NM_007294.4(BRCA1):c.3143G>T (p.Gly1048Val) AND not provided
- 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:
- RCV000590820.17
Allele description [Variation Report for NM_007294.4(BRCA1):c.3143G>T (p.Gly1048Val)]
NM_007294.4(BRCA1):c.3143G>T (p.Gly1048Val)
- 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.3143G>T (p.Gly1048Val)
- Other names:
- p.G1048V:GGT>GTT
- HGVS:
- NC_000017.11:g.43092388C>A
- NG_005905.2:g.125596G>T
- NG_087068.1:g.1370C>A
- NM_001407571.1:c.2930G>T
- NM_001407581.1:c.3143G>T
- NM_001407582.1:c.3143G>T
- NM_001407583.1:c.3143G>T
- NM_001407585.1:c.3143G>T
- NM_001407587.1:c.3140G>T
- NM_001407590.1:c.3140G>T
- NM_001407591.1:c.3140G>T
- NM_001407593.1:c.3143G>T
- NM_001407594.1:c.3143G>T
- NM_001407596.1:c.3143G>T
- NM_001407597.1:c.3143G>T
- NM_001407598.1:c.3143G>T
- NM_001407602.1:c.3143G>T
- NM_001407603.1:c.3143G>T
- NM_001407605.1:c.3143G>T
- NM_001407610.1:c.3140G>T
- NM_001407611.1:c.3140G>T
- NM_001407612.1:c.3140G>T
- NM_001407613.1:c.3140G>T
- NM_001407614.1:c.3140G>T
- NM_001407615.1:c.3140G>T
- NM_001407616.1:c.3143G>T
- NM_001407617.1:c.3143G>T
- NM_001407618.1:c.3143G>T
- NM_001407619.1:c.3143G>T
- NM_001407620.1:c.3143G>T
- NM_001407621.1:c.3143G>T
- NM_001407622.1:c.3143G>T
- NM_001407623.1:c.3143G>T
- NM_001407624.1:c.3143G>T
- NM_001407625.1:c.3143G>T
- NM_001407626.1:c.3143G>T
- NM_001407627.1:c.3140G>T
- NM_001407628.1:c.3140G>T
- NM_001407629.1:c.3140G>T
- NM_001407630.1:c.3140G>T
- NM_001407631.1:c.3140G>T
- NM_001407632.1:c.3140G>T
- NM_001407633.1:c.3140G>T
- NM_001407634.1:c.3140G>T
- NM_001407635.1:c.3140G>T
- NM_001407636.1:c.3140G>T
- NM_001407637.1:c.3140G>T
- NM_001407638.1:c.3140G>T
- NM_001407639.1:c.3143G>T
- NM_001407640.1:c.3143G>T
- NM_001407641.1:c.3143G>T
- NM_001407642.1:c.3143G>T
- NM_001407644.1:c.3140G>T
- NM_001407645.1:c.3140G>T
- NM_001407646.1:c.3134G>T
- NM_001407647.1:c.3134G>T
- NM_001407648.1:c.3020G>T
- NM_001407649.1:c.3017G>T
- NM_001407652.1:c.3143G>T
- NM_001407653.1:c.3065G>T
- NM_001407654.1:c.3065G>T
- NM_001407655.1:c.3065G>T
- NM_001407656.1:c.3065G>T
- NM_001407657.1:c.3065G>T
- NM_001407658.1:c.3065G>T
- NM_001407659.1:c.3062G>T
- NM_001407660.1:c.3062G>T
- NM_001407661.1:c.3062G>T
- NM_001407662.1:c.3062G>T
- NM_001407663.1:c.3065G>T
- NM_001407664.1:c.3020G>T
- NM_001407665.1:c.3020G>T
- NM_001407666.1:c.3020G>T
- NM_001407667.1:c.3020G>T
- NM_001407668.1:c.3020G>T
- NM_001407669.1:c.3020G>T
- NM_001407670.1:c.3017G>T
- NM_001407671.1:c.3017G>T
- NM_001407672.1:c.3017G>T
- NM_001407673.1:c.3017G>T
- NM_001407674.1:c.3020G>T
- NM_001407675.1:c.3020G>T
- NM_001407676.1:c.3020G>T
- NM_001407677.1:c.3020G>T
- NM_001407678.1:c.3020G>T
- NM_001407679.1:c.3020G>T
- NM_001407680.1:c.3020G>T
- NM_001407681.1:c.3020G>T
- NM_001407682.1:c.3020G>T
- NM_001407683.1:c.3020G>T
- NM_001407684.1:c.3143G>T
- NM_001407685.1:c.3017G>T
- NM_001407686.1:c.3017G>T
- NM_001407687.1:c.3017G>T
- NM_001407688.1:c.3017G>T
- NM_001407689.1:c.3017G>T
- NM_001407690.1:c.3017G>T
- NM_001407691.1:c.3017G>T
- NM_001407692.1:c.3002G>T
- NM_001407694.1:c.3002G>T
- NM_001407695.1:c.3002G>T
- NM_001407696.1:c.3002G>T
- NM_001407697.1:c.3002G>T
- NM_001407698.1:c.3002G>T
- NM_001407724.1:c.3002G>T
- NM_001407725.1:c.3002G>T
- NM_001407726.1:c.3002G>T
- NM_001407727.1:c.3002G>T
- NM_001407728.1:c.3002G>T
- NM_001407729.1:c.3002G>T
- NM_001407730.1:c.3002G>T
- NM_001407731.1:c.3002G>T
- NM_001407732.1:c.3002G>T
- NM_001407733.1:c.3002G>T
- NM_001407734.1:c.3002G>T
- NM_001407735.1:c.3002G>T
- NM_001407736.1:c.3002G>T
- NM_001407737.1:c.3002G>T
- NM_001407738.1:c.3002G>T
- NM_001407739.1:c.3002G>T
- NM_001407740.1:c.2999G>T
- NM_001407741.1:c.2999G>T
- NM_001407742.1:c.2999G>T
- NM_001407743.1:c.2999G>T
- NM_001407744.1:c.2999G>T
- NM_001407745.1:c.2999G>T
- NM_001407746.1:c.2999G>T
- NM_001407747.1:c.2999G>T
- NM_001407748.1:c.2999G>T
- NM_001407749.1:c.2999G>T
- NM_001407750.1:c.3002G>T
- NM_001407751.1:c.3002G>T
- NM_001407752.1:c.3002G>T
- NM_001407838.1:c.2999G>T
- NM_001407839.1:c.2999G>T
- NM_001407841.1:c.2999G>T
- NM_001407842.1:c.2999G>T
- NM_001407843.1:c.2999G>T
- NM_001407844.1:c.2999G>T
- NM_001407845.1:c.2999G>T
- NM_001407846.1:c.2999G>T
- NM_001407847.1:c.2999G>T
- NM_001407848.1:c.2999G>T
- NM_001407849.1:c.2999G>T
- NM_001407850.1:c.3002G>T
- NM_001407851.1:c.3002G>T
- NM_001407852.1:c.3002G>T
- NM_001407853.1:c.2930G>T
- NM_001407854.1:c.3143G>T
- NM_001407858.1:c.3143G>T
- NM_001407859.1:c.3143G>T
- NM_001407860.1:c.3140G>T
- NM_001407861.1:c.3140G>T
- NM_001407862.1:c.2942G>T
- NM_001407863.1:c.3020G>T
- NM_001407874.1:c.2939G>T
- NM_001407875.1:c.2939G>T
- NM_001407879.1:c.2933G>T
- NM_001407881.1:c.2933G>T
- NM_001407882.1:c.2933G>T
- NM_001407884.1:c.2933G>T
- NM_001407885.1:c.2933G>T
- NM_001407886.1:c.2933G>T
- NM_001407887.1:c.2933G>T
- NM_001407889.1:c.2933G>T
- NM_001407894.1:c.2930G>T
- NM_001407895.1:c.2930G>T
- NM_001407896.1:c.2930G>T
- NM_001407897.1:c.2930G>T
- NM_001407898.1:c.2930G>T
- NM_001407899.1:c.2930G>T
- NM_001407900.1:c.2933G>T
- NM_001407902.1:c.2933G>T
- NM_001407904.1:c.2933G>T
- NM_001407906.1:c.2933G>T
- NM_001407907.1:c.2933G>T
- NM_001407908.1:c.2933G>T
- NM_001407909.1:c.2933G>T
- NM_001407910.1:c.2933G>T
- NM_001407915.1:c.2930G>T
- NM_001407916.1:c.2930G>T
- NM_001407917.1:c.2930G>T
- NM_001407918.1:c.2930G>T
- NM_001407919.1:c.3020G>T
- NM_001407920.1:c.2879G>T
- NM_001407921.1:c.2879G>T
- NM_001407922.1:c.2879G>T
- NM_001407923.1:c.2879G>T
- NM_001407924.1:c.2879G>T
- NM_001407925.1:c.2879G>T
- NM_001407926.1:c.2879G>T
- NM_001407927.1:c.2879G>T
- NM_001407928.1:c.2879G>T
- NM_001407929.1:c.2879G>T
- NM_001407930.1:c.2876G>T
- NM_001407931.1:c.2876G>T
- NM_001407932.1:c.2876G>T
- NM_001407933.1:c.2879G>T
- NM_001407934.1:c.2876G>T
- NM_001407935.1:c.2879G>T
- NM_001407936.1:c.2876G>T
- NM_001407937.1:c.3020G>T
- NM_001407938.1:c.3020G>T
- NM_001407939.1:c.3020G>T
- NM_001407940.1:c.3017G>T
- NM_001407941.1:c.3017G>T
- NM_001407942.1:c.3002G>T
- NM_001407943.1:c.2999G>T
- NM_001407944.1:c.3002G>T
- NM_001407945.1:c.3002G>T
- NM_001407946.1:c.2810G>T
- NM_001407947.1:c.2810G>T
- NM_001407948.1:c.2810G>T
- NM_001407949.1:c.2810G>T
- NM_001407950.1:c.2810G>T
- NM_001407951.1:c.2810G>T
- NM_001407952.1:c.2810G>T
- NM_001407953.1:c.2810G>T
- NM_001407954.1:c.2807G>T
- NM_001407955.1:c.2807G>T
- NM_001407956.1:c.2807G>T
- NM_001407957.1:c.2810G>T
- NM_001407958.1:c.2807G>T
- NM_001407959.1:c.2762G>T
- NM_001407960.1:c.2762G>T
- NM_001407962.1:c.2759G>T
- NM_001407963.1:c.2762G>T
- NM_001407964.1:c.2999G>T
- NM_001407965.1:c.2639G>T
- NM_001407966.1:c.2255G>T
- NM_001407967.1:c.2255G>T
- NM_001407968.1:c.788-249G>T
- NM_001407969.1:c.788-249G>T
- NM_001407970.1:c.788-1356G>T
- NM_001407971.1:c.788-1356G>T
- NM_001407972.1:c.785-1356G>T
- NM_001407973.1:c.788-1356G>T
- NM_001407974.1:c.788-1356G>T
- NM_001407975.1:c.788-1356G>T
- NM_001407976.1:c.788-1356G>T
- NM_001407977.1:c.788-1356G>T
- NM_001407978.1:c.788-1356G>T
- NM_001407979.1:c.788-1356G>T
- NM_001407980.1:c.788-1356G>T
- NM_001407981.1:c.788-1356G>T
- NM_001407982.1:c.788-1356G>T
- NM_001407983.1:c.788-1356G>T
- NM_001407984.1:c.785-1356G>T
- NM_001407985.1:c.785-1356G>T
- NM_001407986.1:c.785-1356G>T
- NM_001407990.1:c.788-1356G>T
- NM_001407991.1:c.785-1356G>T
- NM_001407992.1:c.785-1356G>T
- NM_001407993.1:c.788-1356G>T
- NM_001408392.1:c.785-1356G>T
- NM_001408396.1:c.785-1356G>T
- NM_001408397.1:c.785-1356G>T
- NM_001408398.1:c.785-1356G>T
- NM_001408399.1:c.785-1356G>T
- NM_001408400.1:c.785-1356G>T
- NM_001408401.1:c.785-1356G>T
- NM_001408402.1:c.785-1356G>T
- NM_001408403.1:c.788-1356G>T
- NM_001408404.1:c.788-1356G>T
- NM_001408406.1:c.791-1365G>T
- NM_001408407.1:c.785-1356G>T
- NM_001408408.1:c.779-1356G>T
- NM_001408409.1:c.710-1356G>T
- NM_001408410.1:c.647-1356G>T
- NM_001408411.1:c.710-1356G>T
- NM_001408412.1:c.710-1356G>T
- NM_001408413.1:c.707-1356G>T
- NM_001408414.1:c.710-1356G>T
- NM_001408415.1:c.710-1356G>T
- NM_001408416.1:c.707-1356G>T
- NM_001408418.1:c.671-1356G>T
- NM_001408419.1:c.671-1356G>T
- NM_001408420.1:c.671-1356G>T
- NM_001408421.1:c.668-1356G>T
- NM_001408422.1:c.671-1356G>T
- NM_001408423.1:c.671-1356G>T
- NM_001408424.1:c.668-1356G>T
- NM_001408425.1:c.665-1356G>T
- NM_001408426.1:c.665-1356G>T
- NM_001408427.1:c.665-1356G>T
- NM_001408428.1:c.665-1356G>T
- NM_001408429.1:c.665-1356G>T
- NM_001408430.1:c.665-1356G>T
- NM_001408431.1:c.668-1356G>T
- NM_001408432.1:c.662-1356G>T
- NM_001408433.1:c.662-1356G>T
- NM_001408434.1:c.662-1356G>T
- NM_001408435.1:c.662-1356G>T
- NM_001408436.1:c.665-1356G>T
- NM_001408437.1:c.665-1356G>T
- NM_001408438.1:c.665-1356G>T
- NM_001408439.1:c.665-1356G>T
- NM_001408440.1:c.665-1356G>T
- NM_001408441.1:c.665-1356G>T
- NM_001408442.1:c.665-1356G>T
- NM_001408443.1:c.665-1356G>T
- NM_001408444.1:c.665-1356G>T
- NM_001408445.1:c.662-1356G>T
- NM_001408446.1:c.662-1356G>T
- NM_001408447.1:c.662-1356G>T
- NM_001408448.1:c.662-1356G>T
- NM_001408450.1:c.662-1356G>T
- NM_001408451.1:c.653-1356G>T
- NM_001408452.1:c.647-1356G>T
- NM_001408453.1:c.647-1356G>T
- NM_001408454.1:c.647-1356G>T
- NM_001408455.1:c.647-1356G>T
- NM_001408456.1:c.647-1356G>T
- NM_001408457.1:c.647-1356G>T
- NM_001408458.1:c.647-1356G>T
- NM_001408459.1:c.647-1356G>T
- NM_001408460.1:c.647-1356G>T
- NM_001408461.1:c.647-1356G>T
- NM_001408462.1:c.644-1356G>T
- NM_001408463.1:c.644-1356G>T
- NM_001408464.1:c.644-1356G>T
- NM_001408465.1:c.644-1356G>T
- NM_001408466.1:c.647-1356G>T
- NM_001408467.1:c.647-1356G>T
- NM_001408468.1:c.644-1356G>T
- NM_001408469.1:c.647-1356G>T
- NM_001408470.1:c.644-1356G>T
- NM_001408472.1:c.788-1356G>T
- NM_001408473.1:c.785-1356G>T
- NM_001408474.1:c.587-1356G>T
- NM_001408475.1:c.584-1356G>T
- NM_001408476.1:c.587-1356G>T
- NM_001408478.1:c.578-1356G>T
- NM_001408479.1:c.578-1356G>T
- NM_001408480.1:c.578-1356G>T
- NM_001408481.1:c.578-1356G>T
- NM_001408482.1:c.578-1356G>T
- NM_001408483.1:c.578-1356G>T
- NM_001408484.1:c.578-1356G>T
- NM_001408485.1:c.578-1356G>T
- NM_001408489.1:c.578-1356G>T
- NM_001408490.1:c.575-1356G>T
- NM_001408491.1:c.575-1356G>T
- NM_001408492.1:c.578-1356G>T
- NM_001408493.1:c.575-1356G>T
- NM_001408494.1:c.548-1356G>T
- NM_001408495.1:c.545-1356G>T
- NM_001408496.1:c.524-1356G>T
- NM_001408497.1:c.524-1356G>T
- NM_001408498.1:c.524-1356G>T
- NM_001408499.1:c.524-1356G>T
- NM_001408500.1:c.524-1356G>T
- NM_001408501.1:c.524-1356G>T
- NM_001408502.1:c.455-1356G>T
- NM_001408503.1:c.521-1356G>T
- NM_001408504.1:c.521-1356G>T
- NM_001408505.1:c.521-1356G>T
- NM_001408506.1:c.461-1356G>T
- NM_001408507.1:c.461-1356G>T
- NM_001408508.1:c.452-1356G>T
- NM_001408509.1:c.452-1356G>T
- NM_001408510.1:c.407-1356G>T
- NM_001408511.1:c.404-1356G>T
- NM_001408512.1:c.284-1356G>T
- NM_001408513.1:c.578-1356G>T
- NM_001408514.1:c.578-1356G>T
- NM_007294.4:c.3143G>TMANE SELECT
- NM_007297.4:c.3002G>T
- NM_007298.4:c.788-1356G>T
- NM_007299.4:c.788-1356G>T
- NM_007300.4:c.3143G>T
- NP_001394500.1:p.Gly977Val
- NP_001394510.1:p.Gly1048Val
- NP_001394511.1:p.Gly1048Val
- NP_001394512.1:p.Gly1048Val
- NP_001394514.1:p.Gly1048Val
- NP_001394516.1:p.Gly1047Val
- NP_001394519.1:p.Gly1047Val
- NP_001394520.1:p.Gly1047Val
- NP_001394522.1:p.Gly1048Val
- NP_001394523.1:p.Gly1048Val
- NP_001394525.1:p.Gly1048Val
- NP_001394526.1:p.Gly1048Val
- NP_001394527.1:p.Gly1048Val
- NP_001394531.1:p.Gly1048Val
- NP_001394532.1:p.Gly1048Val
- NP_001394534.1:p.Gly1048Val
- NP_001394539.1:p.Gly1047Val
- NP_001394540.1:p.Gly1047Val
- NP_001394541.1:p.Gly1047Val
- NP_001394542.1:p.Gly1047Val
- NP_001394543.1:p.Gly1047Val
- NP_001394544.1:p.Gly1047Val
- NP_001394545.1:p.Gly1048Val
- NP_001394546.1:p.Gly1048Val
- NP_001394547.1:p.Gly1048Val
- NP_001394548.1:p.Gly1048Val
- NP_001394549.1:p.Gly1048Val
- NP_001394550.1:p.Gly1048Val
- NP_001394551.1:p.Gly1048Val
- NP_001394552.1:p.Gly1048Val
- NP_001394553.1:p.Gly1048Val
- NP_001394554.1:p.Gly1048Val
- NP_001394555.1:p.Gly1048Val
- NP_001394556.1:p.Gly1047Val
- NP_001394557.1:p.Gly1047Val
- NP_001394558.1:p.Gly1047Val
- NP_001394559.1:p.Gly1047Val
- NP_001394560.1:p.Gly1047Val
- NP_001394561.1:p.Gly1047Val
- NP_001394562.1:p.Gly1047Val
- NP_001394563.1:p.Gly1047Val
- NP_001394564.1:p.Gly1047Val
- NP_001394565.1:p.Gly1047Val
- NP_001394566.1:p.Gly1047Val
- NP_001394567.1:p.Gly1047Val
- NP_001394568.1:p.Gly1048Val
- NP_001394569.1:p.Gly1048Val
- NP_001394570.1:p.Gly1048Val
- NP_001394571.1:p.Gly1048Val
- NP_001394573.1:p.Gly1047Val
- NP_001394574.1:p.Gly1047Val
- NP_001394575.1:p.Gly1045Val
- NP_001394576.1:p.Gly1045Val
- NP_001394577.1:p.Gly1007Val
- NP_001394578.1:p.Gly1006Val
- NP_001394581.1:p.Gly1048Val
- NP_001394582.1:p.Gly1022Val
- NP_001394583.1:p.Gly1022Val
- NP_001394584.1:p.Gly1022Val
- NP_001394585.1:p.Gly1022Val
- NP_001394586.1:p.Gly1022Val
- NP_001394587.1:p.Gly1022Val
- NP_001394588.1:p.Gly1021Val
- NP_001394589.1:p.Gly1021Val
- NP_001394590.1:p.Gly1021Val
- NP_001394591.1:p.Gly1021Val
- NP_001394592.1:p.Gly1022Val
- NP_001394593.1:p.Gly1007Val
- NP_001394594.1:p.Gly1007Val
- NP_001394595.1:p.Gly1007Val
- NP_001394596.1:p.Gly1007Val
- NP_001394597.1:p.Gly1007Val
- NP_001394598.1:p.Gly1007Val
- NP_001394599.1:p.Gly1006Val
- NP_001394600.1:p.Gly1006Val
- NP_001394601.1:p.Gly1006Val
- NP_001394602.1:p.Gly1006Val
- NP_001394603.1:p.Gly1007Val
- NP_001394604.1:p.Gly1007Val
- NP_001394605.1:p.Gly1007Val
- NP_001394606.1:p.Gly1007Val
- NP_001394607.1:p.Gly1007Val
- NP_001394608.1:p.Gly1007Val
- NP_001394609.1:p.Gly1007Val
- NP_001394610.1:p.Gly1007Val
- NP_001394611.1:p.Gly1007Val
- NP_001394612.1:p.Gly1007Val
- NP_001394613.1:p.Gly1048Val
- NP_001394614.1:p.Gly1006Val
- NP_001394615.1:p.Gly1006Val
- NP_001394616.1:p.Gly1006Val
- NP_001394617.1:p.Gly1006Val
- NP_001394618.1:p.Gly1006Val
- NP_001394619.1:p.Gly1006Val
- NP_001394620.1:p.Gly1006Val
- NP_001394621.1:p.Gly1001Val
- NP_001394623.1:p.Gly1001Val
- NP_001394624.1:p.Gly1001Val
- NP_001394625.1:p.Gly1001Val
- NP_001394626.1:p.Gly1001Val
- NP_001394627.1:p.Gly1001Val
- NP_001394653.1:p.Gly1001Val
- NP_001394654.1:p.Gly1001Val
- NP_001394655.1:p.Gly1001Val
- NP_001394656.1:p.Gly1001Val
- NP_001394657.1:p.Gly1001Val
- NP_001394658.1:p.Gly1001Val
- NP_001394659.1:p.Gly1001Val
- NP_001394660.1:p.Gly1001Val
- NP_001394661.1:p.Gly1001Val
- NP_001394662.1:p.Gly1001Val
- NP_001394663.1:p.Gly1001Val
- NP_001394664.1:p.Gly1001Val
- NP_001394665.1:p.Gly1001Val
- NP_001394666.1:p.Gly1001Val
- NP_001394667.1:p.Gly1001Val
- NP_001394668.1:p.Gly1001Val
- NP_001394669.1:p.Gly1000Val
- NP_001394670.1:p.Gly1000Val
- NP_001394671.1:p.Gly1000Val
- NP_001394672.1:p.Gly1000Val
- NP_001394673.1:p.Gly1000Val
- NP_001394674.1:p.Gly1000Val
- NP_001394675.1:p.Gly1000Val
- NP_001394676.1:p.Gly1000Val
- NP_001394677.1:p.Gly1000Val
- NP_001394678.1:p.Gly1000Val
- NP_001394679.1:p.Gly1001Val
- NP_001394680.1:p.Gly1001Val
- NP_001394681.1:p.Gly1001Val
- NP_001394767.1:p.Gly1000Val
- NP_001394768.1:p.Gly1000Val
- NP_001394770.1:p.Gly1000Val
- NP_001394771.1:p.Gly1000Val
- NP_001394772.1:p.Gly1000Val
- NP_001394773.1:p.Gly1000Val
- NP_001394774.1:p.Gly1000Val
- NP_001394775.1:p.Gly1000Val
- NP_001394776.1:p.Gly1000Val
- NP_001394777.1:p.Gly1000Val
- NP_001394778.1:p.Gly1000Val
- NP_001394779.1:p.Gly1001Val
- NP_001394780.1:p.Gly1001Val
- NP_001394781.1:p.Gly1001Val
- NP_001394782.1:p.Gly977Val
- NP_001394783.1:p.Gly1048Val
- NP_001394787.1:p.Gly1048Val
- NP_001394788.1:p.Gly1048Val
- NP_001394789.1:p.Gly1047Val
- NP_001394790.1:p.Gly1047Val
- NP_001394791.1:p.Gly981Val
- NP_001394792.1:p.Gly1007Val
- NP_001394803.1:p.Gly980Val
- NP_001394804.1:p.Gly980Val
- NP_001394808.1:p.Gly978Val
- NP_001394810.1:p.Gly978Val
- NP_001394811.1:p.Gly978Val
- NP_001394813.1:p.Gly978Val
- NP_001394814.1:p.Gly978Val
- NP_001394815.1:p.Gly978Val
- NP_001394816.1:p.Gly978Val
- NP_001394818.1:p.Gly978Val
- NP_001394823.1:p.Gly977Val
- NP_001394824.1:p.Gly977Val
- NP_001394825.1:p.Gly977Val
- NP_001394826.1:p.Gly977Val
- NP_001394827.1:p.Gly977Val
- NP_001394828.1:p.Gly977Val
- NP_001394829.1:p.Gly978Val
- NP_001394831.1:p.Gly978Val
- NP_001394833.1:p.Gly978Val
- NP_001394835.1:p.Gly978Val
- NP_001394836.1:p.Gly978Val
- NP_001394837.1:p.Gly978Val
- NP_001394838.1:p.Gly978Val
- NP_001394839.1:p.Gly978Val
- NP_001394844.1:p.Gly977Val
- NP_001394845.1:p.Gly977Val
- NP_001394846.1:p.Gly977Val
- NP_001394847.1:p.Gly977Val
- NP_001394848.1:p.Gly1007Val
- NP_001394849.1:p.Gly960Val
- NP_001394850.1:p.Gly960Val
- NP_001394851.1:p.Gly960Val
- NP_001394852.1:p.Gly960Val
- NP_001394853.1:p.Gly960Val
- NP_001394854.1:p.Gly960Val
- NP_001394855.1:p.Gly960Val
- NP_001394856.1:p.Gly960Val
- NP_001394857.1:p.Gly960Val
- NP_001394858.1:p.Gly960Val
- NP_001394859.1:p.Gly959Val
- NP_001394860.1:p.Gly959Val
- NP_001394861.1:p.Gly959Val
- NP_001394862.1:p.Gly960Val
- NP_001394863.1:p.Gly959Val
- NP_001394864.1:p.Gly960Val
- NP_001394865.1:p.Gly959Val
- NP_001394866.1:p.Gly1007Val
- NP_001394867.1:p.Gly1007Val
- NP_001394868.1:p.Gly1007Val
- NP_001394869.1:p.Gly1006Val
- NP_001394870.1:p.Gly1006Val
- NP_001394871.1:p.Gly1001Val
- NP_001394872.1:p.Gly1000Val
- NP_001394873.1:p.Gly1001Val
- NP_001394874.1:p.Gly1001Val
- NP_001394875.1:p.Gly937Val
- NP_001394876.1:p.Gly937Val
- NP_001394877.1:p.Gly937Val
- NP_001394878.1:p.Gly937Val
- NP_001394879.1:p.Gly937Val
- NP_001394880.1:p.Gly937Val
- NP_001394881.1:p.Gly937Val
- NP_001394882.1:p.Gly937Val
- NP_001394883.1:p.Gly936Val
- NP_001394884.1:p.Gly936Val
- NP_001394885.1:p.Gly936Val
- NP_001394886.1:p.Gly937Val
- NP_001394887.1:p.Gly936Val
- NP_001394888.1:p.Gly921Val
- NP_001394889.1:p.Gly921Val
- NP_001394891.1:p.Gly920Val
- NP_001394892.1:p.Gly921Val
- NP_001394893.1:p.Gly1000Val
- NP_001394894.1:p.Gly880Val
- NP_001394895.1:p.Gly752Val
- NP_001394896.1:p.Gly752Val
- NP_009225.1:p.Gly1048Val
- NP_009225.1:p.Gly1048Val
- NP_009228.2:p.Gly1001Val
- NP_009231.2:p.Gly1048Val
- LRG_292t1:c.3143G>T
- LRG_292:g.125596G>T
- LRG_292p1:p.Gly1048Val
- NC_000017.10:g.41244405C>A
- NM_007294.3:c.3143G>T
- NR_027676.1:n.3279G>T
- U14680.1:n.3262G>T
This HGVS expression did not pass validation- Protein change:
- G1000V
- Links:
- dbSNP: rs80356899
- NCBI 1000 Genomes Browser:
- rs80356899
- Molecular consequence:
- NM_001407968.1:c.788-249G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407969.1:c.788-249G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407970.1:c.788-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407971.1:c.788-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407972.1:c.785-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407973.1:c.788-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407974.1:c.788-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407975.1:c.788-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407976.1:c.788-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407977.1:c.788-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407978.1:c.788-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407979.1:c.788-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407980.1:c.788-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407981.1:c.788-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407982.1:c.788-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407983.1:c.788-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407984.1:c.785-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407985.1:c.785-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407986.1:c.785-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407990.1:c.788-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407991.1:c.785-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407992.1:c.785-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407993.1:c.788-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408392.1:c.785-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408396.1:c.785-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408397.1:c.785-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408398.1:c.785-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408399.1:c.785-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408400.1:c.785-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408401.1:c.785-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408402.1:c.785-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408403.1:c.788-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408404.1:c.788-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408406.1:c.791-1365G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408407.1:c.785-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408408.1:c.779-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408409.1:c.710-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408410.1:c.647-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408411.1:c.710-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408412.1:c.710-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408413.1:c.707-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408414.1:c.710-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408415.1:c.710-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408416.1:c.707-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408418.1:c.671-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408419.1:c.671-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408420.1:c.671-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408421.1:c.668-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408422.1:c.671-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408423.1:c.671-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408424.1:c.668-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408425.1:c.665-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408426.1:c.665-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408427.1:c.665-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408428.1:c.665-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408429.1:c.665-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408430.1:c.665-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408431.1:c.668-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408432.1:c.662-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408433.1:c.662-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408434.1:c.662-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408435.1:c.662-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408436.1:c.665-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408437.1:c.665-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408438.1:c.665-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408439.1:c.665-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408440.1:c.665-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408441.1:c.665-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408442.1:c.665-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408443.1:c.665-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408444.1:c.665-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408445.1:c.662-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408446.1:c.662-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408447.1:c.662-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408448.1:c.662-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408450.1:c.662-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408451.1:c.653-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408452.1:c.647-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408453.1:c.647-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408454.1:c.647-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408455.1:c.647-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408456.1:c.647-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408457.1:c.647-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408458.1:c.647-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408459.1:c.647-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408460.1:c.647-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408461.1:c.647-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408462.1:c.644-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408463.1:c.644-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408464.1:c.644-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408465.1:c.644-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408466.1:c.647-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408467.1:c.647-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408468.1:c.644-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408469.1:c.647-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408470.1:c.644-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408472.1:c.788-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408473.1:c.785-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408474.1:c.587-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408475.1:c.584-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408476.1:c.587-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408478.1:c.578-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408479.1:c.578-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408480.1:c.578-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408481.1:c.578-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408482.1:c.578-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408483.1:c.578-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408484.1:c.578-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408485.1:c.578-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408489.1:c.578-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408490.1:c.575-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408491.1:c.575-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408492.1:c.578-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408493.1:c.575-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408494.1:c.548-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408495.1:c.545-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408496.1:c.524-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408497.1:c.524-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408498.1:c.524-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408499.1:c.524-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408500.1:c.524-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408501.1:c.524-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408502.1:c.455-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408503.1:c.521-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408504.1:c.521-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408505.1:c.521-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408506.1:c.461-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408507.1:c.461-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408508.1:c.452-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408509.1:c.452-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408510.1:c.407-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408511.1:c.404-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408512.1:c.284-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408513.1:c.578-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408514.1:c.578-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_007298.4:c.788-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_007299.4:c.788-1356G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407571.1:c.2930G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407581.1:c.3143G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407582.1:c.3143G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407583.1:c.3143G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407585.1:c.3143G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407587.1:c.3140G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407590.1:c.3140G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407591.1:c.3140G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407593.1:c.3143G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407594.1:c.3143G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407596.1:c.3143G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407597.1:c.3143G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407598.1:c.3143G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407602.1:c.3143G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407603.1:c.3143G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407605.1:c.3143G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407610.1:c.3140G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407611.1:c.3140G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407612.1:c.3140G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407613.1:c.3140G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407614.1:c.3140G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407615.1:c.3140G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407616.1:c.3143G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407617.1:c.3143G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407618.1:c.3143G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407619.1:c.3143G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407620.1:c.3143G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407621.1:c.3143G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407622.1:c.3143G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407623.1:c.3143G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407624.1:c.3143G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407625.1:c.3143G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407626.1:c.3143G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407627.1:c.3140G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407628.1:c.3140G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407629.1:c.3140G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407630.1:c.3140G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407631.1:c.3140G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407632.1:c.3140G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407633.1:c.3140G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407634.1:c.3140G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407635.1:c.3140G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407636.1:c.3140G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407637.1:c.3140G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407638.1:c.3140G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407639.1:c.3143G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407640.1:c.3143G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407641.1:c.3143G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407642.1:c.3143G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407644.1:c.3140G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407645.1:c.3140G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407646.1:c.3134G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407647.1:c.3134G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407648.1:c.3020G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407649.1:c.3017G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407652.1:c.3143G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407653.1:c.3065G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407654.1:c.3065G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407655.1:c.3065G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407656.1:c.3065G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407657.1:c.3065G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407658.1:c.3065G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407659.1:c.3062G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407660.1:c.3062G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407661.1:c.3062G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407662.1:c.3062G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407663.1:c.3065G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407664.1:c.3020G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407665.1:c.3020G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407666.1:c.3020G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407667.1:c.3020G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407668.1:c.3020G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407669.1:c.3020G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407670.1:c.3017G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407671.1:c.3017G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407672.1:c.3017G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407673.1:c.3017G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407674.1:c.3020G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407675.1:c.3020G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407676.1:c.3020G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407677.1:c.3020G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407678.1:c.3020G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407679.1:c.3020G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407680.1:c.3020G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407681.1:c.3020G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407682.1:c.3020G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407683.1:c.3020G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407684.1:c.3143G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407685.1:c.3017G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407686.1:c.3017G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407687.1:c.3017G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407688.1:c.3017G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407689.1:c.3017G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407690.1:c.3017G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407691.1:c.3017G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407692.1:c.3002G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407694.1:c.3002G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407695.1:c.3002G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407696.1:c.3002G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407697.1:c.3002G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407698.1:c.3002G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407724.1:c.3002G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407725.1:c.3002G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407726.1:c.3002G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407727.1:c.3002G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407728.1:c.3002G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407729.1:c.3002G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407730.1:c.3002G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407731.1:c.3002G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407732.1:c.3002G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407733.1:c.3002G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407734.1:c.3002G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407735.1:c.3002G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407736.1:c.3002G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407737.1:c.3002G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407738.1:c.3002G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407739.1:c.3002G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407740.1:c.2999G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407741.1:c.2999G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407742.1:c.2999G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407743.1:c.2999G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407744.1:c.2999G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407745.1:c.2999G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407746.1:c.2999G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407747.1:c.2999G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407748.1:c.2999G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407749.1:c.2999G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407750.1:c.3002G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407751.1:c.3002G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407752.1:c.3002G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407838.1:c.2999G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407839.1:c.2999G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407841.1:c.2999G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407842.1:c.2999G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407843.1:c.2999G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407844.1:c.2999G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407845.1:c.2999G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407846.1:c.2999G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407847.1:c.2999G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407848.1:c.2999G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407849.1:c.2999G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407850.1:c.3002G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407851.1:c.3002G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407852.1:c.3002G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407853.1:c.2930G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407854.1:c.3143G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407858.1:c.3143G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407859.1:c.3143G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407860.1:c.3140G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407861.1:c.3140G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407862.1:c.2942G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407863.1:c.3020G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407874.1:c.2939G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407875.1:c.2939G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407879.1:c.2933G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407881.1:c.2933G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407882.1:c.2933G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407884.1:c.2933G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407885.1:c.2933G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407886.1:c.2933G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407887.1:c.2933G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407889.1:c.2933G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407894.1:c.2930G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407895.1:c.2930G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407896.1:c.2930G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407897.1:c.2930G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407898.1:c.2930G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407899.1:c.2930G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407900.1:c.2933G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407902.1:c.2933G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407904.1:c.2933G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407906.1:c.2933G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407907.1:c.2933G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407908.1:c.2933G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407909.1:c.2933G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407910.1:c.2933G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407915.1:c.2930G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407916.1:c.2930G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407917.1:c.2930G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407918.1:c.2930G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407919.1:c.3020G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407920.1:c.2879G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407921.1:c.2879G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407922.1:c.2879G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407923.1:c.2879G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407924.1:c.2879G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407925.1:c.2879G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407926.1:c.2879G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407927.1:c.2879G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407928.1:c.2879G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407929.1:c.2879G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407930.1:c.2876G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407931.1:c.2876G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407932.1:c.2876G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407933.1:c.2879G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407934.1:c.2876G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407935.1:c.2879G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407936.1:c.2876G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407937.1:c.3020G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407938.1:c.3020G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407939.1:c.3020G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407940.1:c.3017G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407941.1:c.3017G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407942.1:c.3002G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407943.1:c.2999G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407944.1:c.3002G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407945.1:c.3002G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407946.1:c.2810G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407947.1:c.2810G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407948.1:c.2810G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407949.1:c.2810G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407950.1:c.2810G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407951.1:c.2810G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407952.1:c.2810G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407953.1:c.2810G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407954.1:c.2807G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407955.1:c.2807G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407956.1:c.2807G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407957.1:c.2810G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407958.1:c.2807G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407959.1:c.2762G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407960.1:c.2762G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407962.1:c.2759G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407963.1:c.2762G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407964.1:c.2999G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407965.1:c.2639G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407966.1:c.2255G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407967.1:c.2255G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_007294.4:c.3143G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_007297.4:c.3002G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_007300.4:c.3143G>T - missense variant - [Sequence Ontology: SO:0001583]
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000210142 | GeneDx | criteria provided, single submitter (GeneDx Variant Classification (06012015)) | Uncertain significance (Aug 4, 2015) | germline | clinical testing | |
SCV000699006 | Women's Health and Genetics/Laboratory Corporation of America, LabCorp | criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015) | Uncertain significance (Feb 1, 2016) | germline | clinical testing | PubMed (3) LabCorp Variant Classification Summary - May 2015.docx, |
SCV002049680 | ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories | criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process 2021) | Likely benign (Oct 21, 2021) | germline | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | germline | yes | not provided | not provided | not provided | not provided | not provided | clinical testing |
not provided | germline | unknown | not provided | not provided | not provided | not provided | not provided | clinical testing |
Citations
PubMed
Rapid evolution of BRCA1 and BRCA2 in humans and other primates.
Lou DI, McBee RM, Le UQ, Stone AC, Wilkerson GK, Demogines AM, Sawyer SL.
BMC Evol Biol. 2014 Jul 11;14:155. doi: 10.1186/1471-2148-14-155.
- PMID:
- 25011685
- PMCID:
- PMC4106182
Walker LC, Whiley PJ, Houdayer C, Hansen TV, Vega A, Santamarina M, Blanco A, Fachal L, Southey MC, Lafferty A, Colombo M, De Vecchi G, Radice P, Spurdle AB; ENIGMA consortium..
Hum Mutat. 2013 Oct;34(10):1424-31. doi: 10.1002/humu.22388. Epub 2013 Aug 13.
- PMID:
- 23893897
Details of each submission
From GeneDx, SCV000210142.12
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
Description
This variant is denoted BRCA1 c.3143G>T at the cDNA level, p.Gly1048Val (G1048V) at the protein level, and results in the change of a Glycine to a Valine (GGT>GTT). Using alternate nomenclature, this variant would be defined as BRCA1 3262G>T. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA1 Gly1048Val was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Since Glycine and Valine share similar properties, this is considered a conservative amino acid substitution. BRCA1 Gly1048Val occurs at a position that is not conserved and is located within the DNA-binding domain and the region of interaction with RAD51 and BASC (UniProt). In silico analyses predict that this variant is unlikely to alter protein structure or function. Based on currently available information, it is unclear whether BRCA1 Gly1048Val is pathogenic or benign. We consider it to be a variant of uncertain significance.
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | yes | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000699006.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
# | 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 ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV002049680.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
# | 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: Mar 23, 2024