2048A>G
- NM_001407598.1:c.2048A>G
- NM_001407602.1:c.2048A>G
- NM_001407603.1:c.2048A>G
- NM_001407605.1:c.2048A>G
- NM_001407610.1:c.2045A>G
- NM_001407611.1:c.2045A>G
- NM_001407612.1:c.2045A>G
- NM_001407613.1:c.2045A>G
- NM_001407614.1:c.2045A>G
- NM_001407615.1:c.2045A>G
- NM_001407616.1:c.2048A>G
- NM_001407617.1:c.2048A>G
- NM_001407618.1:c.2048A>G
- NM_001407619.1:c.2048A>G
- NM_001407620.1:c.2048A>G
- NM_001407621.1:c.2048A>G
- NM_001407622.1:c.2048A>G
- NM_001407623.1:c.2048A>G
- NM_001407624.1:c.2048A>G
- NM_001407625.1:c.2048A>G
- NM_001407626.1:c.2048A>G
- NM_001407627.1:c.2045A>G
- NM_001407628.1:c.2045A>G
- NM_001407629.1:c.2045A>G
- NM_001407630.1:c.2045A>G
- NM_001407631.1:c.2045A>G
- NM_001407632.1:c.2045A>G
- NM_001407633.1:c.2045A>G
- NM_001407634.1:c.2045A>G
- NM_001407635.1:c.2045A>G
- NM_001407636.1:c.2045A>G
- NM_001407637.1:c.2045A>G
- NM_001407638.1:c.2045A>G
- NM_001407639.1:c.2048A>G
- NM_001407640.1:c.2048A>G
- NM_001407641.1:c.2048A>G
- NM_001407642.1:c.2048A>G
- NM_001407644.1:c.2045A>G
- NM_001407645.1:c.2045A>G
- NM_001407646.1:c.2039A>G
- NM_001407647.1:c.2039A>G
- NM_001407648.1:c.1925A>G
- NM_001407649.1:c.1922A>G
- NM_001407652.1:c.2048A>G
- NM_001407653.1:c.1970A>G
- NM_001407654.1:c.1970A>G
- NM_001407655.1:c.1970A>G
- NM_001407656.1:c.1970A>G
- NM_001407657.1:c.1970A>G
- NM_001407658.1:c.1970A>G
- NM_001407659.1:c.1967A>G
- NM_001407660.1:c.1967A>G
- NM_001407661.1:c.1967A>G
- NM_001407662.1:c.1967A>G
- NM_001407663.1:c.1970A>G
- NM_001407664.1:c.1925A>G
- NM_001407665.1:c.1925A>G
- NM_001407666.1:c.1925A>G
- NM_001407667.1:c.1925A>G
- NM_001407668.1:c.1925A>G
- NM_001407669.1:c.1925A>G
- NM_001407670.1:c.1922A>G
- NM_001407671.1:c.1922A>G
- NM_001407672.1:c.1922A>G
- NM_001407673.1:c.1922A>G
- NM_001407674.1:c.1925A>G
- NM_001407675.1:c.1925A>G
- NM_001407676.1:c.1925A>G
- NM_001407677.1:c.1925A>G
- NM_001407678.1:c.1925A>G
- NM_001407679.1:c.1925A>G
- NM_001407680.1:c.1925A>G
- NM_001407681.1:c.1925A>G
- NM_001407682.1:c.1925A>G
- NM_001407683.1:c.1925A>G
- NM_001407684.1:c.2048A>G
- NM_001407685.1:c.1922A>G
- NM_001407686.1:c.1922A>G
- NM_001407687.1:c.1922A>G
- NM_001407688.1:c.1922A>G
- NM_001407689.1:c.1922A>G
- NM_001407690.1:c.1922A>G
- NM_001407691.1:c.1922A>G
- NM_001407692.1:c.1907A>G
- NM_001407694.1:c.1907A>G
- NM_001407695.1:c.1907A>G
- NM_001407696.1:c.1907A>G
- NM_001407697.1:c.1907A>G
- NM_001407698.1:c.1907A>G
- NM_001407724.1:c.1907A>G
- NM_001407725.1:c.1907A>G
- NM_001407726.1:c.1907A>G
- NM_001407727.1:c.1907A>G
- NM_001407728.1:c.1907A>G
- NM_001407729.1:c.1907A>G
- NM_001407730.1:c.1907A>G
- NM_001407731.1:c.1907A>G
- NM_001407732.1:c.1907A>G
- NM_001407733.1:c.1907A>G
- NM_001407734.1:c.1907A>G
- NM_001407735.1:c.1907A>G
- NM_001407736.1:c.1907A>G
- NM_001407737.1:c.1907A>G
- NM_001407738.1:c.1907A>G
- NM_001407739.1:c.1907A>G
- NM_001407740.1:c.1904A>G
- NM_001407741.1:c.1904A>G
- NM_001407742.1:c.1904A>G
- NM_001407743.1:c.1904A>G
- NM_001407744.1:c.1904A>G
- NM_001407745.1:c.1904A>G
- NM_001407746.1:c.1904A>G
- NM_001407747.1:c.1904A>G
- NM_001407748.1:c.1904A>G
- NM_001407749.1:c.1904A>G
- NM_001407750.1:c.1907A>G
- NM_001407751.1:c.1907A>G
- NM_001407752.1:c.1907A>G
- NM_001407838.1:c.1904A>G
- NM_001407839.1:c.1904A>G
- NM_001407841.1:c.1904A>G
- NM_001407842.1:c.1904A>G
- NM_001407843.1:c.1904A>G
- NM_001407844.1:c.1904A>G
- NM_001407845.1:c.1904A>G
- NM_001407846.1:c.1904A>G
- NM_001407847.1:c.1904A>G
- NM_001407848.1:c.1904A>G
- NM_001407849.1:c.1904A>G
- NM_001407850.1:c.1907A>G
- NM_001407851.1:c.1907A>G
- NM_001407852.1:c.1907A>G
- NM_001407853.1:c.1835A>G
- NM_001407854.1:c.2048A>G
- NM_001407858.1:c.2048A>G
- NM_001407859.1:c.2048A>G
- NM_001407860.1:c.2045A>G
- NM_001407861.1:c.2045A>G
- NM_001407862.1:c.1847A>G
- NM_001407863.1:c.1925A>G
- NM_001407874.1:c.1844A>G
- NM_001407875.1:c.1844A>G
- NM_001407879.1:c.1838A>G
- NM_001407881.1:c.1838A>G
- NM_001407882.1:c.1838A>G
- NM_001407884.1:c.1838A>G
- NM_001407885.1:c.1838A>G
- NM_001407886.1:c.1838A>G
- NM_001407887.1:c.1838A>G
- NM_001407889.1:c.1838A>G
- NM_001407894.1:c.1835A>G
- NM_001407895.1:c.1835A>G
- NM_001407896.1:c.1835A>G
- NM_001407897.1:c.1835A>G
- NM_001407898.1:c.1835A>G
- NM_001407899.1:c.1835A>G
- NM_001407900.1:c.1838A>G
- NM_001407902.1:c.1838A>G
- NM_001407904.1:c.1838A>G
- NM_001407906.1:c.1838A>G
- NM_001407907.1:c.1838A>G
- NM_001407908.1:c.1838A>G
- NM_001407909.1:c.1838A>G
- NM_001407910.1:c.1838A>G
- NM_001407915.1:c.1835A>G
- NM_001407916.1:c.1835A>G
- NM_001407917.1:c.1835A>G
- NM_001407918.1:c.1835A>G
- NM_001407919.1:c.1925A>G
- NM_001407920.1:c.1784A>G
- NM_001407921.1:c.1784A>G
- NM_001407922.1:c.1784A>G
- NM_001407923.1:c.1784A>G
- NM_001407924.1:c.1784A>G
- NM_001407925.1:c.1784A>G
- NM_001407926.1:c.1784A>G
- NM_001407927.1:c.1784A>G
- NM_001407928.1:c.1784A>G
- NM_001407929.1:c.1784A>G
- NM_001407930.1:c.1781A>G
- NM_001407931.1:c.1781A>G
- NM_001407932.1:c.1781A>G
- NM_001407933.1:c.1784A>G
- NM_001407934.1:c.1781A>G
- NM_001407935.1:c.1784A>G
- NM_001407936.1:c.1781A>G
- NM_001407937.1:c.1925A>G
- NM_001407938.1:c.1925A>G
- NM_001407939.1:c.1925A>G
- NM_001407940.1:c.1922A>G
- NM_001407941.1:c.1922A>G
- NM_001407942.1:c.1907A>G
- NM_001407943.1:c.1904A>G
- NM_001407944.1:c.1907A>G
- NM_001407945.1:c.1907A>G
- NM_001407946.1:c.1715A>G
- NM_001407947.1:c.1715A>G
- NM_001407948.1:c.1715A>G
- NM_001407949.1:c.1715A>G
- NM_001407950.1:c.1715A>G
- NM_001407951.1:c.1715A>G
- NM_001407952.1:c.1715A>G
- NM_001407953.1:c.1715A>G
- NM_001407954.1:c.1712A>G
- NM_001407955.1:c.1712A>G
- NM_001407956.1:c.1712A>G
- NM_001407957.1:c.1715A>G
- NM_001407958.1:c.1712A>G
- NM_001407959.1:c.1667A>G
- NM_001407960.1:c.1667A>G
- NM_001407962.1:c.1664A>G
- NM_001407963.1:c.1667A>G
- NM_001407964.1:c.1904A>G
- NM_001407965.1:c.1544A>G
- NM_001407966.1:c.1160A>G
- NM_001407967.1:c.1160A>G
- NM_001407968.1:c.787+1261A>G
- NM_001407969.1:c.787+1261A>G
- NM_001407970.1:c.787+1261A>G
- NM_001407971.1:c.787+1261A>G
- NM_001407972.1:c.784+1261A>G
- NM_001407973.1:c.787+1261A>G
- NM_001407974.1:c.787+1261A>G
- NM_001407975.1:c.787+1261A>G
- NM_001407976.1:c.787+1261A>G
- NM_001407977.1:c.787+1261A>G
- NM_001407978.1:c.787+1261A>G
- NM_001407979.1:c.787+1261A>G
- NM_001407980.1:c.787+1261A>G
- NM_001407981.1:c.787+1261A>G
- NM_001407982.1:c.787+1261A>G
- NM_001407983.1:c.787+1261A>G
- NM_001407984.1:c.784+1261A>G
- NM_001407985.1:c.784+1261A>G
- NM_001407986.1:c.784+1261A>G
- NM_001407990.1:c.787+1261A>G
- NM_001407991.1:c.784+1261A>G
- NM_001407992.1:c.784+1261A>G
- NM_001407993.1:c.787+1261A>G
- NM_001408392.1:c.784+1261A>G
- NM_001408396.1:c.784+1261A>G
- NM_001408397.1:c.784+1261A>G
- NM_001408398.1:c.784+1261A>G
- NM_001408399.1:c.784+1261A>G
- NM_001408400.1:c.784+1261A>G
- NM_001408401.1:c.784+1261A>G
- NM_001408402.1:c.784+1261A>G
- NM_001408403.1:c.787+1261A>G
- NM_001408404.1:c.787+1261A>G
- NM_001408406.1:c.790+1258A>G
- NM_001408407.1:c.784+1261A>G
- NM_001408408.1:c.778+1261A>G
- NM_001408409.1:c.709+1261A>G
- NM_001408410.1:c.646+1261A>G
- NM_001408411.1:c.709+1261A>G
- NM_001408412.1:c.709+1261A>G
- NM_001408413.1:c.706+1261A>G
- NM_001408414.1:c.709+1261A>G
- NM_001408415.1:c.709+1261A>G
- NM_001408416.1:c.706+1261A>G
- NM_001408418.1:c.670+2363A>G
- NM_001408419.1:c.670+2363A>G
- NM_001408420.1:c.670+2363A>G
- NM_001408421.1:c.667+2363A>G
- NM_001408422.1:c.670+2363A>G
- NM_001408423.1:c.670+2363A>G
- NM_001408424.1:c.667+2363A>G
- NM_001408425.1:c.664+1261A>G
- NM_001408426.1:c.664+1261A>G
- NM_001408427.1:c.664+1261A>G
- NM_001408428.1:c.664+1261A>G
- NM_001408429.1:c.664+1261A>G
- NM_001408430.1:c.664+1261A>G
- NM_001408431.1:c.667+2363A>G
- NM_001408432.1:c.661+1261A>G
- NM_001408433.1:c.661+1261A>G
- NM_001408434.1:c.661+1261A>G
- NM_001408435.1:c.661+1261A>G
- NM_001408436.1:c.664+1261A>G
- NM_001408437.1:c.664+1261A>G
- NM_001408438.1:c.664+1261A>G
- NM_001408439.1:c.664+1261A>G
- NM_001408440.1:c.664+1261A>G
- NM_001408441.1:c.664+1261A>G
- NM_001408442.1:c.664+1261A>G
- NM_001408443.1:c.664+1261A>G
- NM_001408444.1:c.664+1261A>G
- NM_001408445.1:c.661+1261A>G
- NM_001408446.1:c.661+1261A>G
- NM_001408447.1:c.661+1261A>G
- NM_001408448.1:c.661+1261A>G
- NM_001408450.1:c.661+1261A>G
- NM_001408451.1:c.652+1261A>G
- NM_001408452.1:c.646+1261A>G
- NM_001408453.1:c.646+1261A>G
- NM_001408454.1:c.646+1261A>G
- NM_001408455.1:c.646+1261A>G
- NM_001408456.1:c.646+1261A>G
- NM_001408457.1:c.646+1261A>G
- NM_001408458.1:c.646+1261A>G
- NM_001408459.1:c.646+1261A>G
- NM_001408460.1:c.646+1261A>G
- NM_001408461.1:c.646+1261A>G
- NM_001408462.1:c.643+1261A>G
- NM_001408463.1:c.643+1261A>G
- NM_001408464.1:c.643+1261A>G
- NM_001408465.1:c.643+1261A>G
- NM_001408466.1:c.646+1261A>G
- NM_001408467.1:c.646+1261A>G
- NM_001408468.1:c.643+1261A>G
- NM_001408469.1:c.646+1261A>G
- NM_001408470.1:c.643+1261A>G
- NM_001408472.1:c.787+1261A>G
- NM_001408473.1:c.784+1261A>G
- NM_001408474.1:c.586+1261A>G
- NM_001408475.1:c.583+1261A>G
- NM_001408476.1:c.586+1261A>G
- NM_001408478.1:c.577+1261A>G
- NM_001408479.1:c.577+1261A>G
- NM_001408480.1:c.577+1261A>G
- NM_001408481.1:c.577+1261A>G
- NM_001408482.1:c.577+1261A>G
- NM_001408483.1:c.577+1261A>G
- NM_001408484.1:c.577+1261A>G
- NM_001408485.1:c.577+1261A>G
- NM_001408489.1:c.577+1261A>G
- NM_001408490.1:c.574+1261A>G
- NM_001408491.1:c.574+1261A>G
- NM_001408492.1:c.577+1261A>G
- NM_001408493.1:c.574+1261A>G
- NM_001408494.1:c.548-2451A>G
- NM_001408495.1:c.545-2451A>G
- NM_001408496.1:c.523+1261A>G
- NM_001408497.1:c.523+1261A>G
- NM_001408498.1:c.523+1261A>G
- NM_001408499.1:c.523+1261A>G
- NM_001408500.1:c.523+1261A>G
- NM_001408501.1:c.523+1261A>G
- NM_001408502.1:c.454+1261A>G
- NM_001408503.1:c.520+1261A>G
- NM_001408504.1:c.520+1261A>G
- NM_001408505.1:c.520+1261A>G
- NM_001408506.1:c.460+2363A>G
- NM_001408507.1:c.460+2363A>G
- NM_001408508.1:c.451+1261A>G
- NM_001408509.1:c.451+1261A>G
- NM_001408510.1:c.406+1261A>G
- NM_001408511.1:c.404-2451A>G
- NM_001408512.1:c.283+1261A>G
- NM_001408513.1:c.577+1261A>G
- NM_001408514.1:c.577+1261A>G
- NM_007294.4:c.2048A>GMANE SELECT
- NM_007297.4:c.1907A>G
- NM_007298.4:c.787+1261A>G
- NM_007299.4:c.787+1261A>G
- NM_007300.4:c.2048A>G
- NP_001394500.1:p.Lys612Arg
- NP_001394510.1:p.Lys683Arg
- NP_001394511.1:p.Lys683Arg
- NP_001394512.1:p.Lys683Arg
- NP_001394514.1:p.Lys683Arg
- NP_001394516.1:p.Lys682Arg
- NP_001394519.1:p.Lys682Arg
- NP_001394520.1:p.Lys682Arg
- NP_001394522.1:p.Lys683Arg
- NP_001394523.1:p.Lys683Arg
- NP_001394525.1:p.Lys683Arg
- NP_001394526.1:p.Lys683Arg
- NP_001394527.1:p.Lys683Arg
- NP_001394531.1:p.Lys683Arg
- NP_001394532.1:p.Lys683Arg
- NP_001394534.1:p.Lys683Arg
- NP_001394539.1:p.Lys682Arg
- NP_001394540.1:p.Lys682Arg
- NP_001394541.1:p.Lys682Arg
- NP_001394542.1:p.Lys682Arg
- NP_001394543.1:p.Lys682Arg
- NP_001394544.1:p.Lys682Arg
- NP_001394545.1:p.Lys683Arg
- NP_001394546.1:p.Lys683Arg
- NP_001394547.1:p.Lys683Arg
- NP_001394548.1:p.Lys683Arg
- NP_001394549.1:p.Lys683Arg
- NP_001394550.1:p.Lys683Arg
- NP_001394551.1:p.Lys683Arg
- NP_001394552.1:p.Lys683Arg
- NP_001394553.1:p.Lys683Arg
- NP_001394554.1:p.Lys683Arg
- NP_001394555.1:p.Lys683Arg
- NP_001394556.1:p.Lys682Arg
- NP_001394557.1:p.Lys682Arg
- NP_001394558.1:p.Lys682Arg
- NP_001394559.1:p.Lys682Arg
- NP_001394560.1:p.Lys682Arg
- NP_001394561.1:p.Lys682Arg
- NP_001394562.1:p.Lys682Arg
- NP_001394563.1:p.Lys682Arg
- NP_001394564.1:p.Lys682Arg
- NP_001394565.1:p.Lys682Arg
- NP_001394566.1:p.Lys682Arg
- NP_001394567.1:p.Lys682Arg
- NP_001394568.1:p.Lys683Arg
- NP_001394569.1:p.Lys683Arg
- NP_001394570.1:p.Lys683Arg
- NP_001394571.1:p.Lys683Arg
- NP_001394573.1:p.Lys682Arg
- NP_001394574.1:p.Lys682Arg
- NP_001394575.1:p.Lys680Arg
- NP_001394576.1:p.Lys680Arg
- NP_001394577.1:p.Lys642Arg
- NP_001394578.1:p.Lys641Arg
- NP_001394581.1:p.Lys683Arg
- NP_001394582.1:p.Lys657Arg
- NP_001394583.1:p.Lys657Arg
- NP_001394584.1:p.Lys657Arg
- NP_001394585.1:p.Lys657Arg
- NP_001394586.1:p.Lys657Arg
- NP_001394587.1:p.Lys657Arg
- NP_001394588.1:p.Lys656Arg
- NP_001394589.1:p.Lys656Arg
- NP_001394590.1:p.Lys656Arg
- NP_001394591.1:p.Lys656Arg
- NP_001394592.1:p.Lys657Arg
- NP_001394593.1:p.Lys642Arg
- NP_001394594.1:p.Lys642Arg
- NP_001394595.1:p.Lys642Arg
- NP_001394596.1:p.Lys642Arg
- NP_001394597.1:p.Lys642Arg
- NP_001394598.1:p.Lys642Arg
- NP_001394599.1:p.Lys641Arg
- NP_001394600.1:p.Lys641Arg
- NP_001394601.1:p.Lys641Arg
- NP_001394602.1:p.Lys641Arg
- NP_001394603.1:p.Lys642Arg
- NP_001394604.1:p.Lys642Arg
- NP_001394605.1:p.Lys642Arg
- NP_001394606.1:p.Lys642Arg
- NP_001394607.1:p.Lys642Arg
- NP_001394608.1:p.Lys642Arg
- NP_001394609.1:p.Lys642Arg
- NP_001394610.1:p.Lys642Arg
- NP_001394611.1:p.Lys642Arg
- NP_001394612.1:p.Lys642Arg
- NP_001394613.1:p.Lys683Arg
- NP_001394614.1:p.Lys641Arg
- NP_001394615.1:p.Lys641Arg
- NP_001394616.1:p.Lys641Arg
- NP_001394617.1:p.Lys641Arg
- NP_001394618.1:p.Lys641Arg
- NP_001394619.1:p.Lys641Arg
- NP_001394620.1:p.Lys641Arg
- NP_001394621.1:p.Lys636Arg
- NP_001394623.1:p.Lys636Arg
- NP_001394624.1:p.Lys636Arg
- NP_001394625.1:p.Lys636Arg
- NP_001394626.1:p.Lys636Arg
- NP_001394627.1:p.Lys636Arg
- NP_001394653.1:p.Lys636Arg
- NP_001394654.1:p.Lys636Arg
- NP_001394655.1:p.Lys636Arg
- NP_001394656.1:p.Lys636Arg
- NP_001394657.1:p.Lys636Arg
- NP_001394658.1:p.Lys636Arg
- NP_001394659.1:p.Lys636Arg
- NP_001394660.1:p.Lys636Arg
- NP_001394661.1:p.Lys636Arg
- NP_001394662.1:p.Lys636Arg
- NP_001394663.1:p.Lys636Arg
- NP_001394664.1:p.Lys636Arg
- NP_001394665.1:p.Lys636Arg
- NP_001394666.1:p.Lys636Arg
- NP_001394667.1:p.Lys636Arg
- NP_001394668.1:p.Lys636Arg
- NP_001394669.1:p.Lys635Arg
- NP_001394670.1:p.Lys635Arg
- NP_001394671.1:p.Lys635Arg
- NP_001394672.1:p.Lys635Arg
- NP_001394673.1:p.Lys635Arg
- NP_001394674.1:p.Lys635Arg
- NP_001394675.1:p.Lys635Arg
- NP_001394676.1:p.Lys635Arg
- NP_001394677.1:p.Lys635Arg
- NP_001394678.1:p.Lys635Arg
- NP_001394679.1:p.Lys636Arg
- NP_001394680.1:p.Lys636Arg
- NP_001394681.1:p.Lys636Arg
- NP_001394767.1:p.Lys635Arg
- NP_001394768.1:p.Lys635Arg
- NP_001394770.1:p.Lys635Arg
- NP_001394771.1:p.Lys635Arg
- NP_001394772.1:p.Lys635Arg
- NP_001394773.1:p.Lys635Arg
- NP_001394774.1:p.Lys635Arg
- NP_001394775.1:p.Lys635Arg
- NP_001394776.1:p.Lys635Arg
- NP_001394777.1:p.Lys635Arg
- NP_001394778.1:p.Lys635Arg
- NP_001394779.1:p.Lys636Arg
- NP_001394780.1:p.Lys636Arg
- NP_001394781.1:p.Lys636Arg
- NP_001394782.1:p.Lys612Arg
- NP_001394783.1:p.Lys683Arg
- NP_001394787.1:p.Lys683Arg
- NP_001394788.1:p.Lys683Arg
- NP_001394789.1:p.Lys682Arg
- NP_001394790.1:p.Lys682Arg
- NP_001394791.1:p.Lys616Arg
- NP_001394792.1:p.Lys642Arg
- NP_001394803.1:p.Lys615Arg
- NP_001394804.1:p.Lys615Arg
- NP_001394808.1:p.Lys613Arg
- NP_001394810.1:p.Lys613Arg
- NP_001394811.1:p.Lys613Arg
- NP_001394813.1:p.Lys613Arg
- NP_001394814.1:p.Lys613Arg
- NP_001394815.1:p.Lys613Arg
- NP_001394816.1:p.Lys613Arg
- NP_001394818.1:p.Lys613Arg
- NP_001394823.1:p.Lys612Arg
- NP_001394824.1:p.Lys612Arg
- NP_001394825.1:p.Lys612Arg
- NP_001394826.1:p.Lys612Arg
- NP_001394827.1:p.Lys612Arg
- NP_001394828.1:p.Lys612Arg
- NP_001394829.1:p.Lys613Arg
- NP_001394831.1:p.Lys613Arg
- NP_001394833.1:p.Lys613Arg
- NP_001394835.1:p.Lys613Arg
- NP_001394836.1:p.Lys613Arg
- NP_001394837.1:p.Lys613Arg
- NP_001394838.1:p.Lys613Arg
- NP_001394839.1:p.Lys613Arg
- NP_001394844.1:p.Lys612Arg
- NP_001394845.1:p.Lys612Arg
- NP_001394846.1:p.Lys612Arg
- NP_001394847.1:p.Lys612Arg
- NP_001394848.1:p.Lys642Arg
- NP_001394849.1:p.Lys595Arg
- NP_001394850.1:p.Lys595Arg
- NP_001394851.1:p.Lys595Arg
- NP_001394852.1:p.Lys595Arg
- NP_001394853.1:p.Lys595Arg
- NP_001394854.1:p.Lys595Arg
- NP_001394855.1:p.Lys595Arg
- NP_001394856.1:p.Lys595Arg
- NP_001394857.1:p.Lys595Arg
- NP_001394858.1:p.Lys595Arg
- NP_001394859.1:p.Lys594Arg
- NP_001394860.1:p.Lys594Arg
- NP_001394861.1:p.Lys594Arg
- NP_001394862.1:p.Lys595Arg
- NP_001394863.1:p.Lys594Arg
- NP_001394864.1:p.Lys595Arg
- NP_001394865.1:p.Lys594Arg
- NP_001394866.1:p.Lys642Arg
- NP_001394867.1:p.Lys642Arg
- NP_001394868.1:p.Lys642Arg
- NP_001394869.1:p.Lys641Arg
- NP_001394870.1:p.Lys641Arg
- NP_001394871.1:p.Lys636Arg
- NP_001394872.1:p.Lys635Arg
- NP_001394873.1:p.Lys636Arg
- NP_001394874.1:p.Lys636Arg
- NP_001394875.1:p.Lys572Arg
- NP_001394876.1:p.Lys572Arg
- NP_001394877.1:p.Lys572Arg
- NP_001394878.1:p.Lys572Arg
- NP_001394879.1:p.Lys572Arg
- NP_001394880.1:p.Lys572Arg
- NP_001394881.1:p.Lys572Arg
- NP_001394882.1:p.Lys572Arg
- NP_001394883.1:p.Lys571Arg
- NP_001394884.1:p.Lys571Arg
- NP_001394885.1:p.Lys571Arg
- NP_001394886.1:p.Lys572Arg
- NP_001394887.1:p.Lys571Arg
- NP_001394888.1:p.Lys556Arg
- NP_001394889.1:p.Lys556Arg
- NP_001394891.1:p.Lys555Arg
- NP_001394892.1:p.Lys556Arg
- NP_001394893.1:p.Lys635Arg
- NP_001394894.1:p.Lys515Arg
- NP_001394895.1:p.Lys387Arg
- NP_001394896.1:p.Lys387Arg
- NP_009225.1:p.Lys683Arg
- NP_009225.1:p.Lys683Arg
- NP_009228.2:p.Lys636Arg
- NP_009231.2:p.Lys683Arg
- LRG_292t1:c.2048A>G
- LRG_292:g.124501A>G
- LRG_292p1:p.Lys683Arg
- NC_000017.10:g.41245500T>C
- NM_007294.3:c.2048A>G
- NR_027676.1:n.2184A>G
This HGVS expression did not pass validation- Protein change:
- K387R
- Links:
- dbSNP: rs1060502357
- NCBI 1000 Genomes Browser:
- rs1060502357
- Molecular consequence:
- NM_001407968.1:c.787+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407969.1:c.787+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407970.1:c.787+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407971.1:c.787+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407972.1:c.784+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407973.1:c.787+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407974.1:c.787+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407975.1:c.787+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407976.1:c.787+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407977.1:c.787+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407978.1:c.787+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407979.1:c.787+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407980.1:c.787+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407981.1:c.787+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407982.1:c.787+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407983.1:c.787+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407984.1:c.784+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407985.1:c.784+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407986.1:c.784+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407990.1:c.787+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407991.1:c.784+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407992.1:c.784+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407993.1:c.787+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408392.1:c.784+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408396.1:c.784+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408397.1:c.784+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408398.1:c.784+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408399.1:c.784+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408400.1:c.784+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408401.1:c.784+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408402.1:c.784+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408403.1:c.787+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408404.1:c.787+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408406.1:c.790+1258A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408407.1:c.784+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408408.1:c.778+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408409.1:c.709+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408410.1:c.646+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408411.1:c.709+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408412.1:c.709+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408413.1:c.706+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408414.1:c.709+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408415.1:c.709+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408416.1:c.706+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408418.1:c.670+2363A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408419.1:c.670+2363A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408420.1:c.670+2363A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408421.1:c.667+2363A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408422.1:c.670+2363A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408423.1:c.670+2363A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408424.1:c.667+2363A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408425.1:c.664+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408426.1:c.664+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408427.1:c.664+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408428.1:c.664+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408429.1:c.664+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408430.1:c.664+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408431.1:c.667+2363A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408432.1:c.661+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408433.1:c.661+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408434.1:c.661+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408435.1:c.661+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408436.1:c.664+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408437.1:c.664+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408438.1:c.664+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408439.1:c.664+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408440.1:c.664+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408441.1:c.664+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408442.1:c.664+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408443.1:c.664+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408444.1:c.664+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408445.1:c.661+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408446.1:c.661+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408447.1:c.661+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408448.1:c.661+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408450.1:c.661+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408451.1:c.652+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408452.1:c.646+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408453.1:c.646+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408454.1:c.646+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408455.1:c.646+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408456.1:c.646+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408457.1:c.646+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408458.1:c.646+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408459.1:c.646+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408460.1:c.646+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408461.1:c.646+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408462.1:c.643+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408463.1:c.643+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408464.1:c.643+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408465.1:c.643+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408466.1:c.646+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408467.1:c.646+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408468.1:c.643+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408469.1:c.646+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408470.1:c.643+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408472.1:c.787+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408473.1:c.784+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408474.1:c.586+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408475.1:c.583+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408476.1:c.586+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408478.1:c.577+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408479.1:c.577+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408480.1:c.577+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408481.1:c.577+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408482.1:c.577+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408483.1:c.577+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408484.1:c.577+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408485.1:c.577+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408489.1:c.577+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408490.1:c.574+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408491.1:c.574+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408492.1:c.577+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408493.1:c.574+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408494.1:c.548-2451A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408495.1:c.545-2451A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408496.1:c.523+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408497.1:c.523+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408498.1:c.523+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408499.1:c.523+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408500.1:c.523+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408501.1:c.523+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408502.1:c.454+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408503.1:c.520+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408504.1:c.520+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408505.1:c.520+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408506.1:c.460+2363A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408507.1:c.460+2363A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408508.1:c.451+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408509.1:c.451+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408510.1:c.406+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408511.1:c.404-2451A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408512.1:c.283+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408513.1:c.577+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408514.1:c.577+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_007298.4:c.787+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_007299.4:c.787+1261A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407571.1:c.1835A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407581.1:c.2048A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407582.1:c.2048A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407583.1:c.2048A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407585.1:c.2048A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407587.1:c.2045A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407590.1:c.2045A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407591.1:c.2045A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407593.1:c.2048A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407594.1:c.2048A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407596.1:c.2048A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407597.1:c.2048A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407598.1:c.2048A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407602.1:c.2048A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407603.1:c.2048A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407605.1:c.2048A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407610.1:c.2045A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407611.1:c.2045A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407612.1:c.2045A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407613.1:c.2045A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407614.1:c.2045A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407615.1:c.2045A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407616.1:c.2048A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407617.1:c.2048A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407618.1:c.2048A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407619.1:c.2048A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407620.1:c.2048A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407621.1:c.2048A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407622.1:c.2048A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407623.1:c.2048A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407624.1:c.2048A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407625.1:c.2048A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407626.1:c.2048A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407627.1:c.2045A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407628.1:c.2045A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407629.1:c.2045A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407630.1:c.2045A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407631.1:c.2045A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407632.1:c.2045A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407633.1:c.2045A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407634.1:c.2045A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407635.1:c.2045A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407636.1:c.2045A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407637.1:c.2045A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407638.1:c.2045A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407639.1:c.2048A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407640.1:c.2048A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407641.1:c.2048A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407642.1:c.2048A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407644.1:c.2045A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407645.1:c.2045A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407646.1:c.2039A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407647.1:c.2039A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407648.1:c.1925A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407649.1:c.1922A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407652.1:c.2048A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407653.1:c.1970A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407654.1:c.1970A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407655.1:c.1970A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407656.1:c.1970A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407657.1:c.1970A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407658.1:c.1970A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407659.1:c.1967A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407660.1:c.1967A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407661.1:c.1967A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407662.1:c.1967A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407663.1:c.1970A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407664.1:c.1925A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407665.1:c.1925A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407666.1:c.1925A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407667.1:c.1925A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407668.1:c.1925A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407669.1:c.1925A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407670.1:c.1922A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407671.1:c.1922A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407672.1:c.1922A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407673.1:c.1922A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407674.1:c.1925A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407675.1:c.1925A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407676.1:c.1925A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407677.1:c.1925A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407678.1:c.1925A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407679.1:c.1925A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407680.1:c.1925A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407681.1:c.1925A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407682.1:c.1925A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407683.1:c.1925A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407684.1:c.2048A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407685.1:c.1922A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407686.1:c.1922A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407687.1:c.1922A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407688.1:c.1922A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407689.1:c.1922A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407690.1:c.1922A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407691.1:c.1922A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407692.1:c.1907A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407694.1:c.1907A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407695.1:c.1907A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407696.1:c.1907A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407697.1:c.1907A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407698.1:c.1907A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407724.1:c.1907A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407725.1:c.1907A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407726.1:c.1907A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407727.1:c.1907A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407728.1:c.1907A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407729.1:c.1907A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407730.1:c.1907A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407731.1:c.1907A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407732.1:c.1907A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407733.1:c.1907A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407734.1:c.1907A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407735.1:c.1907A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407736.1:c.1907A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407737.1:c.1907A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407738.1:c.1907A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407739.1:c.1907A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407740.1:c.1904A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407741.1:c.1904A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407742.1:c.1904A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407743.1:c.1904A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407744.1:c.1904A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407745.1:c.1904A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407746.1:c.1904A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407747.1:c.1904A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407748.1:c.1904A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407749.1:c.1904A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407750.1:c.1907A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407751.1:c.1907A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407752.1:c.1907A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407838.1:c.1904A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407839.1:c.1904A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407841.1:c.1904A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407842.1:c.1904A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407843.1:c.1904A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407844.1:c.1904A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407845.1:c.1904A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407846.1:c.1904A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407847.1:c.1904A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407848.1:c.1904A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407849.1:c.1904A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407850.1:c.1907A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407851.1:c.1907A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407852.1:c.1907A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407853.1:c.1835A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407854.1:c.2048A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407858.1:c.2048A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407859.1:c.2048A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407860.1:c.2045A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407861.1:c.2045A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407862.1:c.1847A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407863.1:c.1925A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407874.1:c.1844A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407875.1:c.1844A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407879.1:c.1838A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407881.1:c.1838A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407882.1:c.1838A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407884.1:c.1838A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407885.1:c.1838A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407886.1:c.1838A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407887.1:c.1838A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407889.1:c.1838A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407894.1:c.1835A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407895.1:c.1835A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407896.1:c.1835A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407897.1:c.1835A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407898.1:c.1835A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407899.1:c.1835A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407900.1:c.1838A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407902.1:c.1838A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407904.1:c.1838A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407906.1:c.1838A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407907.1:c.1838A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407908.1:c.1838A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407909.1:c.1838A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407910.1:c.1838A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407915.1:c.1835A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407916.1:c.1835A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407917.1:c.1835A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407918.1:c.1835A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407919.1:c.1925A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407920.1:c.1784A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407921.1:c.1784A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407922.1:c.1784A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407923.1:c.1784A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407924.1:c.1784A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407925.1:c.1784A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407926.1:c.1784A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407927.1:c.1784A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407928.1:c.1784A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407929.1:c.1784A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407930.1:c.1781A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407931.1:c.1781A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407932.1:c.1781A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407933.1:c.1784A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407934.1:c.1781A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407935.1:c.1784A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407936.1:c.1781A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407937.1:c.1925A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407938.1:c.1925A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407939.1:c.1925A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407940.1:c.1922A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407941.1:c.1922A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407942.1:c.1907A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407943.1:c.1904A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407944.1:c.1907A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407945.1:c.1907A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407946.1:c.1715A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407947.1:c.1715A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407948.1:c.1715A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407949.1:c.1715A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407950.1:c.1715A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407951.1:c.1715A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407952.1:c.1715A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407953.1:c.1715A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407954.1:c.1712A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407955.1:c.1712A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407956.1:c.1712A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407957.1:c.1715A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407958.1:c.1712A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407959.1:c.1667A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407960.1:c.1667A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407962.1:c.1664A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407963.1:c.1667A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407964.1:c.1904A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407965.1:c.1544A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407966.1:c.1160A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407967.1:c.1160A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007294.4:c.2048A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007297.4:c.1907A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007300.4:c.2048A>G - missense variant - [Sequence Ontology: SO:0001583]
Condition(s)
- Name:
- Hereditary cancer-predisposing syndrome
- Synonyms:
- Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672
-
PRJEB19855 (201)
SRA
-
Modified sequence capture for standard and methylation analyses of the same samp...
Modified sequence capture for standard and methylation analyses of the same sampleA modified sequence capture approach allowing standard and methylation analyses of the same enriched genomic DNA sampleBioProject
-
Coordinated local overexpression of complement induced by interferon gamma in my...
Coordinated local overexpression of complement induced by interferon gamma in myositisCoordinated local overexpression of complement induced by interferon gamma in myositisBioProject
-
OR5B3 (50)
Nucleotide
-
Scientific summary - Adding emollient bath additives to standard eczema manageme...
Scientific summary - Adding emollient bath additives to standard eczema management for children with eczema: the BATHE RCT
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See more...Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000608099 | Ambry Genetics | criteria provided, single submitter (Ambry Variant Classification Scheme 2023) | Uncertain significance (Sep 8, 2020) | germline | clinical testing | |
SCV002538086 | Sema4, Sema4 | criteria provided, single submitter (Sema4 Curation Guidelines) | Uncertain significance (May 28, 2021) | germline | curation | |
SCV003849544 | University of Washington Department of Laboratory Medicine, University of Washington | criteria provided, single submitter (Dines et al. (Genet Med. 2020)) | Likely benign (Mar 23, 2023) | germline | curation |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | germline | unknown | not provided | not provided | not provided | not provided | not provided | clinical testing, curation |
Citations
PubMed
Tung N, Battelli C, Allen B, Kaldate R, Bhatnagar S, Bowles K, Timms K, Garber JE, Herold C, Ellisen L, Krejdovsky J, DeLeonardis K, Sedgwick K, Soltis K, Roa B, Wenstrup RJ, Hartman AR.
Cancer. 2015 Jan 1;121(1):25-33. doi: 10.1002/cncr.29010. Epub 2014 Sep 3.
- PMID:
- 25186627
Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women.
Breast Cancer Association Consortium., Dorling L, Carvalho S, Allen J, González-Neira A, Luccarini C, Wahlström C, Pooley KA, Parsons MT, Fortuno C, Wang Q, Bolla MK, Dennis J, Keeman R, Alonso MR, Álvarez N, Herraez B, Fernandez V, Núñez-Torres R, Osorio A, Valcich J, Li M, et al.
N Engl J Med. 2021 Feb 4;384(5):428-439. doi: 10.1056/NEJMoa1913948. Epub 2021 Jan 20.
- PMID:
- 33471991
- PMCID:
- PMC7611105
Details of each submission
From Ambry Genetics, SCV000608099.5
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
Description
The p.K683R variant (also known as c.2048A>G), located in coding exon 9 of the BRCA1 gene, results from an A to G substitution at nucleotide position 2048. The lysine at codon 683 is replaced by arginine, an amino acid with highly similar properties. This alteration was also detected on a 25-gene panel test in a woman of mixed ancestry who was diagnosed with breast cancer before age 50 (Tung N et al. Cancer, 2015 Jan;121:25-33). This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From Sema4, Sema4, SCV002538086.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | curation | PubMed (2) |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From University of Washington Department of Laboratory Medicine, University of Washington, SCV003849544.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | curation | PubMed (1) |
Description
Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
Last Updated: Oct 8, 2024