NM_007294.4(BRCA1):c.3082C>T (p.Arg1028Cys) AND Breast-ovarian cancer, familial, susceptibility to, 1
- Germline classification:
- Conflicting interpretations of pathogenicity (4 submissions)
- Last evaluated:
- May 28, 2019
- Review status:
- 3 stars out of maximum of 4 starsreviewed by expert panel
- 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:
- RCV000031087.26
Allele description [Variation Report for NM_007294.4(BRCA1):c.3082C>T (p.Arg1028Cys)]
NM_007294.4(BRCA1):c.3082C>T (p.Arg1028Cys)
- 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.3082C>T (p.Arg1028Cys)
- Other names:
- NM_007294.4(BRCA1):c.3082C>T; p.Arg1028Cys
- HGVS:
- NC_000017.11:g.43092449G>A
- NG_005905.2:g.125535C>T
- NM_001407571.1:c.2869C>T
- NM_001407581.1:c.3082C>T
- NM_001407582.1:c.3082C>T
- NM_001407583.1:c.3082C>T
- NM_001407585.1:c.3082C>T
- NM_001407587.1:c.3079C>T
- NM_001407590.1:c.3079C>T
- NM_001407591.1:c.3079C>T
- NM_001407593.1:c.3082C>T
- NM_001407594.1:c.3082C>T
- NM_001407596.1:c.3082C>T
- NM_001407597.1:c.3082C>T
- NM_001407598.1:c.3082C>T
- NM_001407602.1:c.3082C>T
- NM_001407603.1:c.3082C>T
- NM_001407605.1:c.3082C>T
- NM_001407610.1:c.3079C>T
- NM_001407611.1:c.3079C>T
- NM_001407612.1:c.3079C>T
- NM_001407613.1:c.3079C>T
- NM_001407614.1:c.3079C>T
- NM_001407615.1:c.3079C>T
- NM_001407616.1:c.3082C>T
- NM_001407617.1:c.3082C>T
- NM_001407618.1:c.3082C>T
- NM_001407619.1:c.3082C>T
- NM_001407620.1:c.3082C>T
- NM_001407621.1:c.3082C>T
- NM_001407622.1:c.3082C>T
- NM_001407623.1:c.3082C>T
- NM_001407624.1:c.3082C>T
- NM_001407625.1:c.3082C>T
- NM_001407626.1:c.3082C>T
- NM_001407627.1:c.3079C>T
- NM_001407628.1:c.3079C>T
- NM_001407629.1:c.3079C>T
- NM_001407630.1:c.3079C>T
- NM_001407631.1:c.3079C>T
- NM_001407632.1:c.3079C>T
- NM_001407633.1:c.3079C>T
- NM_001407634.1:c.3079C>T
- NM_001407635.1:c.3079C>T
- NM_001407636.1:c.3079C>T
- NM_001407637.1:c.3079C>T
- NM_001407638.1:c.3079C>T
- NM_001407639.1:c.3082C>T
- NM_001407640.1:c.3082C>T
- NM_001407641.1:c.3082C>T
- NM_001407642.1:c.3082C>T
- NM_001407644.1:c.3079C>T
- NM_001407645.1:c.3079C>T
- NM_001407646.1:c.3073C>T
- NM_001407647.1:c.3073C>T
- NM_001407648.1:c.2959C>T
- NM_001407649.1:c.2956C>T
- NM_001407652.1:c.3082C>T
- NM_001407653.1:c.3004C>T
- NM_001407654.1:c.3004C>T
- NM_001407655.1:c.3004C>T
- NM_001407656.1:c.3004C>T
- NM_001407657.1:c.3004C>T
- NM_001407658.1:c.3004C>T
- NM_001407659.1:c.3001C>T
- NM_001407660.1:c.3001C>T
- NM_001407661.1:c.3001C>T
- NM_001407662.1:c.3001C>T
- NM_001407663.1:c.3004C>T
- NM_001407664.1:c.2959C>T
- NM_001407665.1:c.2959C>T
- NM_001407666.1:c.2959C>T
- NM_001407667.1:c.2959C>T
- NM_001407668.1:c.2959C>T
- NM_001407669.1:c.2959C>T
- NM_001407670.1:c.2956C>T
- NM_001407671.1:c.2956C>T
- NM_001407672.1:c.2956C>T
- NM_001407673.1:c.2956C>T
- NM_001407674.1:c.2959C>T
- NM_001407675.1:c.2959C>T
- NM_001407676.1:c.2959C>T
- NM_001407677.1:c.2959C>T
- NM_001407678.1:c.2959C>T
- NM_001407679.1:c.2959C>T
- NM_001407680.1:c.2959C>T
- NM_001407681.1:c.2959C>T
- NM_001407682.1:c.2959C>T
- NM_001407683.1:c.2959C>T
- NM_001407684.1:c.3082C>T
- NM_001407685.1:c.2956C>T
- NM_001407686.1:c.2956C>T
- NM_001407687.1:c.2956C>T
- NM_001407688.1:c.2956C>T
- NM_001407689.1:c.2956C>T
- NM_001407690.1:c.2956C>T
- NM_001407691.1:c.2956C>T
- NM_001407692.1:c.2941C>T
- NM_001407694.1:c.2941C>T
- NM_001407695.1:c.2941C>T
- NM_001407696.1:c.2941C>T
- NM_001407697.1:c.2941C>T
- NM_001407698.1:c.2941C>T
- NM_001407724.1:c.2941C>T
- NM_001407725.1:c.2941C>T
- NM_001407726.1:c.2941C>T
- NM_001407727.1:c.2941C>T
- NM_001407728.1:c.2941C>T
- NM_001407729.1:c.2941C>T
- NM_001407730.1:c.2941C>T
- NM_001407731.1:c.2941C>T
- NM_001407732.1:c.2941C>T
- NM_001407733.1:c.2941C>T
- NM_001407734.1:c.2941C>T
- NM_001407735.1:c.2941C>T
- NM_001407736.1:c.2941C>T
- NM_001407737.1:c.2941C>T
- NM_001407738.1:c.2941C>T
- NM_001407739.1:c.2941C>T
- NM_001407740.1:c.2938C>T
- NM_001407741.1:c.2938C>T
- NM_001407742.1:c.2938C>T
- NM_001407743.1:c.2938C>T
- NM_001407744.1:c.2938C>T
- NM_001407745.1:c.2938C>T
- NM_001407746.1:c.2938C>T
- NM_001407747.1:c.2938C>T
- NM_001407748.1:c.2938C>T
- NM_001407749.1:c.2938C>T
- NM_001407750.1:c.2941C>T
- NM_001407751.1:c.2941C>T
- NM_001407752.1:c.2941C>T
- NM_001407838.1:c.2938C>T
- NM_001407839.1:c.2938C>T
- NM_001407841.1:c.2938C>T
- NM_001407842.1:c.2938C>T
- NM_001407843.1:c.2938C>T
- NM_001407844.1:c.2938C>T
- NM_001407845.1:c.2938C>T
- NM_001407846.1:c.2938C>T
- NM_001407847.1:c.2938C>T
- NM_001407848.1:c.2938C>T
- NM_001407849.1:c.2938C>T
- NM_001407850.1:c.2941C>T
- NM_001407851.1:c.2941C>T
- NM_001407852.1:c.2941C>T
- NM_001407853.1:c.2869C>T
- NM_001407854.1:c.3082C>T
- NM_001407858.1:c.3082C>T
- NM_001407859.1:c.3082C>T
- NM_001407860.1:c.3079C>T
- NM_001407861.1:c.3079C>T
- NM_001407862.1:c.2881C>T
- NM_001407863.1:c.2959C>T
- NM_001407874.1:c.2878C>T
- NM_001407875.1:c.2878C>T
- NM_001407879.1:c.2872C>T
- NM_001407881.1:c.2872C>T
- NM_001407882.1:c.2872C>T
- NM_001407884.1:c.2872C>T
- NM_001407885.1:c.2872C>T
- NM_001407886.1:c.2872C>T
- NM_001407887.1:c.2872C>T
- NM_001407889.1:c.2872C>T
- NM_001407894.1:c.2869C>T
- NM_001407895.1:c.2869C>T
- NM_001407896.1:c.2869C>T
- NM_001407897.1:c.2869C>T
- NM_001407898.1:c.2869C>T
- NM_001407899.1:c.2869C>T
- NM_001407900.1:c.2872C>T
- NM_001407902.1:c.2872C>T
- NM_001407904.1:c.2872C>T
- NM_001407906.1:c.2872C>T
- NM_001407907.1:c.2872C>T
- NM_001407908.1:c.2872C>T
- NM_001407909.1:c.2872C>T
- NM_001407910.1:c.2872C>T
- NM_001407915.1:c.2869C>T
- NM_001407916.1:c.2869C>T
- NM_001407917.1:c.2869C>T
- NM_001407918.1:c.2869C>T
- NM_001407919.1:c.2959C>T
- NM_001407920.1:c.2818C>T
- NM_001407921.1:c.2818C>T
- NM_001407922.1:c.2818C>T
- NM_001407923.1:c.2818C>T
- NM_001407924.1:c.2818C>T
- NM_001407925.1:c.2818C>T
- NM_001407926.1:c.2818C>T
- NM_001407927.1:c.2818C>T
- NM_001407928.1:c.2818C>T
- NM_001407929.1:c.2818C>T
- NM_001407930.1:c.2815C>T
- NM_001407931.1:c.2815C>T
- NM_001407932.1:c.2815C>T
- NM_001407933.1:c.2818C>T
- NM_001407934.1:c.2815C>T
- NM_001407935.1:c.2818C>T
- NM_001407936.1:c.2815C>T
- NM_001407937.1:c.2959C>T
- NM_001407938.1:c.2959C>T
- NM_001407939.1:c.2959C>T
- NM_001407940.1:c.2956C>T
- NM_001407941.1:c.2956C>T
- NM_001407942.1:c.2941C>T
- NM_001407943.1:c.2938C>T
- NM_001407944.1:c.2941C>T
- NM_001407945.1:c.2941C>T
- NM_001407946.1:c.2749C>T
- NM_001407947.1:c.2749C>T
- NM_001407948.1:c.2749C>T
- NM_001407949.1:c.2749C>T
- NM_001407950.1:c.2749C>T
- NM_001407951.1:c.2749C>T
- NM_001407952.1:c.2749C>T
- NM_001407953.1:c.2749C>T
- NM_001407954.1:c.2746C>T
- NM_001407955.1:c.2746C>T
- NM_001407956.1:c.2746C>T
- NM_001407957.1:c.2749C>T
- NM_001407958.1:c.2746C>T
- NM_001407959.1:c.2701C>T
- NM_001407960.1:c.2701C>T
- NM_001407962.1:c.2698C>T
- NM_001407963.1:c.2701C>T
- NM_001407964.1:c.2938C>T
- NM_001407965.1:c.2578C>T
- NM_001407966.1:c.2194C>T
- NM_001407967.1:c.2194C>T
- NM_001407968.1:c.788-310C>T
- NM_001407969.1:c.788-310C>T
- NM_001407970.1:c.788-1417C>T
- NM_001407971.1:c.788-1417C>T
- NM_001407972.1:c.785-1417C>T
- NM_001407973.1:c.788-1417C>T
- NM_001407974.1:c.788-1417C>T
- NM_001407975.1:c.788-1417C>T
- NM_001407976.1:c.788-1417C>T
- NM_001407977.1:c.788-1417C>T
- NM_001407978.1:c.788-1417C>T
- NM_001407979.1:c.788-1417C>T
- NM_001407980.1:c.788-1417C>T
- NM_001407981.1:c.788-1417C>T
- NM_001407982.1:c.788-1417C>T
- NM_001407983.1:c.788-1417C>T
- NM_001407984.1:c.785-1417C>T
- NM_001407985.1:c.785-1417C>T
- NM_001407986.1:c.785-1417C>T
- NM_001407990.1:c.788-1417C>T
- NM_001407991.1:c.785-1417C>T
- NM_001407992.1:c.785-1417C>T
- NM_001407993.1:c.788-1417C>T
- NM_001408392.1:c.785-1417C>T
- NM_001408396.1:c.785-1417C>T
- NM_001408397.1:c.785-1417C>T
- NM_001408398.1:c.785-1417C>T
- NM_001408399.1:c.785-1417C>T
- NM_001408400.1:c.785-1417C>T
- NM_001408401.1:c.785-1417C>T
- NM_001408402.1:c.785-1417C>T
- NM_001408403.1:c.788-1417C>T
- NM_001408404.1:c.788-1417C>T
- NM_001408406.1:c.791-1426C>T
- NM_001408407.1:c.785-1417C>T
- NM_001408408.1:c.779-1417C>T
- NM_001408409.1:c.710-1417C>T
- NM_001408410.1:c.647-1417C>T
- NM_001408411.1:c.710-1417C>T
- NM_001408412.1:c.710-1417C>T
- NM_001408413.1:c.707-1417C>T
- NM_001408414.1:c.710-1417C>T
- NM_001408415.1:c.710-1417C>T
- NM_001408416.1:c.707-1417C>T
- NM_001408418.1:c.671-1417C>T
- NM_001408419.1:c.671-1417C>T
- NM_001408420.1:c.671-1417C>T
- NM_001408421.1:c.668-1417C>T
- NM_001408422.1:c.671-1417C>T
- NM_001408423.1:c.671-1417C>T
- NM_001408424.1:c.668-1417C>T
- NM_001408425.1:c.665-1417C>T
- NM_001408426.1:c.665-1417C>T
- NM_001408427.1:c.665-1417C>T
- NM_001408428.1:c.665-1417C>T
- NM_001408429.1:c.665-1417C>T
- NM_001408430.1:c.665-1417C>T
- NM_001408431.1:c.668-1417C>T
- NM_001408432.1:c.662-1417C>T
- NM_001408433.1:c.662-1417C>T
- NM_001408434.1:c.662-1417C>T
- NM_001408435.1:c.662-1417C>T
- NM_001408436.1:c.665-1417C>T
- NM_001408437.1:c.665-1417C>T
- NM_001408438.1:c.665-1417C>T
- NM_001408439.1:c.665-1417C>T
- NM_001408440.1:c.665-1417C>T
- NM_001408441.1:c.665-1417C>T
- NM_001408442.1:c.665-1417C>T
- NM_001408443.1:c.665-1417C>T
- NM_001408444.1:c.665-1417C>T
- NM_001408445.1:c.662-1417C>T
- NM_001408446.1:c.662-1417C>T
- NM_001408447.1:c.662-1417C>T
- NM_001408448.1:c.662-1417C>T
- NM_001408450.1:c.662-1417C>T
- NM_001408451.1:c.653-1417C>T
- NM_001408452.1:c.647-1417C>T
- NM_001408453.1:c.647-1417C>T
- NM_001408454.1:c.647-1417C>T
- NM_001408455.1:c.647-1417C>T
- NM_001408456.1:c.647-1417C>T
- NM_001408457.1:c.647-1417C>T
- NM_001408458.1:c.647-1417C>T
- NM_001408459.1:c.647-1417C>T
- NM_001408460.1:c.647-1417C>T
- NM_001408461.1:c.647-1417C>T
- NM_001408462.1:c.644-1417C>T
- NM_001408463.1:c.644-1417C>T
- NM_001408464.1:c.644-1417C>T
- NM_001408465.1:c.644-1417C>T
- NM_001408466.1:c.647-1417C>T
- NM_001408467.1:c.647-1417C>T
- NM_001408468.1:c.644-1417C>T
- NM_001408469.1:c.647-1417C>T
- NM_001408470.1:c.644-1417C>T
- NM_001408472.1:c.788-1417C>T
- NM_001408473.1:c.785-1417C>T
- NM_001408474.1:c.587-1417C>T
- NM_001408475.1:c.584-1417C>T
- NM_001408476.1:c.587-1417C>T
- NM_001408478.1:c.578-1417C>T
- NM_001408479.1:c.578-1417C>T
- NM_001408480.1:c.578-1417C>T
- NM_001408481.1:c.578-1417C>T
- NM_001408482.1:c.578-1417C>T
- NM_001408483.1:c.578-1417C>T
- NM_001408484.1:c.578-1417C>T
- NM_001408485.1:c.578-1417C>T
- NM_001408489.1:c.578-1417C>T
- NM_001408490.1:c.575-1417C>T
- NM_001408491.1:c.575-1417C>T
- NM_001408492.1:c.578-1417C>T
- NM_001408493.1:c.575-1417C>T
- NM_001408494.1:c.548-1417C>T
- NM_001408495.1:c.545-1417C>T
- NM_001408496.1:c.524-1417C>T
- NM_001408497.1:c.524-1417C>T
- NM_001408498.1:c.524-1417C>T
- NM_001408499.1:c.524-1417C>T
- NM_001408500.1:c.524-1417C>T
- NM_001408501.1:c.524-1417C>T
- NM_001408502.1:c.455-1417C>T
- NM_001408503.1:c.521-1417C>T
- NM_001408504.1:c.521-1417C>T
- NM_001408505.1:c.521-1417C>T
- NM_001408506.1:c.461-1417C>T
- NM_001408507.1:c.461-1417C>T
- NM_001408508.1:c.452-1417C>T
- NM_001408509.1:c.452-1417C>T
- NM_001408510.1:c.407-1417C>T
- NM_001408511.1:c.404-1417C>T
- NM_001408512.1:c.284-1417C>T
- NM_001408513.1:c.578-1417C>T
- NM_001408514.1:c.578-1417C>T
- NM_007294.4:c.3082C>TMANE SELECT
- NM_007297.4:c.2941C>T
- NM_007298.4:c.788-1417C>T
- NM_007299.4:c.788-1417C>T
- NM_007300.4:c.3082C>T
- NP_001394500.1:p.Arg957Cys
- NP_001394510.1:p.Arg1028Cys
- NP_001394511.1:p.Arg1028Cys
- NP_001394512.1:p.Arg1028Cys
- NP_001394514.1:p.Arg1028Cys
- NP_001394516.1:p.Arg1027Cys
- NP_001394519.1:p.Arg1027Cys
- NP_001394520.1:p.Arg1027Cys
- NP_001394522.1:p.Arg1028Cys
- NP_001394523.1:p.Arg1028Cys
- NP_001394525.1:p.Arg1028Cys
- NP_001394526.1:p.Arg1028Cys
- NP_001394527.1:p.Arg1028Cys
- NP_001394531.1:p.Arg1028Cys
- NP_001394532.1:p.Arg1028Cys
- NP_001394534.1:p.Arg1028Cys
- NP_001394539.1:p.Arg1027Cys
- NP_001394540.1:p.Arg1027Cys
- NP_001394541.1:p.Arg1027Cys
- NP_001394542.1:p.Arg1027Cys
- NP_001394543.1:p.Arg1027Cys
- NP_001394544.1:p.Arg1027Cys
- NP_001394545.1:p.Arg1028Cys
- NP_001394546.1:p.Arg1028Cys
- NP_001394547.1:p.Arg1028Cys
- NP_001394548.1:p.Arg1028Cys
- NP_001394549.1:p.Arg1028Cys
- NP_001394550.1:p.Arg1028Cys
- NP_001394551.1:p.Arg1028Cys
- NP_001394552.1:p.Arg1028Cys
- NP_001394553.1:p.Arg1028Cys
- NP_001394554.1:p.Arg1028Cys
- NP_001394555.1:p.Arg1028Cys
- NP_001394556.1:p.Arg1027Cys
- NP_001394557.1:p.Arg1027Cys
- NP_001394558.1:p.Arg1027Cys
- NP_001394559.1:p.Arg1027Cys
- NP_001394560.1:p.Arg1027Cys
- NP_001394561.1:p.Arg1027Cys
- NP_001394562.1:p.Arg1027Cys
- NP_001394563.1:p.Arg1027Cys
- NP_001394564.1:p.Arg1027Cys
- NP_001394565.1:p.Arg1027Cys
- NP_001394566.1:p.Arg1027Cys
- NP_001394567.1:p.Arg1027Cys
- NP_001394568.1:p.Arg1028Cys
- NP_001394569.1:p.Arg1028Cys
- NP_001394570.1:p.Arg1028Cys
- NP_001394571.1:p.Arg1028Cys
- NP_001394573.1:p.Arg1027Cys
- NP_001394574.1:p.Arg1027Cys
- NP_001394575.1:p.Arg1025Cys
- NP_001394576.1:p.Arg1025Cys
- NP_001394577.1:p.Arg987Cys
- NP_001394578.1:p.Arg986Cys
- NP_001394581.1:p.Arg1028Cys
- NP_001394582.1:p.Arg1002Cys
- NP_001394583.1:p.Arg1002Cys
- NP_001394584.1:p.Arg1002Cys
- NP_001394585.1:p.Arg1002Cys
- NP_001394586.1:p.Arg1002Cys
- NP_001394587.1:p.Arg1002Cys
- NP_001394588.1:p.Arg1001Cys
- NP_001394589.1:p.Arg1001Cys
- NP_001394590.1:p.Arg1001Cys
- NP_001394591.1:p.Arg1001Cys
- NP_001394592.1:p.Arg1002Cys
- NP_001394593.1:p.Arg987Cys
- NP_001394594.1:p.Arg987Cys
- NP_001394595.1:p.Arg987Cys
- NP_001394596.1:p.Arg987Cys
- NP_001394597.1:p.Arg987Cys
- NP_001394598.1:p.Arg987Cys
- NP_001394599.1:p.Arg986Cys
- NP_001394600.1:p.Arg986Cys
- NP_001394601.1:p.Arg986Cys
- NP_001394602.1:p.Arg986Cys
- NP_001394603.1:p.Arg987Cys
- NP_001394604.1:p.Arg987Cys
- NP_001394605.1:p.Arg987Cys
- NP_001394606.1:p.Arg987Cys
- NP_001394607.1:p.Arg987Cys
- NP_001394608.1:p.Arg987Cys
- NP_001394609.1:p.Arg987Cys
- NP_001394610.1:p.Arg987Cys
- NP_001394611.1:p.Arg987Cys
- NP_001394612.1:p.Arg987Cys
- NP_001394613.1:p.Arg1028Cys
- NP_001394614.1:p.Arg986Cys
- NP_001394615.1:p.Arg986Cys
- NP_001394616.1:p.Arg986Cys
- NP_001394617.1:p.Arg986Cys
- NP_001394618.1:p.Arg986Cys
- NP_001394619.1:p.Arg986Cys
- NP_001394620.1:p.Arg986Cys
- NP_001394621.1:p.Arg981Cys
- NP_001394623.1:p.Arg981Cys
- NP_001394624.1:p.Arg981Cys
- NP_001394625.1:p.Arg981Cys
- NP_001394626.1:p.Arg981Cys
- NP_001394627.1:p.Arg981Cys
- NP_001394653.1:p.Arg981Cys
- NP_001394654.1:p.Arg981Cys
- NP_001394655.1:p.Arg981Cys
- NP_001394656.1:p.Arg981Cys
- NP_001394657.1:p.Arg981Cys
- NP_001394658.1:p.Arg981Cys
- NP_001394659.1:p.Arg981Cys
- NP_001394660.1:p.Arg981Cys
- NP_001394661.1:p.Arg981Cys
- NP_001394662.1:p.Arg981Cys
- NP_001394663.1:p.Arg981Cys
- NP_001394664.1:p.Arg981Cys
- NP_001394665.1:p.Arg981Cys
- NP_001394666.1:p.Arg981Cys
- NP_001394667.1:p.Arg981Cys
- NP_001394668.1:p.Arg981Cys
- NP_001394669.1:p.Arg980Cys
- NP_001394670.1:p.Arg980Cys
- NP_001394671.1:p.Arg980Cys
- NP_001394672.1:p.Arg980Cys
- NP_001394673.1:p.Arg980Cys
- NP_001394674.1:p.Arg980Cys
- NP_001394675.1:p.Arg980Cys
- NP_001394676.1:p.Arg980Cys
- NP_001394677.1:p.Arg980Cys
- NP_001394678.1:p.Arg980Cys
- NP_001394679.1:p.Arg981Cys
- NP_001394680.1:p.Arg981Cys
- NP_001394681.1:p.Arg981Cys
- NP_001394767.1:p.Arg980Cys
- NP_001394768.1:p.Arg980Cys
- NP_001394770.1:p.Arg980Cys
- NP_001394771.1:p.Arg980Cys
- NP_001394772.1:p.Arg980Cys
- NP_001394773.1:p.Arg980Cys
- NP_001394774.1:p.Arg980Cys
- NP_001394775.1:p.Arg980Cys
- NP_001394776.1:p.Arg980Cys
- NP_001394777.1:p.Arg980Cys
- NP_001394778.1:p.Arg980Cys
- NP_001394779.1:p.Arg981Cys
- NP_001394780.1:p.Arg981Cys
- NP_001394781.1:p.Arg981Cys
- NP_001394782.1:p.Arg957Cys
- NP_001394783.1:p.Arg1028Cys
- NP_001394787.1:p.Arg1028Cys
- NP_001394788.1:p.Arg1028Cys
- NP_001394789.1:p.Arg1027Cys
- NP_001394790.1:p.Arg1027Cys
- NP_001394791.1:p.Arg961Cys
- NP_001394792.1:p.Arg987Cys
- NP_001394803.1:p.Arg960Cys
- NP_001394804.1:p.Arg960Cys
- NP_001394808.1:p.Arg958Cys
- NP_001394810.1:p.Arg958Cys
- NP_001394811.1:p.Arg958Cys
- NP_001394813.1:p.Arg958Cys
- NP_001394814.1:p.Arg958Cys
- NP_001394815.1:p.Arg958Cys
- NP_001394816.1:p.Arg958Cys
- NP_001394818.1:p.Arg958Cys
- NP_001394823.1:p.Arg957Cys
- NP_001394824.1:p.Arg957Cys
- NP_001394825.1:p.Arg957Cys
- NP_001394826.1:p.Arg957Cys
- NP_001394827.1:p.Arg957Cys
- NP_001394828.1:p.Arg957Cys
- NP_001394829.1:p.Arg958Cys
- NP_001394831.1:p.Arg958Cys
- NP_001394833.1:p.Arg958Cys
- NP_001394835.1:p.Arg958Cys
- NP_001394836.1:p.Arg958Cys
- NP_001394837.1:p.Arg958Cys
- NP_001394838.1:p.Arg958Cys
- NP_001394839.1:p.Arg958Cys
- NP_001394844.1:p.Arg957Cys
- NP_001394845.1:p.Arg957Cys
- NP_001394846.1:p.Arg957Cys
- NP_001394847.1:p.Arg957Cys
- NP_001394848.1:p.Arg987Cys
- NP_001394849.1:p.Arg940Cys
- NP_001394850.1:p.Arg940Cys
- NP_001394851.1:p.Arg940Cys
- NP_001394852.1:p.Arg940Cys
- NP_001394853.1:p.Arg940Cys
- NP_001394854.1:p.Arg940Cys
- NP_001394855.1:p.Arg940Cys
- NP_001394856.1:p.Arg940Cys
- NP_001394857.1:p.Arg940Cys
- NP_001394858.1:p.Arg940Cys
- NP_001394859.1:p.Arg939Cys
- NP_001394860.1:p.Arg939Cys
- NP_001394861.1:p.Arg939Cys
- NP_001394862.1:p.Arg940Cys
- NP_001394863.1:p.Arg939Cys
- NP_001394864.1:p.Arg940Cys
- NP_001394865.1:p.Arg939Cys
- NP_001394866.1:p.Arg987Cys
- NP_001394867.1:p.Arg987Cys
- NP_001394868.1:p.Arg987Cys
- NP_001394869.1:p.Arg986Cys
- NP_001394870.1:p.Arg986Cys
- NP_001394871.1:p.Arg981Cys
- NP_001394872.1:p.Arg980Cys
- NP_001394873.1:p.Arg981Cys
- NP_001394874.1:p.Arg981Cys
- NP_001394875.1:p.Arg917Cys
- NP_001394876.1:p.Arg917Cys
- NP_001394877.1:p.Arg917Cys
- NP_001394878.1:p.Arg917Cys
- NP_001394879.1:p.Arg917Cys
- NP_001394880.1:p.Arg917Cys
- NP_001394881.1:p.Arg917Cys
- NP_001394882.1:p.Arg917Cys
- NP_001394883.1:p.Arg916Cys
- NP_001394884.1:p.Arg916Cys
- NP_001394885.1:p.Arg916Cys
- NP_001394886.1:p.Arg917Cys
- NP_001394887.1:p.Arg916Cys
- NP_001394888.1:p.Arg901Cys
- NP_001394889.1:p.Arg901Cys
- NP_001394891.1:p.Arg900Cys
- NP_001394892.1:p.Arg901Cys
- NP_001394893.1:p.Arg980Cys
- NP_001394894.1:p.Arg860Cys
- NP_001394895.1:p.Arg732Cys
- NP_001394896.1:p.Arg732Cys
- NP_009225.1:p.Arg1028Cys
- NP_009225.1:p.Arg1028Cys
- NP_009228.2:p.Arg981Cys
- NP_009231.2:p.Arg1028Cys
- LRG_292t1:c.3082C>T
- LRG_292:g.125535C>T
- LRG_292p1:p.Arg1028Cys
- NC_000017.10:g.41244466G>A
- NM_007294.3:c.3082C>T
- NR_027676.1:n.3218C>T
- U14680.1:n.3201C>T
- p.R1028C
This HGVS expression did not pass validation- Nucleotide change:
- 3201C>T
- Protein change:
- R1001C
- Links:
- dbSNP: rs80357049
- NCBI 1000 Genomes Browser:
- rs80357049
- Molecular consequence:
- NM_001407968.1:c.788-310C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407969.1:c.788-310C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407970.1:c.788-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407971.1:c.788-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407972.1:c.785-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407973.1:c.788-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407974.1:c.788-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407975.1:c.788-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407976.1:c.788-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407977.1:c.788-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407978.1:c.788-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407979.1:c.788-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407980.1:c.788-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407981.1:c.788-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407982.1:c.788-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407983.1:c.788-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407984.1:c.785-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407985.1:c.785-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407986.1:c.785-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407990.1:c.788-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407991.1:c.785-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407992.1:c.785-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407993.1:c.788-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408392.1:c.785-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408396.1:c.785-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408397.1:c.785-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408398.1:c.785-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408399.1:c.785-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408400.1:c.785-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408401.1:c.785-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408402.1:c.785-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408403.1:c.788-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408404.1:c.788-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408406.1:c.791-1426C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408407.1:c.785-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408408.1:c.779-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408409.1:c.710-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408410.1:c.647-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408411.1:c.710-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408412.1:c.710-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408413.1:c.707-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408414.1:c.710-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408415.1:c.710-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408416.1:c.707-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408418.1:c.671-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408419.1:c.671-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408420.1:c.671-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408421.1:c.668-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408422.1:c.671-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408423.1:c.671-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408424.1:c.668-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408425.1:c.665-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408426.1:c.665-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408427.1:c.665-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408428.1:c.665-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408429.1:c.665-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408430.1:c.665-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408431.1:c.668-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408432.1:c.662-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408433.1:c.662-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408434.1:c.662-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408435.1:c.662-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408436.1:c.665-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408437.1:c.665-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408438.1:c.665-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408439.1:c.665-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408440.1:c.665-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408441.1:c.665-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408442.1:c.665-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408443.1:c.665-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408444.1:c.665-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408445.1:c.662-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408446.1:c.662-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408447.1:c.662-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408448.1:c.662-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408450.1:c.662-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408451.1:c.653-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408452.1:c.647-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408453.1:c.647-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408454.1:c.647-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408455.1:c.647-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408456.1:c.647-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408457.1:c.647-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408458.1:c.647-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408459.1:c.647-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408460.1:c.647-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408461.1:c.647-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408462.1:c.644-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408463.1:c.644-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408464.1:c.644-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408465.1:c.644-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408466.1:c.647-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408467.1:c.647-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408468.1:c.644-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408469.1:c.647-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408470.1:c.644-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408472.1:c.788-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408473.1:c.785-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408474.1:c.587-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408475.1:c.584-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408476.1:c.587-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408478.1:c.578-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408479.1:c.578-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408480.1:c.578-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408481.1:c.578-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408482.1:c.578-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408483.1:c.578-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408484.1:c.578-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408485.1:c.578-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408489.1:c.578-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408490.1:c.575-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408491.1:c.575-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408492.1:c.578-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408493.1:c.575-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408494.1:c.548-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408495.1:c.545-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408496.1:c.524-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408497.1:c.524-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408498.1:c.524-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408499.1:c.524-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408500.1:c.524-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408501.1:c.524-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408502.1:c.455-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408503.1:c.521-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408504.1:c.521-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408505.1:c.521-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408506.1:c.461-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408507.1:c.461-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408508.1:c.452-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408509.1:c.452-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408510.1:c.407-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408511.1:c.404-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408512.1:c.284-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408513.1:c.578-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408514.1:c.578-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_007298.4:c.788-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_007299.4:c.788-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407571.1:c.2869C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407581.1:c.3082C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407582.1:c.3082C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407583.1:c.3082C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407585.1:c.3082C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407587.1:c.3079C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407590.1:c.3079C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407591.1:c.3079C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407593.1:c.3082C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407594.1:c.3082C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407596.1:c.3082C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407597.1:c.3082C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407598.1:c.3082C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407602.1:c.3082C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407603.1:c.3082C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407605.1:c.3082C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407610.1:c.3079C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407611.1:c.3079C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407612.1:c.3079C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407613.1:c.3079C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407614.1:c.3079C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407615.1:c.3079C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407616.1:c.3082C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407617.1:c.3082C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407618.1:c.3082C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407619.1:c.3082C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407620.1:c.3082C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407621.1:c.3082C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407622.1:c.3082C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407623.1:c.3082C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407624.1:c.3082C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407625.1:c.3082C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407626.1:c.3082C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407627.1:c.3079C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407628.1:c.3079C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407629.1:c.3079C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407630.1:c.3079C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407631.1:c.3079C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407632.1:c.3079C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407633.1:c.3079C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407634.1:c.3079C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407635.1:c.3079C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407636.1:c.3079C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407637.1:c.3079C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407638.1:c.3079C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407639.1:c.3082C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407640.1:c.3082C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407641.1:c.3082C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407642.1:c.3082C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407644.1:c.3079C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407645.1:c.3079C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407646.1:c.3073C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407647.1:c.3073C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407648.1:c.2959C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407649.1:c.2956C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407652.1:c.3082C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407653.1:c.3004C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407654.1:c.3004C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407655.1:c.3004C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407656.1:c.3004C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407657.1:c.3004C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407658.1:c.3004C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407659.1:c.3001C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407660.1:c.3001C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407661.1:c.3001C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407662.1:c.3001C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407663.1:c.3004C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407664.1:c.2959C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407665.1:c.2959C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407666.1:c.2959C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407667.1:c.2959C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407668.1:c.2959C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407669.1:c.2959C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407670.1:c.2956C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407671.1:c.2956C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407672.1:c.2956C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407673.1:c.2956C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407674.1:c.2959C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407675.1:c.2959C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407676.1:c.2959C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407677.1:c.2959C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407678.1:c.2959C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407679.1:c.2959C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407680.1:c.2959C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407681.1:c.2959C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407682.1:c.2959C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407683.1:c.2959C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407684.1:c.3082C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407685.1:c.2956C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407686.1:c.2956C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407687.1:c.2956C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407688.1:c.2956C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407689.1:c.2956C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407690.1:c.2956C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407691.1:c.2956C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407692.1:c.2941C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407694.1:c.2941C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407695.1:c.2941C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407696.1:c.2941C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407697.1:c.2941C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407698.1:c.2941C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407724.1:c.2941C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407725.1:c.2941C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407726.1:c.2941C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407727.1:c.2941C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407728.1:c.2941C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407729.1:c.2941C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407730.1:c.2941C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407731.1:c.2941C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407732.1:c.2941C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407733.1:c.2941C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407734.1:c.2941C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407735.1:c.2941C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407736.1:c.2941C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407737.1:c.2941C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407738.1:c.2941C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407739.1:c.2941C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407740.1:c.2938C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407741.1:c.2938C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407742.1:c.2938C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407743.1:c.2938C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407744.1:c.2938C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407745.1:c.2938C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407746.1:c.2938C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407747.1:c.2938C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407748.1:c.2938C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407749.1:c.2938C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407750.1:c.2941C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407751.1:c.2941C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407752.1:c.2941C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407838.1:c.2938C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407839.1:c.2938C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407841.1:c.2938C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407842.1:c.2938C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407843.1:c.2938C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407844.1:c.2938C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407845.1:c.2938C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407846.1:c.2938C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407847.1:c.2938C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407848.1:c.2938C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407849.1:c.2938C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407850.1:c.2941C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407851.1:c.2941C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407852.1:c.2941C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407853.1:c.2869C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407854.1:c.3082C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407858.1:c.3082C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407859.1:c.3082C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407860.1:c.3079C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407861.1:c.3079C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407862.1:c.2881C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407863.1:c.2959C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407874.1:c.2878C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407875.1:c.2878C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407879.1:c.2872C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407881.1:c.2872C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407882.1:c.2872C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407884.1:c.2872C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407885.1:c.2872C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407886.1:c.2872C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407887.1:c.2872C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407889.1:c.2872C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407894.1:c.2869C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407895.1:c.2869C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407896.1:c.2869C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407897.1:c.2869C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407898.1:c.2869C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407899.1:c.2869C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407900.1:c.2872C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407902.1:c.2872C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407904.1:c.2872C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407906.1:c.2872C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407907.1:c.2872C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407908.1:c.2872C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407909.1:c.2872C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407910.1:c.2872C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407915.1:c.2869C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407916.1:c.2869C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407917.1:c.2869C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407918.1:c.2869C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407919.1:c.2959C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407920.1:c.2818C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407921.1:c.2818C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407922.1:c.2818C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407923.1:c.2818C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407924.1:c.2818C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407925.1:c.2818C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407926.1:c.2818C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407927.1:c.2818C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407928.1:c.2818C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407929.1:c.2818C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407930.1:c.2815C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407931.1:c.2815C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407932.1:c.2815C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407933.1:c.2818C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407934.1:c.2815C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407935.1:c.2818C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407936.1:c.2815C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407937.1:c.2959C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407938.1:c.2959C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407939.1:c.2959C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407940.1:c.2956C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407941.1:c.2956C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407942.1:c.2941C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407943.1:c.2938C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407944.1:c.2941C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407945.1:c.2941C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407946.1:c.2749C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407947.1:c.2749C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407948.1:c.2749C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407949.1:c.2749C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407950.1:c.2749C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407951.1:c.2749C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407952.1:c.2749C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407953.1:c.2749C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407954.1:c.2746C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407955.1:c.2746C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407956.1:c.2746C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407957.1:c.2749C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407958.1:c.2746C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407959.1:c.2701C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407960.1:c.2701C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407962.1:c.2698C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407963.1:c.2701C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407964.1:c.2938C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407965.1:c.2578C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407966.1:c.2194C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407967.1:c.2194C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_007294.4:c.3082C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_007297.4:c.2941C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_007300.4:c.3082C>T - missense variant - [Sequence Ontology: SO:0001583]
- Observations:
- 8
Condition(s)
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000053683 | Sharing Clinical Reports Project (SCRP) | no assertion criteria provided | Likely benign (May 1, 2012) | germline | clinical testing | |
SCV000144629 | Breast Cancer Information Core (BIC) (BRCA1) | no assertion criteria provided | Uncertain significance (Feb 20, 2004) | germline | clinical testing | |
SCV001140561 | Mendelics | criteria provided, single submitter (Mendelics Assertion Criteria 2017) | Likely benign (May 28, 2019) | unknown | clinical testing | |
SCV001287308 | Illumina Laboratory Services, Illumina | criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019) | Uncertain significance (Apr 27, 2017) | germline | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | germline | yes | 2 | 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 |
not provided | unknown | unknown | not provided | not provided | not provided | not provided | not provided | clinical testing |
not provided | germline | not provided | 3 | not provided | not provided | 3 | not provided | clinical testing |
Western European | germline | yes | 3 | not provided | not provided | not provided | not provided | clinical testing |
Citations
PubMed
Vail PJ, Morris B, van Kan A, Burdett BC, Moyes K, Theisen A, Kerr ID, Wenstrup RJ, Eggington JM.
J Community Genet. 2015 Oct;6(4):351-9. doi: 10.1007/s12687-015-0220-x. Epub 2015 Mar 18.
PubMed [citation]
- PMID:
- 25782689
- PMCID:
- PMC4567983
Details of each submission
From Sharing Clinical Reports Project (SCRP), SCV000053683.6
# | 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 | not provided | 3 | not provided | not provided | not provided | not provided | not provided | not provided |
From Breast Cancer Information Core (BIC) (BRCA1), SCV000144629.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | 2 | not provided | not provided | clinical testing | not provided |
2 | Western European | 3 | 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 | yes | not provided | not provided | not provided | 2 | not provided | not provided | not provided | |
2 | germline | yes | not provided | not provided | not provided | 3 | not provided | not provided | not provided |
From Mendelics, SCV001140561.1
# | 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 | unknown | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From Illumina Laboratory Services, Illumina, SCV001287308.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
Description
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown 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: Jul 29, 2024