NM_007294.4(BRCA1):c.4426A>G (p.Lys1476Glu) AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 27, 2020
- Review status:
- 1 star out of maximum of 4 starscriteria provided, single submitter
- 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:
- RCV001180247.5
Allele description [Variation Report for NM_007294.4(BRCA1):c.4426A>G (p.Lys1476Glu)]
NM_007294.4(BRCA1):c.4426A>G (p.Lys1476Glu)
- 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.4426A>G (p.Lys1476Glu)
- HGVS:
- NC_000017.11:g.43076546T>C
- NG_005905.2:g.141438A>G
- NM_001407571.1:c.4213A>G
- NM_001407581.1:c.4492A>G
- NM_001407582.1:c.4492A>G
- NM_001407583.1:c.4489A>G
- NM_001407585.1:c.4489A>G
- NM_001407587.1:c.4489A>G
- NM_001407590.1:c.4486A>G
- NM_001407591.1:c.4486A>G
- NM_001407593.1:c.4426A>G
- NM_001407594.1:c.4426A>G
- NM_001407596.1:c.4426A>G
- NM_001407597.1:c.4426A>G
- NM_001407598.1:c.4426A>G
- NM_001407602.1:c.4426A>G
- NM_001407603.1:c.4426A>G
- NM_001407605.1:c.4426A>G
- NM_001407610.1:c.4423A>G
- NM_001407611.1:c.4423A>G
- NM_001407612.1:c.4423A>G
- NM_001407613.1:c.4423A>G
- NM_001407614.1:c.4423A>G
- NM_001407615.1:c.4423A>G
- NM_001407616.1:c.4423A>G
- NM_001407617.1:c.4423A>G
- NM_001407618.1:c.4423A>G
- NM_001407619.1:c.4423A>G
- NM_001407620.1:c.4423A>G
- NM_001407621.1:c.4423A>G
- NM_001407622.1:c.4423A>G
- NM_001407623.1:c.4423A>G
- NM_001407624.1:c.4423A>G
- NM_001407625.1:c.4423A>G
- NM_001407626.1:c.4423A>G
- NM_001407627.1:c.4420A>G
- NM_001407628.1:c.4420A>G
- NM_001407629.1:c.4420A>G
- NM_001407630.1:c.4420A>G
- NM_001407631.1:c.4420A>G
- NM_001407632.1:c.4420A>G
- NM_001407633.1:c.4420A>G
- NM_001407634.1:c.4420A>G
- NM_001407635.1:c.4420A>G
- NM_001407636.1:c.4420A>G
- NM_001407637.1:c.4420A>G
- NM_001407638.1:c.4420A>G
- NM_001407639.1:c.4420A>G
- NM_001407640.1:c.4420A>G
- NM_001407641.1:c.4420A>G
- NM_001407642.1:c.4420A>G
- NM_001407644.1:c.4417A>G
- NM_001407645.1:c.4417A>G
- NM_001407646.1:c.4414A>G
- NM_001407647.1:c.4411A>G
- NM_001407648.1:c.4369A>G
- NM_001407649.1:c.4366A>G
- NM_001407652.1:c.4426A>G
- NM_001407653.1:c.4348A>G
- NM_001407654.1:c.4348A>G
- NM_001407655.1:c.4348A>G
- NM_001407656.1:c.4345A>G
- NM_001407657.1:c.4345A>G
- NM_001407658.1:c.4345A>G
- NM_001407659.1:c.4342A>G
- NM_001407660.1:c.4342A>G
- NM_001407661.1:c.4342A>G
- NM_001407662.1:c.4342A>G
- NM_001407663.1:c.4342A>G
- NM_001407664.1:c.4303A>G
- NM_001407665.1:c.4303A>G
- NM_001407666.1:c.4303A>G
- NM_001407667.1:c.4303A>G
- NM_001407668.1:c.4303A>G
- NM_001407669.1:c.4303A>G
- NM_001407670.1:c.4300A>G
- NM_001407671.1:c.4300A>G
- NM_001407672.1:c.4300A>G
- NM_001407673.1:c.4300A>G
- NM_001407674.1:c.4300A>G
- NM_001407675.1:c.4300A>G
- NM_001407676.1:c.4300A>G
- NM_001407677.1:c.4300A>G
- NM_001407678.1:c.4300A>G
- NM_001407679.1:c.4300A>G
- NM_001407680.1:c.4300A>G
- NM_001407681.1:c.4297A>G
- NM_001407682.1:c.4297A>G
- NM_001407683.1:c.4297A>G
- NM_001407684.1:c.4426A>G
- NM_001407685.1:c.4297A>G
- NM_001407686.1:c.4297A>G
- NM_001407687.1:c.4297A>G
- NM_001407688.1:c.4297A>G
- NM_001407689.1:c.4297A>G
- NM_001407690.1:c.4294A>G
- NM_001407691.1:c.4294A>G
- NM_001407692.1:c.4285A>G
- NM_001407694.1:c.4285A>G
- NM_001407695.1:c.4285A>G
- NM_001407696.1:c.4285A>G
- NM_001407697.1:c.4285A>G
- NM_001407698.1:c.4285A>G
- NM_001407724.1:c.4285A>G
- NM_001407725.1:c.4285A>G
- NM_001407726.1:c.4285A>G
- NM_001407727.1:c.4285A>G
- NM_001407728.1:c.4285A>G
- NM_001407729.1:c.4285A>G
- NM_001407730.1:c.4285A>G
- NM_001407731.1:c.4285A>G
- NM_001407732.1:c.4282A>G
- NM_001407733.1:c.4282A>G
- NM_001407734.1:c.4282A>G
- NM_001407735.1:c.4282A>G
- NM_001407736.1:c.4282A>G
- NM_001407737.1:c.4282A>G
- NM_001407738.1:c.4282A>G
- NM_001407739.1:c.4282A>G
- NM_001407740.1:c.4282A>G
- NM_001407741.1:c.4282A>G
- NM_001407742.1:c.4282A>G
- NM_001407743.1:c.4282A>G
- NM_001407744.1:c.4282A>G
- NM_001407745.1:c.4282A>G
- NM_001407746.1:c.4282A>G
- NM_001407747.1:c.4282A>G
- NM_001407748.1:c.4282A>G
- NM_001407749.1:c.4282A>G
- NM_001407750.1:c.4282A>G
- NM_001407751.1:c.4282A>G
- NM_001407752.1:c.4282A>G
- NM_001407838.1:c.4279A>G
- NM_001407839.1:c.4279A>G
- NM_001407841.1:c.4279A>G
- NM_001407842.1:c.4279A>G
- NM_001407843.1:c.4279A>G
- NM_001407844.1:c.4279A>G
- NM_001407845.1:c.4279A>G
- NM_001407846.1:c.4279A>G
- NM_001407847.1:c.4279A>G
- NM_001407848.1:c.4279A>G
- NM_001407849.1:c.4279A>G
- NM_001407850.1:c.4279A>G
- NM_001407851.1:c.4279A>G
- NM_001407852.1:c.4279A>G
- NM_001407853.1:c.4279A>G
- NM_001407854.1:c.4426A>G
- NM_001407858.1:c.4423A>G
- NM_001407859.1:c.4423A>G
- NM_001407860.1:c.4423A>G
- NM_001407861.1:c.4420A>G
- NM_001407862.1:c.4225A>G
- NM_001407863.1:c.4300A>G
- NM_001407874.1:c.4219A>G
- NM_001407875.1:c.4219A>G
- NM_001407879.1:c.4216A>G
- NM_001407881.1:c.4216A>G
- NM_001407882.1:c.4216A>G
- NM_001407884.1:c.4216A>G
- NM_001407885.1:c.4216A>G
- NM_001407886.1:c.4216A>G
- NM_001407887.1:c.4216A>G
- NM_001407889.1:c.4216A>G
- NM_001407894.1:c.4213A>G
- NM_001407895.1:c.4213A>G
- NM_001407896.1:c.4213A>G
- NM_001407897.1:c.4213A>G
- NM_001407898.1:c.4213A>G
- NM_001407899.1:c.4213A>G
- NM_001407900.1:c.4213A>G
- NM_001407902.1:c.4213A>G
- NM_001407904.1:c.4213A>G
- NM_001407906.1:c.4213A>G
- NM_001407907.1:c.4213A>G
- NM_001407908.1:c.4213A>G
- NM_001407909.1:c.4213A>G
- NM_001407910.1:c.4213A>G
- NM_001407915.1:c.4210A>G
- NM_001407916.1:c.4210A>G
- NM_001407917.1:c.4210A>G
- NM_001407918.1:c.4210A>G
- NM_001407919.1:c.4303A>G
- NM_001407920.1:c.4162A>G
- NM_001407921.1:c.4162A>G
- NM_001407922.1:c.4162A>G
- NM_001407923.1:c.4162A>G
- NM_001407924.1:c.4162A>G
- NM_001407925.1:c.4162A>G
- NM_001407926.1:c.4162A>G
- NM_001407927.1:c.4159A>G
- NM_001407928.1:c.4159A>G
- NM_001407929.1:c.4159A>G
- NM_001407930.1:c.4159A>G
- NM_001407931.1:c.4159A>G
- NM_001407932.1:c.4159A>G
- NM_001407933.1:c.4159A>G
- NM_001407934.1:c.4156A>G
- NM_001407935.1:c.4156A>G
- NM_001407936.1:c.4156A>G
- NM_001407937.1:c.4303A>G
- NM_001407938.1:c.4303A>G
- NM_001407939.1:c.4300A>G
- NM_001407940.1:c.4300A>G
- NM_001407941.1:c.4297A>G
- NM_001407942.1:c.4285A>G
- NM_001407943.1:c.4282A>G
- NM_001407944.1:c.4282A>G
- NM_001407945.1:c.4282A>G
- NM_001407946.1:c.4093A>G
- NM_001407947.1:c.4093A>G
- NM_001407948.1:c.4093A>G
- NM_001407949.1:c.4093A>G
- NM_001407950.1:c.4090A>G
- NM_001407951.1:c.4090A>G
- NM_001407952.1:c.4090A>G
- NM_001407953.1:c.4090A>G
- NM_001407954.1:c.4090A>G
- NM_001407955.1:c.4090A>G
- NM_001407956.1:c.4087A>G
- NM_001407957.1:c.4087A>G
- NM_001407958.1:c.4087A>G
- NM_001407959.1:c.4045A>G
- NM_001407960.1:c.4042A>G
- NM_001407962.1:c.4042A>G
- NM_001407963.1:c.4039A>G
- NM_001407965.1:c.3919A>G
- NM_001407966.1:c.3538A>G
- NM_001407967.1:c.3535A>G
- NM_001407968.1:c.1822A>G
- NM_001407969.1:c.1819A>G
- NM_001407970.1:c.1183A>G
- NM_001407971.1:c.1183A>G
- NM_001407972.1:c.1180A>G
- NM_001407973.1:c.1117A>G
- NM_001407974.1:c.1117A>G
- NM_001407975.1:c.1117A>G
- NM_001407976.1:c.1117A>G
- NM_001407977.1:c.1117A>G
- NM_001407978.1:c.1117A>G
- NM_001407979.1:c.1114A>G
- NM_001407980.1:c.1114A>G
- NM_001407981.1:c.1114A>G
- NM_001407982.1:c.1114A>G
- NM_001407983.1:c.1114A>G
- NM_001407984.1:c.1114A>G
- NM_001407985.1:c.1114A>G
- NM_001407986.1:c.1114A>G
- NM_001407990.1:c.1114A>G
- NM_001407991.1:c.1114A>G
- NM_001407992.1:c.1114A>G
- NM_001407993.1:c.1114A>G
- NM_001408392.1:c.1111A>G
- NM_001408396.1:c.1111A>G
- NM_001408397.1:c.1111A>G
- NM_001408398.1:c.1111A>G
- NM_001408399.1:c.1111A>G
- NM_001408400.1:c.1111A>G
- NM_001408401.1:c.1111A>G
- NM_001408402.1:c.1111A>G
- NM_001408403.1:c.1111A>G
- NM_001408404.1:c.1111A>G
- NM_001408406.1:c.1108A>G
- NM_001408407.1:c.1108A>G
- NM_001408408.1:c.1108A>G
- NM_001408409.1:c.1105A>G
- NM_001408410.1:c.1042A>G
- NM_001408411.1:c.1039A>G
- NM_001408412.1:c.1036A>G
- NM_001408413.1:c.1036A>G
- NM_001408414.1:c.1036A>G
- NM_001408415.1:c.1036A>G
- NM_001408416.1:c.1036A>G
- NM_001408418.1:c.1000A>G
- NM_001408419.1:c.1000A>G
- NM_001408420.1:c.1000A>G
- NM_001408421.1:c.997A>G
- NM_001408422.1:c.997A>G
- NM_001408423.1:c.997A>G
- NM_001408424.1:c.997A>G
- NM_001408425.1:c.994A>G
- NM_001408426.1:c.994A>G
- NM_001408427.1:c.994A>G
- NM_001408428.1:c.994A>G
- NM_001408429.1:c.994A>G
- NM_001408430.1:c.994A>G
- NM_001408431.1:c.994A>G
- NM_001408432.1:c.991A>G
- NM_001408433.1:c.991A>G
- NM_001408434.1:c.991A>G
- NM_001408435.1:c.991A>G
- NM_001408436.1:c.991A>G
- NM_001408437.1:c.991A>G
- NM_001408438.1:c.991A>G
- NM_001408439.1:c.991A>G
- NM_001408440.1:c.991A>G
- NM_001408441.1:c.991A>G
- NM_001408442.1:c.991A>G
- NM_001408443.1:c.991A>G
- NM_001408444.1:c.991A>G
- NM_001408445.1:c.988A>G
- NM_001408446.1:c.988A>G
- NM_001408447.1:c.988A>G
- NM_001408448.1:c.988A>G
- NM_001408450.1:c.988A>G
- NM_001408451.1:c.982A>G
- NM_001408452.1:c.976A>G
- NM_001408453.1:c.976A>G
- NM_001408454.1:c.976A>G
- NM_001408455.1:c.976A>G
- NM_001408456.1:c.976A>G
- NM_001408457.1:c.976A>G
- NM_001408458.1:c.973A>G
- NM_001408459.1:c.973A>G
- NM_001408460.1:c.973A>G
- NM_001408461.1:c.973A>G
- NM_001408462.1:c.973A>G
- NM_001408463.1:c.973A>G
- NM_001408464.1:c.973A>G
- NM_001408465.1:c.973A>G
- NM_001408466.1:c.973A>G
- NM_001408467.1:c.973A>G
- NM_001408468.1:c.970A>G
- NM_001408469.1:c.970A>G
- NM_001408470.1:c.970A>G
- NM_001408472.1:c.1114A>G
- NM_001408473.1:c.1111A>G
- NM_001408474.1:c.916A>G
- NM_001408475.1:c.913A>G
- NM_001408476.1:c.913A>G
- NM_001408478.1:c.907A>G
- NM_001408479.1:c.907A>G
- NM_001408480.1:c.907A>G
- NM_001408481.1:c.904A>G
- NM_001408482.1:c.904A>G
- NM_001408483.1:c.904A>G
- NM_001408484.1:c.904A>G
- NM_001408485.1:c.904A>G
- NM_001408489.1:c.904A>G
- NM_001408490.1:c.904A>G
- NM_001408491.1:c.904A>G
- NM_001408492.1:c.901A>G
- NM_001408493.1:c.901A>G
- NM_001408494.1:c.877A>G
- NM_001408495.1:c.871A>G
- NM_001408496.1:c.853A>G
- NM_001408497.1:c.853A>G
- NM_001408498.1:c.853A>G
- NM_001408499.1:c.853A>G
- NM_001408500.1:c.853A>G
- NM_001408501.1:c.853A>G
- NM_001408502.1:c.850A>G
- NM_001408503.1:c.850A>G
- NM_001408504.1:c.850A>G
- NM_001408505.1:c.847A>G
- NM_001408506.1:c.790A>G
- NM_001408507.1:c.787A>G
- NM_001408508.1:c.778A>G
- NM_001408509.1:c.775A>G
- NM_001408510.1:c.736A>G
- NM_001408511.1:c.733A>G
- NM_001408512.1:c.613A>G
- NM_007294.4:c.4426A>GMANE SELECT
- NM_007297.4:c.4285A>G
- NM_007298.4:c.1114A>G
- NM_007299.4:c.1114A>G
- NM_007300.4:c.4489A>G
- NM_007304.2:c.1114A>G
- NP_001394500.1:p.Lys1405Glu
- NP_001394510.1:p.Lys1498Glu
- NP_001394511.1:p.Lys1498Glu
- NP_001394512.1:p.Lys1497Glu
- NP_001394514.1:p.Lys1497Glu
- NP_001394516.1:p.Lys1497Glu
- NP_001394519.1:p.Lys1496Glu
- NP_001394520.1:p.Lys1496Glu
- NP_001394522.1:p.Lys1476Glu
- NP_001394523.1:p.Lys1476Glu
- NP_001394525.1:p.Lys1476Glu
- NP_001394526.1:p.Lys1476Glu
- NP_001394527.1:p.Lys1476Glu
- NP_001394531.1:p.Lys1476Glu
- NP_001394532.1:p.Lys1476Glu
- NP_001394534.1:p.Lys1476Glu
- NP_001394539.1:p.Lys1475Glu
- NP_001394540.1:p.Lys1475Glu
- NP_001394541.1:p.Lys1475Glu
- NP_001394542.1:p.Lys1475Glu
- NP_001394543.1:p.Lys1475Glu
- NP_001394544.1:p.Lys1475Glu
- NP_001394545.1:p.Lys1475Glu
- NP_001394546.1:p.Lys1475Glu
- NP_001394547.1:p.Lys1475Glu
- NP_001394548.1:p.Lys1475Glu
- NP_001394549.1:p.Lys1475Glu
- NP_001394550.1:p.Lys1475Glu
- NP_001394551.1:p.Lys1475Glu
- NP_001394552.1:p.Lys1475Glu
- NP_001394553.1:p.Lys1475Glu
- NP_001394554.1:p.Lys1475Glu
- NP_001394555.1:p.Lys1475Glu
- NP_001394556.1:p.Lys1474Glu
- NP_001394557.1:p.Lys1474Glu
- NP_001394558.1:p.Lys1474Glu
- NP_001394559.1:p.Lys1474Glu
- NP_001394560.1:p.Lys1474Glu
- NP_001394561.1:p.Lys1474Glu
- NP_001394562.1:p.Lys1474Glu
- NP_001394563.1:p.Lys1474Glu
- NP_001394564.1:p.Lys1474Glu
- NP_001394565.1:p.Lys1474Glu
- NP_001394566.1:p.Lys1474Glu
- NP_001394567.1:p.Lys1474Glu
- NP_001394568.1:p.Lys1474Glu
- NP_001394569.1:p.Lys1474Glu
- NP_001394570.1:p.Lys1474Glu
- NP_001394571.1:p.Lys1474Glu
- NP_001394573.1:p.Lys1473Glu
- NP_001394574.1:p.Lys1473Glu
- NP_001394575.1:p.Lys1472Glu
- NP_001394576.1:p.Lys1471Glu
- NP_001394577.1:p.Lys1457Glu
- NP_001394578.1:p.Lys1456Glu
- NP_001394581.1:p.Lys1476Glu
- NP_001394582.1:p.Lys1450Glu
- NP_001394583.1:p.Lys1450Glu
- NP_001394584.1:p.Lys1450Glu
- NP_001394585.1:p.Lys1449Glu
- NP_001394586.1:p.Lys1449Glu
- NP_001394587.1:p.Lys1449Glu
- NP_001394588.1:p.Lys1448Glu
- NP_001394589.1:p.Lys1448Glu
- NP_001394590.1:p.Lys1448Glu
- NP_001394591.1:p.Lys1448Glu
- NP_001394592.1:p.Lys1448Glu
- NP_001394593.1:p.Lys1435Glu
- NP_001394594.1:p.Lys1435Glu
- NP_001394595.1:p.Lys1435Glu
- NP_001394596.1:p.Lys1435Glu
- NP_001394597.1:p.Lys1435Glu
- NP_001394598.1:p.Lys1435Glu
- NP_001394599.1:p.Lys1434Glu
- NP_001394600.1:p.Lys1434Glu
- NP_001394601.1:p.Lys1434Glu
- NP_001394602.1:p.Lys1434Glu
- NP_001394603.1:p.Lys1434Glu
- NP_001394604.1:p.Lys1434Glu
- NP_001394605.1:p.Lys1434Glu
- NP_001394606.1:p.Lys1434Glu
- NP_001394607.1:p.Lys1434Glu
- NP_001394608.1:p.Lys1434Glu
- NP_001394609.1:p.Lys1434Glu
- NP_001394610.1:p.Lys1433Glu
- NP_001394611.1:p.Lys1433Glu
- NP_001394612.1:p.Lys1433Glu
- NP_001394613.1:p.Lys1476Glu
- NP_001394614.1:p.Lys1433Glu
- NP_001394615.1:p.Lys1433Glu
- NP_001394616.1:p.Lys1433Glu
- NP_001394617.1:p.Lys1433Glu
- NP_001394618.1:p.Lys1433Glu
- NP_001394619.1:p.Lys1432Glu
- NP_001394620.1:p.Lys1432Glu
- NP_001394621.1:p.Lys1429Glu
- NP_001394623.1:p.Lys1429Glu
- NP_001394624.1:p.Lys1429Glu
- NP_001394625.1:p.Lys1429Glu
- NP_001394626.1:p.Lys1429Glu
- NP_001394627.1:p.Lys1429Glu
- NP_001394653.1:p.Lys1429Glu
- NP_001394654.1:p.Lys1429Glu
- NP_001394655.1:p.Lys1429Glu
- NP_001394656.1:p.Lys1429Glu
- NP_001394657.1:p.Lys1429Glu
- NP_001394658.1:p.Lys1429Glu
- NP_001394659.1:p.Lys1429Glu
- NP_001394660.1:p.Lys1429Glu
- NP_001394661.1:p.Lys1428Glu
- NP_001394662.1:p.Lys1428Glu
- NP_001394663.1:p.Lys1428Glu
- NP_001394664.1:p.Lys1428Glu
- NP_001394665.1:p.Lys1428Glu
- NP_001394666.1:p.Lys1428Glu
- NP_001394667.1:p.Lys1428Glu
- NP_001394668.1:p.Lys1428Glu
- NP_001394669.1:p.Lys1428Glu
- NP_001394670.1:p.Lys1428Glu
- NP_001394671.1:p.Lys1428Glu
- NP_001394672.1:p.Lys1428Glu
- NP_001394673.1:p.Lys1428Glu
- NP_001394674.1:p.Lys1428Glu
- NP_001394675.1:p.Lys1428Glu
- NP_001394676.1:p.Lys1428Glu
- NP_001394677.1:p.Lys1428Glu
- NP_001394678.1:p.Lys1428Glu
- NP_001394679.1:p.Lys1428Glu
- NP_001394680.1:p.Lys1428Glu
- NP_001394681.1:p.Lys1428Glu
- NP_001394767.1:p.Lys1427Glu
- NP_001394768.1:p.Lys1427Glu
- NP_001394770.1:p.Lys1427Glu
- NP_001394771.1:p.Lys1427Glu
- NP_001394772.1:p.Lys1427Glu
- NP_001394773.1:p.Lys1427Glu
- NP_001394774.1:p.Lys1427Glu
- NP_001394775.1:p.Lys1427Glu
- NP_001394776.1:p.Lys1427Glu
- NP_001394777.1:p.Lys1427Glu
- NP_001394778.1:p.Lys1427Glu
- NP_001394779.1:p.Lys1427Glu
- NP_001394780.1:p.Lys1427Glu
- NP_001394781.1:p.Lys1427Glu
- NP_001394782.1:p.Lys1427Glu
- NP_001394783.1:p.Lys1476Glu
- NP_001394787.1:p.Lys1475Glu
- NP_001394788.1:p.Lys1475Glu
- NP_001394789.1:p.Lys1475Glu
- NP_001394790.1:p.Lys1474Glu
- NP_001394791.1:p.Lys1409Glu
- NP_001394792.1:p.Lys1434Glu
- NP_001394803.1:p.Lys1407Glu
- NP_001394804.1:p.Lys1407Glu
- NP_001394808.1:p.Lys1406Glu
- NP_001394810.1:p.Lys1406Glu
- NP_001394811.1:p.Lys1406Glu
- NP_001394813.1:p.Lys1406Glu
- NP_001394814.1:p.Lys1406Glu
- NP_001394815.1:p.Lys1406Glu
- NP_001394816.1:p.Lys1406Glu
- NP_001394818.1:p.Lys1406Glu
- NP_001394823.1:p.Lys1405Glu
- NP_001394824.1:p.Lys1405Glu
- NP_001394825.1:p.Lys1405Glu
- NP_001394826.1:p.Lys1405Glu
- NP_001394827.1:p.Lys1405Glu
- NP_001394828.1:p.Lys1405Glu
- NP_001394829.1:p.Lys1405Glu
- NP_001394831.1:p.Lys1405Glu
- NP_001394833.1:p.Lys1405Glu
- NP_001394835.1:p.Lys1405Glu
- NP_001394836.1:p.Lys1405Glu
- NP_001394837.1:p.Lys1405Glu
- NP_001394838.1:p.Lys1405Glu
- NP_001394839.1:p.Lys1405Glu
- NP_001394844.1:p.Lys1404Glu
- NP_001394845.1:p.Lys1404Glu
- NP_001394846.1:p.Lys1404Glu
- NP_001394847.1:p.Lys1404Glu
- NP_001394848.1:p.Lys1435Glu
- NP_001394849.1:p.Lys1388Glu
- NP_001394850.1:p.Lys1388Glu
- NP_001394851.1:p.Lys1388Glu
- NP_001394852.1:p.Lys1388Glu
- NP_001394853.1:p.Lys1388Glu
- NP_001394854.1:p.Lys1388Glu
- NP_001394855.1:p.Lys1388Glu
- NP_001394856.1:p.Lys1387Glu
- NP_001394857.1:p.Lys1387Glu
- NP_001394858.1:p.Lys1387Glu
- NP_001394859.1:p.Lys1387Glu
- NP_001394860.1:p.Lys1387Glu
- NP_001394861.1:p.Lys1387Glu
- NP_001394862.1:p.Lys1387Glu
- NP_001394863.1:p.Lys1386Glu
- NP_001394864.1:p.Lys1386Glu
- NP_001394865.1:p.Lys1386Glu
- NP_001394866.1:p.Lys1435Glu
- NP_001394867.1:p.Lys1435Glu
- NP_001394868.1:p.Lys1434Glu
- NP_001394869.1:p.Lys1434Glu
- NP_001394870.1:p.Lys1433Glu
- NP_001394871.1:p.Lys1429Glu
- NP_001394872.1:p.Lys1428Glu
- NP_001394873.1:p.Lys1428Glu
- NP_001394874.1:p.Lys1428Glu
- NP_001394875.1:p.Lys1365Glu
- NP_001394876.1:p.Lys1365Glu
- NP_001394877.1:p.Lys1365Glu
- NP_001394878.1:p.Lys1365Glu
- NP_001394879.1:p.Lys1364Glu
- NP_001394880.1:p.Lys1364Glu
- NP_001394881.1:p.Lys1364Glu
- NP_001394882.1:p.Lys1364Glu
- NP_001394883.1:p.Lys1364Glu
- NP_001394884.1:p.Lys1364Glu
- NP_001394885.1:p.Lys1363Glu
- NP_001394886.1:p.Lys1363Glu
- NP_001394887.1:p.Lys1363Glu
- NP_001394888.1:p.Lys1349Glu
- NP_001394889.1:p.Lys1348Glu
- NP_001394891.1:p.Lys1348Glu
- NP_001394892.1:p.Lys1347Glu
- NP_001394894.1:p.Lys1307Glu
- NP_001394895.1:p.Lys1180Glu
- NP_001394896.1:p.Lys1179Glu
- NP_001394897.1:p.Lys608Glu
- NP_001394898.1:p.Lys607Glu
- NP_001394899.1:p.Lys395Glu
- NP_001394900.1:p.Lys395Glu
- NP_001394901.1:p.Lys394Glu
- NP_001394902.1:p.Lys373Glu
- NP_001394903.1:p.Lys373Glu
- NP_001394904.1:p.Lys373Glu
- NP_001394905.1:p.Lys373Glu
- NP_001394906.1:p.Lys373Glu
- NP_001394907.1:p.Lys373Glu
- NP_001394908.1:p.Lys372Glu
- NP_001394909.1:p.Lys372Glu
- NP_001394910.1:p.Lys372Glu
- NP_001394911.1:p.Lys372Glu
- NP_001394912.1:p.Lys372Glu
- NP_001394913.1:p.Lys372Glu
- NP_001394914.1:p.Lys372Glu
- NP_001394915.1:p.Lys372Glu
- NP_001394919.1:p.Lys372Glu
- NP_001394920.1:p.Lys372Glu
- NP_001394921.1:p.Lys372Glu
- NP_001394922.1:p.Lys372Glu
- NP_001395321.1:p.Lys371Glu
- NP_001395325.1:p.Lys371Glu
- NP_001395326.1:p.Lys371Glu
- NP_001395327.1:p.Lys371Glu
- NP_001395328.1:p.Lys371Glu
- NP_001395329.1:p.Lys371Glu
- NP_001395330.1:p.Lys371Glu
- NP_001395331.1:p.Lys371Glu
- NP_001395332.1:p.Lys371Glu
- NP_001395333.1:p.Lys371Glu
- NP_001395335.1:p.Lys370Glu
- NP_001395336.1:p.Lys370Glu
- NP_001395337.1:p.Lys370Glu
- NP_001395338.1:p.Lys369Glu
- NP_001395339.1:p.Lys348Glu
- NP_001395340.1:p.Lys347Glu
- NP_001395341.1:p.Lys346Glu
- NP_001395342.1:p.Lys346Glu
- NP_001395343.1:p.Lys346Glu
- NP_001395344.1:p.Lys346Glu
- NP_001395345.1:p.Lys346Glu
- NP_001395347.1:p.Lys334Glu
- NP_001395348.1:p.Lys334Glu
- NP_001395349.1:p.Lys334Glu
- NP_001395350.1:p.Lys333Glu
- NP_001395351.1:p.Lys333Glu
- NP_001395352.1:p.Lys333Glu
- NP_001395353.1:p.Lys333Glu
- NP_001395354.1:p.Lys332Glu
- NP_001395355.1:p.Lys332Glu
- NP_001395356.1:p.Lys332Glu
- NP_001395357.1:p.Lys332Glu
- NP_001395358.1:p.Lys332Glu
- NP_001395359.1:p.Lys332Glu
- NP_001395360.1:p.Lys332Glu
- NP_001395361.1:p.Lys331Glu
- NP_001395362.1:p.Lys331Glu
- NP_001395363.1:p.Lys331Glu
- NP_001395364.1:p.Lys331Glu
- NP_001395365.1:p.Lys331Glu
- NP_001395366.1:p.Lys331Glu
- NP_001395367.1:p.Lys331Glu
- NP_001395368.1:p.Lys331Glu
- NP_001395369.1:p.Lys331Glu
- NP_001395370.1:p.Lys331Glu
- NP_001395371.1:p.Lys331Glu
- NP_001395372.1:p.Lys331Glu
- NP_001395373.1:p.Lys331Glu
- NP_001395374.1:p.Lys330Glu
- NP_001395375.1:p.Lys330Glu
- NP_001395376.1:p.Lys330Glu
- NP_001395377.1:p.Lys330Glu
- NP_001395379.1:p.Lys330Glu
- NP_001395380.1:p.Lys328Glu
- NP_001395381.1:p.Lys326Glu
- NP_001395382.1:p.Lys326Glu
- NP_001395383.1:p.Lys326Glu
- NP_001395384.1:p.Lys326Glu
- NP_001395385.1:p.Lys326Glu
- NP_001395386.1:p.Lys326Glu
- NP_001395387.1:p.Lys325Glu
- NP_001395388.1:p.Lys325Glu
- NP_001395389.1:p.Lys325Glu
- NP_001395390.1:p.Lys325Glu
- NP_001395391.1:p.Lys325Glu
- NP_001395392.1:p.Lys325Glu
- NP_001395393.1:p.Lys325Glu
- NP_001395394.1:p.Lys325Glu
- NP_001395395.1:p.Lys325Glu
- NP_001395396.1:p.Lys325Glu
- NP_001395397.1:p.Lys324Glu
- NP_001395398.1:p.Lys324Glu
- NP_001395399.1:p.Lys324Glu
- NP_001395401.1:p.Lys372Glu
- NP_001395402.1:p.Lys371Glu
- NP_001395403.1:p.Lys306Glu
- NP_001395404.1:p.Lys305Glu
- NP_001395405.1:p.Lys305Glu
- NP_001395407.1:p.Lys303Glu
- NP_001395408.1:p.Lys303Glu
- NP_001395409.1:p.Lys303Glu
- NP_001395410.1:p.Lys302Glu
- NP_001395411.1:p.Lys302Glu
- NP_001395412.1:p.Lys302Glu
- NP_001395413.1:p.Lys302Glu
- NP_001395414.1:p.Lys302Glu
- NP_001395418.1:p.Lys302Glu
- NP_001395419.1:p.Lys302Glu
- NP_001395420.1:p.Lys302Glu
- NP_001395421.1:p.Lys301Glu
- NP_001395422.1:p.Lys301Glu
- NP_001395423.1:p.Lys293Glu
- NP_001395424.1:p.Lys291Glu
- NP_001395425.1:p.Lys285Glu
- NP_001395426.1:p.Lys285Glu
- NP_001395427.1:p.Lys285Glu
- NP_001395428.1:p.Lys285Glu
- NP_001395429.1:p.Lys285Glu
- NP_001395430.1:p.Lys285Glu
- NP_001395431.1:p.Lys284Glu
- NP_001395432.1:p.Lys284Glu
- NP_001395433.1:p.Lys284Glu
- NP_001395434.1:p.Lys283Glu
- NP_001395435.1:p.Lys264Glu
- NP_001395436.1:p.Lys263Glu
- NP_001395437.1:p.Lys260Glu
- NP_001395438.1:p.Lys259Glu
- NP_001395439.1:p.Lys246Glu
- NP_001395440.1:p.Lys245Glu
- NP_001395441.1:p.Lys205Glu
- NP_009225.1:p.Lys1476Glu
- NP_009225.1:p.Lys1476Glu
- NP_009228.2:p.Lys1429Glu
- NP_009229.2:p.Lys372Glu
- NP_009229.2:p.Lys372Glu
- NP_009230.2:p.Lys372Glu
- NP_009231.2:p.Lys1497Glu
- NP_009235.2:p.Lys372Glu
- LRG_292t1:c.4426A>G
- LRG_292:g.141438A>G
- LRG_292p1:p.Lys1476Glu
- NC_000017.10:g.41228563T>C
- NM_007294.3:c.4426A>G
- NM_007298.3:c.1114A>G
- NR_027676.2:n.4603A>G
This HGVS expression did not pass validation- Protein change:
- K1179E
- Links:
- dbSNP: rs2052729907
- NCBI 1000 Genomes Browser:
- rs2052729907
- Molecular consequence:
- NM_001407571.1:c.4213A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407581.1:c.4492A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407582.1:c.4492A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407583.1:c.4489A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407585.1:c.4489A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407587.1:c.4489A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407590.1:c.4486A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407591.1:c.4486A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407593.1:c.4426A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407594.1:c.4426A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407596.1:c.4426A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407597.1:c.4426A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407598.1:c.4426A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407602.1:c.4426A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407603.1:c.4426A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407605.1:c.4426A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407610.1:c.4423A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407611.1:c.4423A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407612.1:c.4423A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407613.1:c.4423A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407614.1:c.4423A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407615.1:c.4423A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407616.1:c.4423A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407617.1:c.4423A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407618.1:c.4423A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407619.1:c.4423A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407620.1:c.4423A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407621.1:c.4423A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407622.1:c.4423A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407623.1:c.4423A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407624.1:c.4423A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407625.1:c.4423A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407626.1:c.4423A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407627.1:c.4420A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407628.1:c.4420A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407629.1:c.4420A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407630.1:c.4420A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407631.1:c.4420A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407632.1:c.4420A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407633.1:c.4420A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407634.1:c.4420A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407635.1:c.4420A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407636.1:c.4420A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407637.1:c.4420A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407638.1:c.4420A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407639.1:c.4420A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407640.1:c.4420A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407641.1:c.4420A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407642.1:c.4420A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407644.1:c.4417A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407645.1:c.4417A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407646.1:c.4414A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407647.1:c.4411A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407648.1:c.4369A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407649.1:c.4366A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407652.1:c.4426A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407653.1:c.4348A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407654.1:c.4348A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407655.1:c.4348A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407656.1:c.4345A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407657.1:c.4345A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407658.1:c.4345A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407659.1:c.4342A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407660.1:c.4342A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407661.1:c.4342A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407662.1:c.4342A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407663.1:c.4342A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407664.1:c.4303A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407665.1:c.4303A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407666.1:c.4303A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407667.1:c.4303A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407668.1:c.4303A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407669.1:c.4303A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407670.1:c.4300A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407671.1:c.4300A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407672.1:c.4300A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407673.1:c.4300A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407674.1:c.4300A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407675.1:c.4300A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407676.1:c.4300A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407677.1:c.4300A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407678.1:c.4300A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407679.1:c.4300A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407680.1:c.4300A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407681.1:c.4297A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407682.1:c.4297A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407683.1:c.4297A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407684.1:c.4426A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407685.1:c.4297A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407686.1:c.4297A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407687.1:c.4297A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407688.1:c.4297A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407689.1:c.4297A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407690.1:c.4294A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407691.1:c.4294A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407692.1:c.4285A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407694.1:c.4285A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407695.1:c.4285A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407696.1:c.4285A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407697.1:c.4285A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407698.1:c.4285A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407724.1:c.4285A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407725.1:c.4285A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407726.1:c.4285A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407727.1:c.4285A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407728.1:c.4285A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407729.1:c.4285A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407730.1:c.4285A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407731.1:c.4285A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407732.1:c.4282A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407733.1:c.4282A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407734.1:c.4282A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407735.1:c.4282A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407736.1:c.4282A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407737.1:c.4282A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407738.1:c.4282A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407739.1:c.4282A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407740.1:c.4282A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407741.1:c.4282A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407742.1:c.4282A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407743.1:c.4282A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407744.1:c.4282A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407745.1:c.4282A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407746.1:c.4282A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407747.1:c.4282A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407748.1:c.4282A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407749.1:c.4282A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407750.1:c.4282A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407751.1:c.4282A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407752.1:c.4282A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407838.1:c.4279A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407839.1:c.4279A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407841.1:c.4279A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407842.1:c.4279A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407843.1:c.4279A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407844.1:c.4279A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407845.1:c.4279A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407846.1:c.4279A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407847.1:c.4279A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407848.1:c.4279A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407849.1:c.4279A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407850.1:c.4279A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407851.1:c.4279A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407852.1:c.4279A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407853.1:c.4279A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407854.1:c.4426A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407858.1:c.4423A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407859.1:c.4423A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407860.1:c.4423A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407861.1:c.4420A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407862.1:c.4225A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407863.1:c.4300A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407874.1:c.4219A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407875.1:c.4219A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407879.1:c.4216A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407881.1:c.4216A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407882.1:c.4216A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407884.1:c.4216A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407885.1:c.4216A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407886.1:c.4216A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407887.1:c.4216A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407889.1:c.4216A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407894.1:c.4213A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407895.1:c.4213A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407896.1:c.4213A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407897.1:c.4213A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407898.1:c.4213A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407899.1:c.4213A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407900.1:c.4213A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407902.1:c.4213A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407904.1:c.4213A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407906.1:c.4213A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407907.1:c.4213A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407908.1:c.4213A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407909.1:c.4213A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407910.1:c.4213A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407915.1:c.4210A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407916.1:c.4210A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407917.1:c.4210A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407918.1:c.4210A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407919.1:c.4303A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407920.1:c.4162A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407921.1:c.4162A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407922.1:c.4162A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407923.1:c.4162A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407924.1:c.4162A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407925.1:c.4162A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407926.1:c.4162A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407927.1:c.4159A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407928.1:c.4159A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407929.1:c.4159A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407930.1:c.4159A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407931.1:c.4159A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407932.1:c.4159A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407933.1:c.4159A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407934.1:c.4156A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407935.1:c.4156A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407936.1:c.4156A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407937.1:c.4303A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407938.1:c.4303A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407939.1:c.4300A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407940.1:c.4300A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407941.1:c.4297A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407942.1:c.4285A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407943.1:c.4282A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407944.1:c.4282A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407945.1:c.4282A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407946.1:c.4093A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407947.1:c.4093A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407948.1:c.4093A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407949.1:c.4093A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407950.1:c.4090A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407951.1:c.4090A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407952.1:c.4090A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407953.1:c.4090A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407954.1:c.4090A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407955.1:c.4090A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407956.1:c.4087A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407957.1:c.4087A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407958.1:c.4087A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407959.1:c.4045A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407960.1:c.4042A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407962.1:c.4042A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407963.1:c.4039A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407965.1:c.3919A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407966.1:c.3538A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407967.1:c.3535A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407968.1:c.1822A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407969.1:c.1819A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407970.1:c.1183A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407971.1:c.1183A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407972.1:c.1180A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407973.1:c.1117A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407974.1:c.1117A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407975.1:c.1117A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407976.1:c.1117A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407977.1:c.1117A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407978.1:c.1117A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407979.1:c.1114A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407980.1:c.1114A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407981.1:c.1114A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407982.1:c.1114A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407983.1:c.1114A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407984.1:c.1114A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407985.1:c.1114A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407986.1:c.1114A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407990.1:c.1114A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407991.1:c.1114A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407992.1:c.1114A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407993.1:c.1114A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408392.1:c.1111A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408396.1:c.1111A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408397.1:c.1111A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408398.1:c.1111A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408399.1:c.1111A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408400.1:c.1111A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408401.1:c.1111A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408402.1:c.1111A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408403.1:c.1111A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408404.1:c.1111A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408406.1:c.1108A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408407.1:c.1108A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408408.1:c.1108A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408409.1:c.1105A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408410.1:c.1042A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408411.1:c.1039A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408412.1:c.1036A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408413.1:c.1036A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408414.1:c.1036A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408415.1:c.1036A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408416.1:c.1036A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408418.1:c.1000A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408419.1:c.1000A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408420.1:c.1000A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408421.1:c.997A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408422.1:c.997A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408423.1:c.997A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408424.1:c.997A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408425.1:c.994A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408426.1:c.994A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408427.1:c.994A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408428.1:c.994A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408429.1:c.994A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408430.1:c.994A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408431.1:c.994A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408432.1:c.991A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408433.1:c.991A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408434.1:c.991A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408435.1:c.991A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408436.1:c.991A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408437.1:c.991A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408438.1:c.991A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408439.1:c.991A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408440.1:c.991A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408441.1:c.991A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408442.1:c.991A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408443.1:c.991A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408444.1:c.991A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408445.1:c.988A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408446.1:c.988A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408447.1:c.988A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408448.1:c.988A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408450.1:c.988A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408451.1:c.982A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408452.1:c.976A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408453.1:c.976A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408454.1:c.976A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408455.1:c.976A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408456.1:c.976A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408457.1:c.976A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408458.1:c.973A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408459.1:c.973A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408460.1:c.973A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408461.1:c.973A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408462.1:c.973A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408463.1:c.973A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408464.1:c.973A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408465.1:c.973A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408466.1:c.973A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408467.1:c.973A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408468.1:c.970A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408469.1:c.970A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408470.1:c.970A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408472.1:c.1114A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408473.1:c.1111A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408474.1:c.916A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408475.1:c.913A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408476.1:c.913A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408478.1:c.907A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408479.1:c.907A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408480.1:c.907A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408481.1:c.904A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408482.1:c.904A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408483.1:c.904A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408484.1:c.904A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408485.1:c.904A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408489.1:c.904A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408490.1:c.904A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408491.1:c.904A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408492.1:c.901A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408493.1:c.901A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408494.1:c.877A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408495.1:c.871A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408496.1:c.853A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408497.1:c.853A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408498.1:c.853A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408499.1:c.853A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408500.1:c.853A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408501.1:c.853A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408502.1:c.850A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408503.1:c.850A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408504.1:c.850A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408505.1:c.847A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408506.1:c.790A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408507.1:c.787A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408508.1:c.778A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408509.1:c.775A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408510.1:c.736A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408511.1:c.733A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408512.1:c.613A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007294.4:c.4426A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007297.4:c.4285A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007298.4:c.1114A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007299.4:c.1114A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007300.4:c.4489A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007304.2:c.1114A>G - missense variant - [Sequence Ontology: SO:0001583]
- NR_027676.2:n.4603A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
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
-
Escherichia coli strain EC20-72C-1 plasmid pEC20-C72-1-2, complete sequence
Escherichia coli strain EC20-72C-1 plasmid pEC20-C72-1-2, complete sequencegi|2326776448|ref|NZ_AP026963.1|Nucleotide
-
D12Jpk2 AND (alive[prop]) (0)
Gene
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See more...Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV001345126 | Color Diagnostics, LLC DBA Color Health | criteria provided, single submitter (ACMG Guidelines, 2015) | Uncertain significance (Jan 27, 2020) | germline | clinical testing |
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 |
Citations
PubMed
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.
- PMID:
- 25741868
- PMCID:
- PMC4544753
Details of each submission
From Color Diagnostics, LLC DBA Color Health, SCV001345126.2
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
Description
This missense variant replaces lysine with glutamic acid at codon 1476 of the BRCA1 protein. Computational prediction tool suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold ≤0.5, PMID: 27666373). Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
# | 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: Jun 23, 2024