NM_007294.4(BRCA1):c.3277G>T (p.Val1093Phe) AND Breast-ovarian cancer, familial, susceptibility to, 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 19, 2023
- Review status:
- 1 star out of maximum of 4 starscriteria provided, single submitter
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV003997338.2
Allele description [Variation Report for NM_007294.4(BRCA1):c.3277G>T (p.Val1093Phe)]
NM_007294.4(BRCA1):c.3277G>T (p.Val1093Phe)
- Genes:
- BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
LOC126862571:BRD4-independent group 4 enhancer GRCh37_chr17:41243136-41244335 [Gene] - Variant type:
- single nucleotide variant
- Cytogenetic location:
- 17q21.31
- Genomic location:
- Preferred name:
- NM_007294.4(BRCA1):c.3277G>T (p.Val1093Phe)
- HGVS:
- NC_000017.11:g.43092254C>A
- NG_005905.2:g.125730G>T
- NG_087068.1:g.1236C>A
- NM_001407571.1:c.3064G>T
- NM_001407581.1:c.3277G>T
- NM_001407582.1:c.3277G>T
- NM_001407583.1:c.3277G>T
- NM_001407585.1:c.3277G>T
- NM_001407587.1:c.3274G>T
- NM_001407590.1:c.3274G>T
- NM_001407591.1:c.3274G>T
- NM_001407593.1:c.3277G>T
- NM_001407594.1:c.3277G>T
- NM_001407596.1:c.3277G>T
- NM_001407597.1:c.3277G>T
- NM_001407598.1:c.3277G>T
- NM_001407602.1:c.3277G>T
- NM_001407603.1:c.3277G>T
- NM_001407605.1:c.3277G>T
- NM_001407610.1:c.3274G>T
- NM_001407611.1:c.3274G>T
- NM_001407612.1:c.3274G>T
- NM_001407613.1:c.3274G>T
- NM_001407614.1:c.3274G>T
- NM_001407615.1:c.3274G>T
- NM_001407616.1:c.3277G>T
- NM_001407617.1:c.3277G>T
- NM_001407618.1:c.3277G>T
- NM_001407619.1:c.3277G>T
- NM_001407620.1:c.3277G>T
- NM_001407621.1:c.3277G>T
- NM_001407622.1:c.3277G>T
- NM_001407623.1:c.3277G>T
- NM_001407624.1:c.3277G>T
- NM_001407625.1:c.3277G>T
- NM_001407626.1:c.3277G>T
- NM_001407627.1:c.3274G>T
- NM_001407628.1:c.3274G>T
- NM_001407629.1:c.3274G>T
- NM_001407630.1:c.3274G>T
- NM_001407631.1:c.3274G>T
- NM_001407632.1:c.3274G>T
- NM_001407633.1:c.3274G>T
- NM_001407634.1:c.3274G>T
- NM_001407635.1:c.3274G>T
- NM_001407636.1:c.3274G>T
- NM_001407637.1:c.3274G>T
- NM_001407638.1:c.3274G>T
- NM_001407639.1:c.3277G>T
- NM_001407640.1:c.3277G>T
- NM_001407641.1:c.3277G>T
- NM_001407642.1:c.3277G>T
- NM_001407644.1:c.3274G>T
- NM_001407645.1:c.3274G>T
- NM_001407646.1:c.3268G>T
- NM_001407647.1:c.3268G>T
- NM_001407648.1:c.3154G>T
- NM_001407649.1:c.3151G>T
- NM_001407652.1:c.3277G>T
- NM_001407653.1:c.3199G>T
- NM_001407654.1:c.3199G>T
- NM_001407655.1:c.3199G>T
- NM_001407656.1:c.3199G>T
- NM_001407657.1:c.3199G>T
- NM_001407658.1:c.3199G>T
- NM_001407659.1:c.3196G>T
- NM_001407660.1:c.3196G>T
- NM_001407661.1:c.3196G>T
- NM_001407662.1:c.3196G>T
- NM_001407663.1:c.3199G>T
- NM_001407664.1:c.3154G>T
- NM_001407665.1:c.3154G>T
- NM_001407666.1:c.3154G>T
- NM_001407667.1:c.3154G>T
- NM_001407668.1:c.3154G>T
- NM_001407669.1:c.3154G>T
- NM_001407670.1:c.3151G>T
- NM_001407671.1:c.3151G>T
- NM_001407672.1:c.3151G>T
- NM_001407673.1:c.3151G>T
- NM_001407674.1:c.3154G>T
- NM_001407675.1:c.3154G>T
- NM_001407676.1:c.3154G>T
- NM_001407677.1:c.3154G>T
- NM_001407678.1:c.3154G>T
- NM_001407679.1:c.3154G>T
- NM_001407680.1:c.3154G>T
- NM_001407681.1:c.3154G>T
- NM_001407682.1:c.3154G>T
- NM_001407683.1:c.3154G>T
- NM_001407684.1:c.3277G>T
- NM_001407685.1:c.3151G>T
- NM_001407686.1:c.3151G>T
- NM_001407687.1:c.3151G>T
- NM_001407688.1:c.3151G>T
- NM_001407689.1:c.3151G>T
- NM_001407690.1:c.3151G>T
- NM_001407691.1:c.3151G>T
- NM_001407692.1:c.3136G>T
- NM_001407694.1:c.3136G>T
- NM_001407695.1:c.3136G>T
- NM_001407696.1:c.3136G>T
- NM_001407697.1:c.3136G>T
- NM_001407698.1:c.3136G>T
- NM_001407724.1:c.3136G>T
- NM_001407725.1:c.3136G>T
- NM_001407726.1:c.3136G>T
- NM_001407727.1:c.3136G>T
- NM_001407728.1:c.3136G>T
- NM_001407729.1:c.3136G>T
- NM_001407730.1:c.3136G>T
- NM_001407731.1:c.3136G>T
- NM_001407732.1:c.3136G>T
- NM_001407733.1:c.3136G>T
- NM_001407734.1:c.3136G>T
- NM_001407735.1:c.3136G>T
- NM_001407736.1:c.3136G>T
- NM_001407737.1:c.3136G>T
- NM_001407738.1:c.3136G>T
- NM_001407739.1:c.3136G>T
- NM_001407740.1:c.3133G>T
- NM_001407741.1:c.3133G>T
- NM_001407742.1:c.3133G>T
- NM_001407743.1:c.3133G>T
- NM_001407744.1:c.3133G>T
- NM_001407745.1:c.3133G>T
- NM_001407746.1:c.3133G>T
- NM_001407747.1:c.3133G>T
- NM_001407748.1:c.3133G>T
- NM_001407749.1:c.3133G>T
- NM_001407750.1:c.3136G>T
- NM_001407751.1:c.3136G>T
- NM_001407752.1:c.3136G>T
- NM_001407838.1:c.3133G>T
- NM_001407839.1:c.3133G>T
- NM_001407841.1:c.3133G>T
- NM_001407842.1:c.3133G>T
- NM_001407843.1:c.3133G>T
- NM_001407844.1:c.3133G>T
- NM_001407845.1:c.3133G>T
- NM_001407846.1:c.3133G>T
- NM_001407847.1:c.3133G>T
- NM_001407848.1:c.3133G>T
- NM_001407849.1:c.3133G>T
- NM_001407850.1:c.3136G>T
- NM_001407851.1:c.3136G>T
- NM_001407852.1:c.3136G>T
- NM_001407853.1:c.3064G>T
- NM_001407854.1:c.3277G>T
- NM_001407858.1:c.3277G>T
- NM_001407859.1:c.3277G>T
- NM_001407860.1:c.3274G>T
- NM_001407861.1:c.3274G>T
- NM_001407862.1:c.3076G>T
- NM_001407863.1:c.3154G>T
- NM_001407874.1:c.3073G>T
- NM_001407875.1:c.3073G>T
- NM_001407879.1:c.3067G>T
- NM_001407881.1:c.3067G>T
- NM_001407882.1:c.3067G>T
- NM_001407884.1:c.3067G>T
- NM_001407885.1:c.3067G>T
- NM_001407886.1:c.3067G>T
- NM_001407887.1:c.3067G>T
- NM_001407889.1:c.3067G>T
- NM_001407894.1:c.3064G>T
- NM_001407895.1:c.3064G>T
- NM_001407896.1:c.3064G>T
- NM_001407897.1:c.3064G>T
- NM_001407898.1:c.3064G>T
- NM_001407899.1:c.3064G>T
- NM_001407900.1:c.3067G>T
- NM_001407902.1:c.3067G>T
- NM_001407904.1:c.3067G>T
- NM_001407906.1:c.3067G>T
- NM_001407907.1:c.3067G>T
- NM_001407908.1:c.3067G>T
- NM_001407909.1:c.3067G>T
- NM_001407910.1:c.3067G>T
- NM_001407915.1:c.3064G>T
- NM_001407916.1:c.3064G>T
- NM_001407917.1:c.3064G>T
- NM_001407918.1:c.3064G>T
- NM_001407919.1:c.3154G>T
- NM_001407920.1:c.3013G>T
- NM_001407921.1:c.3013G>T
- NM_001407922.1:c.3013G>T
- NM_001407923.1:c.3013G>T
- NM_001407924.1:c.3013G>T
- NM_001407925.1:c.3013G>T
- NM_001407926.1:c.3013G>T
- NM_001407927.1:c.3013G>T
- NM_001407928.1:c.3013G>T
- NM_001407929.1:c.3013G>T
- NM_001407930.1:c.3010G>T
- NM_001407931.1:c.3010G>T
- NM_001407932.1:c.3010G>T
- NM_001407933.1:c.3013G>T
- NM_001407934.1:c.3010G>T
- NM_001407935.1:c.3013G>T
- NM_001407936.1:c.3010G>T
- NM_001407937.1:c.3154G>T
- NM_001407938.1:c.3154G>T
- NM_001407939.1:c.3154G>T
- NM_001407940.1:c.3151G>T
- NM_001407941.1:c.3151G>T
- NM_001407942.1:c.3136G>T
- NM_001407943.1:c.3133G>T
- NM_001407944.1:c.3136G>T
- NM_001407945.1:c.3136G>T
- NM_001407946.1:c.2944G>T
- NM_001407947.1:c.2944G>T
- NM_001407948.1:c.2944G>T
- NM_001407949.1:c.2944G>T
- NM_001407950.1:c.2944G>T
- NM_001407951.1:c.2944G>T
- NM_001407952.1:c.2944G>T
- NM_001407953.1:c.2944G>T
- NM_001407954.1:c.2941G>T
- NM_001407955.1:c.2941G>T
- NM_001407956.1:c.2941G>T
- NM_001407957.1:c.2944G>T
- NM_001407958.1:c.2941G>T
- NM_001407959.1:c.2896G>T
- NM_001407960.1:c.2896G>T
- NM_001407962.1:c.2893G>T
- NM_001407963.1:c.2896G>T
- NM_001407964.1:c.3133G>T
- NM_001407965.1:c.2773G>T
- NM_001407966.1:c.2389G>T
- NM_001407967.1:c.2389G>T
- NM_001407968.1:c.788-115G>T
- NM_001407969.1:c.788-115G>T
- NM_001407970.1:c.788-1222G>T
- NM_001407971.1:c.788-1222G>T
- NM_001407972.1:c.785-1222G>T
- NM_001407973.1:c.788-1222G>T
- NM_001407974.1:c.788-1222G>T
- NM_001407975.1:c.788-1222G>T
- NM_001407976.1:c.788-1222G>T
- NM_001407977.1:c.788-1222G>T
- NM_001407978.1:c.788-1222G>T
- NM_001407979.1:c.788-1222G>T
- NM_001407980.1:c.788-1222G>T
- NM_001407981.1:c.788-1222G>T
- NM_001407982.1:c.788-1222G>T
- NM_001407983.1:c.788-1222G>T
- NM_001407984.1:c.785-1222G>T
- NM_001407985.1:c.785-1222G>T
- NM_001407986.1:c.785-1222G>T
- NM_001407990.1:c.788-1222G>T
- NM_001407991.1:c.785-1222G>T
- NM_001407992.1:c.785-1222G>T
- NM_001407993.1:c.788-1222G>T
- NM_001408392.1:c.785-1222G>T
- NM_001408396.1:c.785-1222G>T
- NM_001408397.1:c.785-1222G>T
- NM_001408398.1:c.785-1222G>T
- NM_001408399.1:c.785-1222G>T
- NM_001408400.1:c.785-1222G>T
- NM_001408401.1:c.785-1222G>T
- NM_001408402.1:c.785-1222G>T
- NM_001408403.1:c.788-1222G>T
- NM_001408404.1:c.788-1222G>T
- NM_001408406.1:c.791-1231G>T
- NM_001408407.1:c.785-1222G>T
- NM_001408408.1:c.779-1222G>T
- NM_001408409.1:c.710-1222G>T
- NM_001408410.1:c.647-1222G>T
- NM_001408411.1:c.710-1222G>T
- NM_001408412.1:c.710-1222G>T
- NM_001408413.1:c.707-1222G>T
- NM_001408414.1:c.710-1222G>T
- NM_001408415.1:c.710-1222G>T
- NM_001408416.1:c.707-1222G>T
- NM_001408418.1:c.671-1222G>T
- NM_001408419.1:c.671-1222G>T
- NM_001408420.1:c.671-1222G>T
- NM_001408421.1:c.668-1222G>T
- NM_001408422.1:c.671-1222G>T
- NM_001408423.1:c.671-1222G>T
- NM_001408424.1:c.668-1222G>T
- NM_001408425.1:c.665-1222G>T
- NM_001408426.1:c.665-1222G>T
- NM_001408427.1:c.665-1222G>T
- NM_001408428.1:c.665-1222G>T
- NM_001408429.1:c.665-1222G>T
- NM_001408430.1:c.665-1222G>T
- NM_001408431.1:c.668-1222G>T
- NM_001408432.1:c.662-1222G>T
- NM_001408433.1:c.662-1222G>T
- NM_001408434.1:c.662-1222G>T
- NM_001408435.1:c.662-1222G>T
- NM_001408436.1:c.665-1222G>T
- NM_001408437.1:c.665-1222G>T
- NM_001408438.1:c.665-1222G>T
- NM_001408439.1:c.665-1222G>T
- NM_001408440.1:c.665-1222G>T
- NM_001408441.1:c.665-1222G>T
- NM_001408442.1:c.665-1222G>T
- NM_001408443.1:c.665-1222G>T
- NM_001408444.1:c.665-1222G>T
- NM_001408445.1:c.662-1222G>T
- NM_001408446.1:c.662-1222G>T
- NM_001408447.1:c.662-1222G>T
- NM_001408448.1:c.662-1222G>T
- NM_001408450.1:c.662-1222G>T
- NM_001408451.1:c.653-1222G>T
- NM_001408452.1:c.647-1222G>T
- NM_001408453.1:c.647-1222G>T
- NM_001408454.1:c.647-1222G>T
- NM_001408455.1:c.647-1222G>T
- NM_001408456.1:c.647-1222G>T
- NM_001408457.1:c.647-1222G>T
- NM_001408458.1:c.647-1222G>T
- NM_001408459.1:c.647-1222G>T
- NM_001408460.1:c.647-1222G>T
- NM_001408461.1:c.647-1222G>T
- NM_001408462.1:c.644-1222G>T
- NM_001408463.1:c.644-1222G>T
- NM_001408464.1:c.644-1222G>T
- NM_001408465.1:c.644-1222G>T
- NM_001408466.1:c.647-1222G>T
- NM_001408467.1:c.647-1222G>T
- NM_001408468.1:c.644-1222G>T
- NM_001408469.1:c.647-1222G>T
- NM_001408470.1:c.644-1222G>T
- NM_001408472.1:c.788-1222G>T
- NM_001408473.1:c.785-1222G>T
- NM_001408474.1:c.587-1222G>T
- NM_001408475.1:c.584-1222G>T
- NM_001408476.1:c.587-1222G>T
- NM_001408478.1:c.578-1222G>T
- NM_001408479.1:c.578-1222G>T
- NM_001408480.1:c.578-1222G>T
- NM_001408481.1:c.578-1222G>T
- NM_001408482.1:c.578-1222G>T
- NM_001408483.1:c.578-1222G>T
- NM_001408484.1:c.578-1222G>T
- NM_001408485.1:c.578-1222G>T
- NM_001408489.1:c.578-1222G>T
- NM_001408490.1:c.575-1222G>T
- NM_001408491.1:c.575-1222G>T
- NM_001408492.1:c.578-1222G>T
- NM_001408493.1:c.575-1222G>T
- NM_001408494.1:c.548-1222G>T
- NM_001408495.1:c.545-1222G>T
- NM_001408496.1:c.524-1222G>T
- NM_001408497.1:c.524-1222G>T
- NM_001408498.1:c.524-1222G>T
- NM_001408499.1:c.524-1222G>T
- NM_001408500.1:c.524-1222G>T
- NM_001408501.1:c.524-1222G>T
- NM_001408502.1:c.455-1222G>T
- NM_001408503.1:c.521-1222G>T
- NM_001408504.1:c.521-1222G>T
- NM_001408505.1:c.521-1222G>T
- NM_001408506.1:c.461-1222G>T
- NM_001408507.1:c.461-1222G>T
- NM_001408508.1:c.452-1222G>T
- NM_001408509.1:c.452-1222G>T
- NM_001408510.1:c.407-1222G>T
- NM_001408511.1:c.404-1222G>T
- NM_001408512.1:c.284-1222G>T
- NM_001408513.1:c.578-1222G>T
- NM_001408514.1:c.578-1222G>T
- NM_007294.4:c.3277G>TMANE SELECT
- NM_007297.4:c.3136G>T
- NM_007298.4:c.788-1222G>T
- NM_007299.4:c.788-1222G>T
- NM_007300.4:c.3277G>T
- NP_001394500.1:p.Val1022Phe
- NP_001394510.1:p.Val1093Phe
- NP_001394511.1:p.Val1093Phe
- NP_001394512.1:p.Val1093Phe
- NP_001394514.1:p.Val1093Phe
- NP_001394516.1:p.Val1092Phe
- NP_001394519.1:p.Val1092Phe
- NP_001394520.1:p.Val1092Phe
- NP_001394522.1:p.Val1093Phe
- NP_001394523.1:p.Val1093Phe
- NP_001394525.1:p.Val1093Phe
- NP_001394526.1:p.Val1093Phe
- NP_001394527.1:p.Val1093Phe
- NP_001394531.1:p.Val1093Phe
- NP_001394532.1:p.Val1093Phe
- NP_001394534.1:p.Val1093Phe
- NP_001394539.1:p.Val1092Phe
- NP_001394540.1:p.Val1092Phe
- NP_001394541.1:p.Val1092Phe
- NP_001394542.1:p.Val1092Phe
- NP_001394543.1:p.Val1092Phe
- NP_001394544.1:p.Val1092Phe
- NP_001394545.1:p.Val1093Phe
- NP_001394546.1:p.Val1093Phe
- NP_001394547.1:p.Val1093Phe
- NP_001394548.1:p.Val1093Phe
- NP_001394549.1:p.Val1093Phe
- NP_001394550.1:p.Val1093Phe
- NP_001394551.1:p.Val1093Phe
- NP_001394552.1:p.Val1093Phe
- NP_001394553.1:p.Val1093Phe
- NP_001394554.1:p.Val1093Phe
- NP_001394555.1:p.Val1093Phe
- NP_001394556.1:p.Val1092Phe
- NP_001394557.1:p.Val1092Phe
- NP_001394558.1:p.Val1092Phe
- NP_001394559.1:p.Val1092Phe
- NP_001394560.1:p.Val1092Phe
- NP_001394561.1:p.Val1092Phe
- NP_001394562.1:p.Val1092Phe
- NP_001394563.1:p.Val1092Phe
- NP_001394564.1:p.Val1092Phe
- NP_001394565.1:p.Val1092Phe
- NP_001394566.1:p.Val1092Phe
- NP_001394567.1:p.Val1092Phe
- NP_001394568.1:p.Val1093Phe
- NP_001394569.1:p.Val1093Phe
- NP_001394570.1:p.Val1093Phe
- NP_001394571.1:p.Val1093Phe
- NP_001394573.1:p.Val1092Phe
- NP_001394574.1:p.Val1092Phe
- NP_001394575.1:p.Val1090Phe
- NP_001394576.1:p.Val1090Phe
- NP_001394577.1:p.Val1052Phe
- NP_001394578.1:p.Val1051Phe
- NP_001394581.1:p.Val1093Phe
- NP_001394582.1:p.Val1067Phe
- NP_001394583.1:p.Val1067Phe
- NP_001394584.1:p.Val1067Phe
- NP_001394585.1:p.Val1067Phe
- NP_001394586.1:p.Val1067Phe
- NP_001394587.1:p.Val1067Phe
- NP_001394588.1:p.Val1066Phe
- NP_001394589.1:p.Val1066Phe
- NP_001394590.1:p.Val1066Phe
- NP_001394591.1:p.Val1066Phe
- NP_001394592.1:p.Val1067Phe
- NP_001394593.1:p.Val1052Phe
- NP_001394594.1:p.Val1052Phe
- NP_001394595.1:p.Val1052Phe
- NP_001394596.1:p.Val1052Phe
- NP_001394597.1:p.Val1052Phe
- NP_001394598.1:p.Val1052Phe
- NP_001394599.1:p.Val1051Phe
- NP_001394600.1:p.Val1051Phe
- NP_001394601.1:p.Val1051Phe
- NP_001394602.1:p.Val1051Phe
- NP_001394603.1:p.Val1052Phe
- NP_001394604.1:p.Val1052Phe
- NP_001394605.1:p.Val1052Phe
- NP_001394606.1:p.Val1052Phe
- NP_001394607.1:p.Val1052Phe
- NP_001394608.1:p.Val1052Phe
- NP_001394609.1:p.Val1052Phe
- NP_001394610.1:p.Val1052Phe
- NP_001394611.1:p.Val1052Phe
- NP_001394612.1:p.Val1052Phe
- NP_001394613.1:p.Val1093Phe
- NP_001394614.1:p.Val1051Phe
- NP_001394615.1:p.Val1051Phe
- NP_001394616.1:p.Val1051Phe
- NP_001394617.1:p.Val1051Phe
- NP_001394618.1:p.Val1051Phe
- NP_001394619.1:p.Val1051Phe
- NP_001394620.1:p.Val1051Phe
- NP_001394621.1:p.Val1046Phe
- NP_001394623.1:p.Val1046Phe
- NP_001394624.1:p.Val1046Phe
- NP_001394625.1:p.Val1046Phe
- NP_001394626.1:p.Val1046Phe
- NP_001394627.1:p.Val1046Phe
- NP_001394653.1:p.Val1046Phe
- NP_001394654.1:p.Val1046Phe
- NP_001394655.1:p.Val1046Phe
- NP_001394656.1:p.Val1046Phe
- NP_001394657.1:p.Val1046Phe
- NP_001394658.1:p.Val1046Phe
- NP_001394659.1:p.Val1046Phe
- NP_001394660.1:p.Val1046Phe
- NP_001394661.1:p.Val1046Phe
- NP_001394662.1:p.Val1046Phe
- NP_001394663.1:p.Val1046Phe
- NP_001394664.1:p.Val1046Phe
- NP_001394665.1:p.Val1046Phe
- NP_001394666.1:p.Val1046Phe
- NP_001394667.1:p.Val1046Phe
- NP_001394668.1:p.Val1046Phe
- NP_001394669.1:p.Val1045Phe
- NP_001394670.1:p.Val1045Phe
- NP_001394671.1:p.Val1045Phe
- NP_001394672.1:p.Val1045Phe
- NP_001394673.1:p.Val1045Phe
- NP_001394674.1:p.Val1045Phe
- NP_001394675.1:p.Val1045Phe
- NP_001394676.1:p.Val1045Phe
- NP_001394677.1:p.Val1045Phe
- NP_001394678.1:p.Val1045Phe
- NP_001394679.1:p.Val1046Phe
- NP_001394680.1:p.Val1046Phe
- NP_001394681.1:p.Val1046Phe
- NP_001394767.1:p.Val1045Phe
- NP_001394768.1:p.Val1045Phe
- NP_001394770.1:p.Val1045Phe
- NP_001394771.1:p.Val1045Phe
- NP_001394772.1:p.Val1045Phe
- NP_001394773.1:p.Val1045Phe
- NP_001394774.1:p.Val1045Phe
- NP_001394775.1:p.Val1045Phe
- NP_001394776.1:p.Val1045Phe
- NP_001394777.1:p.Val1045Phe
- NP_001394778.1:p.Val1045Phe
- NP_001394779.1:p.Val1046Phe
- NP_001394780.1:p.Val1046Phe
- NP_001394781.1:p.Val1046Phe
- NP_001394782.1:p.Val1022Phe
- NP_001394783.1:p.Val1093Phe
- NP_001394787.1:p.Val1093Phe
- NP_001394788.1:p.Val1093Phe
- NP_001394789.1:p.Val1092Phe
- NP_001394790.1:p.Val1092Phe
- NP_001394791.1:p.Val1026Phe
- NP_001394792.1:p.Val1052Phe
- NP_001394803.1:p.Val1025Phe
- NP_001394804.1:p.Val1025Phe
- NP_001394808.1:p.Val1023Phe
- NP_001394810.1:p.Val1023Phe
- NP_001394811.1:p.Val1023Phe
- NP_001394813.1:p.Val1023Phe
- NP_001394814.1:p.Val1023Phe
- NP_001394815.1:p.Val1023Phe
- NP_001394816.1:p.Val1023Phe
- NP_001394818.1:p.Val1023Phe
- NP_001394823.1:p.Val1022Phe
- NP_001394824.1:p.Val1022Phe
- NP_001394825.1:p.Val1022Phe
- NP_001394826.1:p.Val1022Phe
- NP_001394827.1:p.Val1022Phe
- NP_001394828.1:p.Val1022Phe
- NP_001394829.1:p.Val1023Phe
- NP_001394831.1:p.Val1023Phe
- NP_001394833.1:p.Val1023Phe
- NP_001394835.1:p.Val1023Phe
- NP_001394836.1:p.Val1023Phe
- NP_001394837.1:p.Val1023Phe
- NP_001394838.1:p.Val1023Phe
- NP_001394839.1:p.Val1023Phe
- NP_001394844.1:p.Val1022Phe
- NP_001394845.1:p.Val1022Phe
- NP_001394846.1:p.Val1022Phe
- NP_001394847.1:p.Val1022Phe
- NP_001394848.1:p.Val1052Phe
- NP_001394849.1:p.Val1005Phe
- NP_001394850.1:p.Val1005Phe
- NP_001394851.1:p.Val1005Phe
- NP_001394852.1:p.Val1005Phe
- NP_001394853.1:p.Val1005Phe
- NP_001394854.1:p.Val1005Phe
- NP_001394855.1:p.Val1005Phe
- NP_001394856.1:p.Val1005Phe
- NP_001394857.1:p.Val1005Phe
- NP_001394858.1:p.Val1005Phe
- NP_001394859.1:p.Val1004Phe
- NP_001394860.1:p.Val1004Phe
- NP_001394861.1:p.Val1004Phe
- NP_001394862.1:p.Val1005Phe
- NP_001394863.1:p.Val1004Phe
- NP_001394864.1:p.Val1005Phe
- NP_001394865.1:p.Val1004Phe
- NP_001394866.1:p.Val1052Phe
- NP_001394867.1:p.Val1052Phe
- NP_001394868.1:p.Val1052Phe
- NP_001394869.1:p.Val1051Phe
- NP_001394870.1:p.Val1051Phe
- NP_001394871.1:p.Val1046Phe
- NP_001394872.1:p.Val1045Phe
- NP_001394873.1:p.Val1046Phe
- NP_001394874.1:p.Val1046Phe
- NP_001394875.1:p.Val982Phe
- NP_001394876.1:p.Val982Phe
- NP_001394877.1:p.Val982Phe
- NP_001394878.1:p.Val982Phe
- NP_001394879.1:p.Val982Phe
- NP_001394880.1:p.Val982Phe
- NP_001394881.1:p.Val982Phe
- NP_001394882.1:p.Val982Phe
- NP_001394883.1:p.Val981Phe
- NP_001394884.1:p.Val981Phe
- NP_001394885.1:p.Val981Phe
- NP_001394886.1:p.Val982Phe
- NP_001394887.1:p.Val981Phe
- NP_001394888.1:p.Val966Phe
- NP_001394889.1:p.Val966Phe
- NP_001394891.1:p.Val965Phe
- NP_001394892.1:p.Val966Phe
- NP_001394893.1:p.Val1045Phe
- NP_001394894.1:p.Val925Phe
- NP_001394895.1:p.Val797Phe
- NP_001394896.1:p.Val797Phe
- NP_009225.1:p.Val1093Phe
- NP_009225.1:p.Val1093Phe
- NP_009228.2:p.Val1046Phe
- NP_009231.2:p.Val1093Phe
- LRG_292t1:c.3277G>T
- LRG_292:g.125730G>T
- LRG_292p1:p.Val1093Phe
- NC_000017.10:g.41244271C>A
- NM_007294.3:c.3277G>T
- NR_027676.1:n.3413G>T
This HGVS expression did not pass validation- Protein change:
- V1004F
- Links:
- dbSNP: rs587778117
- NCBI 1000 Genomes Browser:
- rs587778117
- Molecular consequence:
- NM_001407968.1:c.788-115G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407969.1:c.788-115G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407970.1:c.788-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407971.1:c.788-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407972.1:c.785-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407973.1:c.788-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407974.1:c.788-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407975.1:c.788-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407976.1:c.788-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407977.1:c.788-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407978.1:c.788-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407979.1:c.788-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407980.1:c.788-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407981.1:c.788-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407982.1:c.788-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407983.1:c.788-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407984.1:c.785-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407985.1:c.785-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407986.1:c.785-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407990.1:c.788-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407991.1:c.785-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407992.1:c.785-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407993.1:c.788-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408392.1:c.785-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408396.1:c.785-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408397.1:c.785-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408398.1:c.785-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408399.1:c.785-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408400.1:c.785-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408401.1:c.785-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408402.1:c.785-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408403.1:c.788-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408404.1:c.788-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408406.1:c.791-1231G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408407.1:c.785-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408408.1:c.779-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408409.1:c.710-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408410.1:c.647-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408411.1:c.710-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408412.1:c.710-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408413.1:c.707-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408414.1:c.710-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408415.1:c.710-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408416.1:c.707-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408418.1:c.671-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408419.1:c.671-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408420.1:c.671-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408421.1:c.668-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408422.1:c.671-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408423.1:c.671-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408424.1:c.668-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408425.1:c.665-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408426.1:c.665-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408427.1:c.665-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408428.1:c.665-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408429.1:c.665-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408430.1:c.665-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408431.1:c.668-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408432.1:c.662-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408433.1:c.662-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408434.1:c.662-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408435.1:c.662-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408436.1:c.665-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408437.1:c.665-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408438.1:c.665-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408439.1:c.665-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408440.1:c.665-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408441.1:c.665-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408442.1:c.665-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408443.1:c.665-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408444.1:c.665-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408445.1:c.662-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408446.1:c.662-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408447.1:c.662-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408448.1:c.662-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408450.1:c.662-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408451.1:c.653-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408452.1:c.647-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408453.1:c.647-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408454.1:c.647-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408455.1:c.647-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408456.1:c.647-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408457.1:c.647-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408458.1:c.647-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408459.1:c.647-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408460.1:c.647-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408461.1:c.647-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408462.1:c.644-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408463.1:c.644-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408464.1:c.644-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408465.1:c.644-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408466.1:c.647-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408467.1:c.647-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408468.1:c.644-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408469.1:c.647-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408470.1:c.644-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408472.1:c.788-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408473.1:c.785-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408474.1:c.587-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408475.1:c.584-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408476.1:c.587-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408478.1:c.578-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408479.1:c.578-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408480.1:c.578-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408481.1:c.578-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408482.1:c.578-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408483.1:c.578-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408484.1:c.578-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408485.1:c.578-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408489.1:c.578-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408490.1:c.575-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408491.1:c.575-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408492.1:c.578-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408493.1:c.575-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408494.1:c.548-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408495.1:c.545-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408496.1:c.524-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408497.1:c.524-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408498.1:c.524-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408499.1:c.524-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408500.1:c.524-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408501.1:c.524-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408502.1:c.455-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408503.1:c.521-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408504.1:c.521-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408505.1:c.521-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408506.1:c.461-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408507.1:c.461-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408508.1:c.452-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408509.1:c.452-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408510.1:c.407-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408511.1:c.404-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408512.1:c.284-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408513.1:c.578-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408514.1:c.578-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_007298.4:c.788-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_007299.4:c.788-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407571.1:c.3064G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407581.1:c.3277G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407582.1:c.3277G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407583.1:c.3277G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407585.1:c.3277G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407587.1:c.3274G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407590.1:c.3274G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407591.1:c.3274G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407593.1:c.3277G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407594.1:c.3277G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407596.1:c.3277G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407597.1:c.3277G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407598.1:c.3277G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407602.1:c.3277G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407603.1:c.3277G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407605.1:c.3277G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407610.1:c.3274G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407611.1:c.3274G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407612.1:c.3274G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407613.1:c.3274G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407614.1:c.3274G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407615.1:c.3274G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407616.1:c.3277G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407617.1:c.3277G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407618.1:c.3277G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407619.1:c.3277G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407620.1:c.3277G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407621.1:c.3277G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407622.1:c.3277G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407623.1:c.3277G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407624.1:c.3277G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407625.1:c.3277G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407626.1:c.3277G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407627.1:c.3274G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407628.1:c.3274G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407629.1:c.3274G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407630.1:c.3274G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407631.1:c.3274G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407632.1:c.3274G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407633.1:c.3274G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407634.1:c.3274G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407635.1:c.3274G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407636.1:c.3274G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407637.1:c.3274G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407638.1:c.3274G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407639.1:c.3277G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407640.1:c.3277G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407641.1:c.3277G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407642.1:c.3277G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407644.1:c.3274G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407645.1:c.3274G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407646.1:c.3268G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407647.1:c.3268G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407648.1:c.3154G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407649.1:c.3151G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407652.1:c.3277G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407653.1:c.3199G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407654.1:c.3199G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407655.1:c.3199G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407656.1:c.3199G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407657.1:c.3199G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407658.1:c.3199G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407659.1:c.3196G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407660.1:c.3196G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407661.1:c.3196G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407662.1:c.3196G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407663.1:c.3199G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407664.1:c.3154G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407665.1:c.3154G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407666.1:c.3154G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407667.1:c.3154G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407668.1:c.3154G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407669.1:c.3154G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407670.1:c.3151G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407671.1:c.3151G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407672.1:c.3151G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407673.1:c.3151G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407674.1:c.3154G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407675.1:c.3154G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407676.1:c.3154G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407677.1:c.3154G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407678.1:c.3154G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407679.1:c.3154G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407680.1:c.3154G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407681.1:c.3154G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407682.1:c.3154G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407683.1:c.3154G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407684.1:c.3277G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407685.1:c.3151G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407686.1:c.3151G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407687.1:c.3151G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407688.1:c.3151G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407689.1:c.3151G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407690.1:c.3151G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407691.1:c.3151G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407692.1:c.3136G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407694.1:c.3136G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407695.1:c.3136G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407696.1:c.3136G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407697.1:c.3136G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407698.1:c.3136G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407724.1:c.3136G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407725.1:c.3136G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407726.1:c.3136G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407727.1:c.3136G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407728.1:c.3136G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407729.1:c.3136G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407730.1:c.3136G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407731.1:c.3136G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407732.1:c.3136G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407733.1:c.3136G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407734.1:c.3136G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407735.1:c.3136G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407736.1:c.3136G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407737.1:c.3136G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407738.1:c.3136G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407739.1:c.3136G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407740.1:c.3133G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407741.1:c.3133G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407742.1:c.3133G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407743.1:c.3133G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407744.1:c.3133G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407745.1:c.3133G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407746.1:c.3133G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407747.1:c.3133G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407748.1:c.3133G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407749.1:c.3133G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407750.1:c.3136G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407751.1:c.3136G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407752.1:c.3136G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407838.1:c.3133G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407839.1:c.3133G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407841.1:c.3133G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407842.1:c.3133G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407843.1:c.3133G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407844.1:c.3133G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407845.1:c.3133G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407846.1:c.3133G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407847.1:c.3133G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407848.1:c.3133G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407849.1:c.3133G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407850.1:c.3136G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407851.1:c.3136G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407852.1:c.3136G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407853.1:c.3064G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407854.1:c.3277G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407858.1:c.3277G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407859.1:c.3277G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407860.1:c.3274G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407861.1:c.3274G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407862.1:c.3076G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407863.1:c.3154G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407874.1:c.3073G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407875.1:c.3073G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407879.1:c.3067G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407881.1:c.3067G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407882.1:c.3067G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407884.1:c.3067G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407885.1:c.3067G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407886.1:c.3067G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407887.1:c.3067G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407889.1:c.3067G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407894.1:c.3064G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407895.1:c.3064G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407896.1:c.3064G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407897.1:c.3064G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407898.1:c.3064G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407899.1:c.3064G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407900.1:c.3067G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407902.1:c.3067G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407904.1:c.3067G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407906.1:c.3067G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407907.1:c.3067G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407908.1:c.3067G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407909.1:c.3067G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407910.1:c.3067G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407915.1:c.3064G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407916.1:c.3064G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407917.1:c.3064G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407918.1:c.3064G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407919.1:c.3154G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407920.1:c.3013G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407921.1:c.3013G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407922.1:c.3013G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407923.1:c.3013G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407924.1:c.3013G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407925.1:c.3013G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407926.1:c.3013G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407927.1:c.3013G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407928.1:c.3013G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407929.1:c.3013G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407930.1:c.3010G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407931.1:c.3010G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407932.1:c.3010G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407933.1:c.3013G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407934.1:c.3010G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407935.1:c.3013G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407936.1:c.3010G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407937.1:c.3154G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407938.1:c.3154G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407939.1:c.3154G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407940.1:c.3151G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407941.1:c.3151G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407942.1:c.3136G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407943.1:c.3133G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407944.1:c.3136G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407945.1:c.3136G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407946.1:c.2944G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407947.1:c.2944G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407948.1:c.2944G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407949.1:c.2944G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407950.1:c.2944G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407951.1:c.2944G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407952.1:c.2944G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407953.1:c.2944G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407954.1:c.2941G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407955.1:c.2941G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407956.1:c.2941G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407957.1:c.2944G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407958.1:c.2941G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407959.1:c.2896G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407960.1:c.2896G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407962.1:c.2893G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407963.1:c.2896G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407964.1:c.3133G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407965.1:c.2773G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407966.1:c.2389G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407967.1:c.2389G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_007294.4:c.3277G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_007297.4:c.3136G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_007300.4:c.3277G>T - missense variant - [Sequence Ontology: SO:0001583]
- Observations:
- 1
Condition(s)
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV004815579 | All of Us Research Program, National Institutes of Health | criteria provided, single submitter (ACMG Guidelines, 2015) | Uncertain Significance (Jul 19, 2023) | germline | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | germline | unknown | 1 | not provided | not provided | 108544 | not provided | clinical testing |
Citations
PubMed
Bodian DL, McCutcheon JN, Kothiyal P, Huddleston KC, Iyer RK, Vockley JG, Niederhuber JE.
PLoS One. 2014;9(4):e94554. doi: 10.1371/journal.pone.0094554.
- PMID:
- 24728327
- PMCID:
- PMC3984285
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.
- PMID:
- 25741868
- PMCID:
- PMC4544753
Details of each submission
From All of Us Research Program, National Institutes of Health, SCV004815579.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | 1 | not provided | not provided | clinical testing | PubMed (2) |
Description
This missense variant replaces valine with phenylalanine at codon 1093 of the BRCA1 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been performed for this variant. This variant has been reported in a healthy individual (PMID: 24728327). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | 108544 | not provided | not provided | 1 | not provided | not provided | not provided |
Last Updated: Oct 8, 2024