NM_007294.4(BRCA1):c.3211G>A (p.Glu1071Lys) AND Breast-ovarian cancer, familial, susceptibility to, 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 3, 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:
- RCV003995319.2
Allele description [Variation Report for NM_007294.4(BRCA1):c.3211G>A (p.Glu1071Lys)]
NM_007294.4(BRCA1):c.3211G>A (p.Glu1071Lys)
- 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.3211G>A (p.Glu1071Lys)
- HGVS:
- NC_000017.11:g.43092320C>T
- NG_005905.2:g.125664G>A
- NG_087068.1:g.1302C>T
- NM_001407571.1:c.2998G>A
- NM_001407581.1:c.3211G>A
- NM_001407582.1:c.3211G>A
- NM_001407583.1:c.3211G>A
- NM_001407585.1:c.3211G>A
- NM_001407587.1:c.3208G>A
- NM_001407590.1:c.3208G>A
- NM_001407591.1:c.3208G>A
- NM_001407593.1:c.3211G>A
- NM_001407594.1:c.3211G>A
- NM_001407596.1:c.3211G>A
- NM_001407597.1:c.3211G>A
- NM_001407598.1:c.3211G>A
- NM_001407602.1:c.3211G>A
- NM_001407603.1:c.3211G>A
- NM_001407605.1:c.3211G>A
- NM_001407610.1:c.3208G>A
- NM_001407611.1:c.3208G>A
- NM_001407612.1:c.3208G>A
- NM_001407613.1:c.3208G>A
- NM_001407614.1:c.3208G>A
- NM_001407615.1:c.3208G>A
- NM_001407616.1:c.3211G>A
- NM_001407617.1:c.3211G>A
- NM_001407618.1:c.3211G>A
- NM_001407619.1:c.3211G>A
- NM_001407620.1:c.3211G>A
- NM_001407621.1:c.3211G>A
- NM_001407622.1:c.3211G>A
- NM_001407623.1:c.3211G>A
- NM_001407624.1:c.3211G>A
- NM_001407625.1:c.3211G>A
- NM_001407626.1:c.3211G>A
- NM_001407627.1:c.3208G>A
- NM_001407628.1:c.3208G>A
- NM_001407629.1:c.3208G>A
- NM_001407630.1:c.3208G>A
- NM_001407631.1:c.3208G>A
- NM_001407632.1:c.3208G>A
- NM_001407633.1:c.3208G>A
- NM_001407634.1:c.3208G>A
- NM_001407635.1:c.3208G>A
- NM_001407636.1:c.3208G>A
- NM_001407637.1:c.3208G>A
- NM_001407638.1:c.3208G>A
- NM_001407639.1:c.3211G>A
- NM_001407640.1:c.3211G>A
- NM_001407641.1:c.3211G>A
- NM_001407642.1:c.3211G>A
- NM_001407644.1:c.3208G>A
- NM_001407645.1:c.3208G>A
- NM_001407646.1:c.3202G>A
- NM_001407647.1:c.3202G>A
- NM_001407648.1:c.3088G>A
- NM_001407649.1:c.3085G>A
- NM_001407652.1:c.3211G>A
- NM_001407653.1:c.3133G>A
- NM_001407654.1:c.3133G>A
- NM_001407655.1:c.3133G>A
- NM_001407656.1:c.3133G>A
- NM_001407657.1:c.3133G>A
- NM_001407658.1:c.3133G>A
- NM_001407659.1:c.3130G>A
- NM_001407660.1:c.3130G>A
- NM_001407661.1:c.3130G>A
- NM_001407662.1:c.3130G>A
- NM_001407663.1:c.3133G>A
- NM_001407664.1:c.3088G>A
- NM_001407665.1:c.3088G>A
- NM_001407666.1:c.3088G>A
- NM_001407667.1:c.3088G>A
- NM_001407668.1:c.3088G>A
- NM_001407669.1:c.3088G>A
- NM_001407670.1:c.3085G>A
- NM_001407671.1:c.3085G>A
- NM_001407672.1:c.3085G>A
- NM_001407673.1:c.3085G>A
- NM_001407674.1:c.3088G>A
- NM_001407675.1:c.3088G>A
- NM_001407676.1:c.3088G>A
- NM_001407677.1:c.3088G>A
- NM_001407678.1:c.3088G>A
- NM_001407679.1:c.3088G>A
- NM_001407680.1:c.3088G>A
- NM_001407681.1:c.3088G>A
- NM_001407682.1:c.3088G>A
- NM_001407683.1:c.3088G>A
- NM_001407684.1:c.3211G>A
- NM_001407685.1:c.3085G>A
- NM_001407686.1:c.3085G>A
- NM_001407687.1:c.3085G>A
- NM_001407688.1:c.3085G>A
- NM_001407689.1:c.3085G>A
- NM_001407690.1:c.3085G>A
- NM_001407691.1:c.3085G>A
- NM_001407692.1:c.3070G>A
- NM_001407694.1:c.3070G>A
- NM_001407695.1:c.3070G>A
- NM_001407696.1:c.3070G>A
- NM_001407697.1:c.3070G>A
- NM_001407698.1:c.3070G>A
- NM_001407724.1:c.3070G>A
- NM_001407725.1:c.3070G>A
- NM_001407726.1:c.3070G>A
- NM_001407727.1:c.3070G>A
- NM_001407728.1:c.3070G>A
- NM_001407729.1:c.3070G>A
- NM_001407730.1:c.3070G>A
- NM_001407731.1:c.3070G>A
- NM_001407732.1:c.3070G>A
- NM_001407733.1:c.3070G>A
- NM_001407734.1:c.3070G>A
- NM_001407735.1:c.3070G>A
- NM_001407736.1:c.3070G>A
- NM_001407737.1:c.3070G>A
- NM_001407738.1:c.3070G>A
- NM_001407739.1:c.3070G>A
- NM_001407740.1:c.3067G>A
- NM_001407741.1:c.3067G>A
- NM_001407742.1:c.3067G>A
- NM_001407743.1:c.3067G>A
- NM_001407744.1:c.3067G>A
- NM_001407745.1:c.3067G>A
- NM_001407746.1:c.3067G>A
- NM_001407747.1:c.3067G>A
- NM_001407748.1:c.3067G>A
- NM_001407749.1:c.3067G>A
- NM_001407750.1:c.3070G>A
- NM_001407751.1:c.3070G>A
- NM_001407752.1:c.3070G>A
- NM_001407838.1:c.3067G>A
- NM_001407839.1:c.3067G>A
- NM_001407841.1:c.3067G>A
- NM_001407842.1:c.3067G>A
- NM_001407843.1:c.3067G>A
- NM_001407844.1:c.3067G>A
- NM_001407845.1:c.3067G>A
- NM_001407846.1:c.3067G>A
- NM_001407847.1:c.3067G>A
- NM_001407848.1:c.3067G>A
- NM_001407849.1:c.3067G>A
- NM_001407850.1:c.3070G>A
- NM_001407851.1:c.3070G>A
- NM_001407852.1:c.3070G>A
- NM_001407853.1:c.2998G>A
- NM_001407854.1:c.3211G>A
- NM_001407858.1:c.3211G>A
- NM_001407859.1:c.3211G>A
- NM_001407860.1:c.3208G>A
- NM_001407861.1:c.3208G>A
- NM_001407862.1:c.3010G>A
- NM_001407863.1:c.3088G>A
- NM_001407874.1:c.3007G>A
- NM_001407875.1:c.3007G>A
- NM_001407879.1:c.3001G>A
- NM_001407881.1:c.3001G>A
- NM_001407882.1:c.3001G>A
- NM_001407884.1:c.3001G>A
- NM_001407885.1:c.3001G>A
- NM_001407886.1:c.3001G>A
- NM_001407887.1:c.3001G>A
- NM_001407889.1:c.3001G>A
- NM_001407894.1:c.2998G>A
- NM_001407895.1:c.2998G>A
- NM_001407896.1:c.2998G>A
- NM_001407897.1:c.2998G>A
- NM_001407898.1:c.2998G>A
- NM_001407899.1:c.2998G>A
- NM_001407900.1:c.3001G>A
- NM_001407902.1:c.3001G>A
- NM_001407904.1:c.3001G>A
- NM_001407906.1:c.3001G>A
- NM_001407907.1:c.3001G>A
- NM_001407908.1:c.3001G>A
- NM_001407909.1:c.3001G>A
- NM_001407910.1:c.3001G>A
- NM_001407915.1:c.2998G>A
- NM_001407916.1:c.2998G>A
- NM_001407917.1:c.2998G>A
- NM_001407918.1:c.2998G>A
- NM_001407919.1:c.3088G>A
- NM_001407920.1:c.2947G>A
- NM_001407921.1:c.2947G>A
- NM_001407922.1:c.2947G>A
- NM_001407923.1:c.2947G>A
- NM_001407924.1:c.2947G>A
- NM_001407925.1:c.2947G>A
- NM_001407926.1:c.2947G>A
- NM_001407927.1:c.2947G>A
- NM_001407928.1:c.2947G>A
- NM_001407929.1:c.2947G>A
- NM_001407930.1:c.2944G>A
- NM_001407931.1:c.2944G>A
- NM_001407932.1:c.2944G>A
- NM_001407933.1:c.2947G>A
- NM_001407934.1:c.2944G>A
- NM_001407935.1:c.2947G>A
- NM_001407936.1:c.2944G>A
- NM_001407937.1:c.3088G>A
- NM_001407938.1:c.3088G>A
- NM_001407939.1:c.3088G>A
- NM_001407940.1:c.3085G>A
- NM_001407941.1:c.3085G>A
- NM_001407942.1:c.3070G>A
- NM_001407943.1:c.3067G>A
- NM_001407944.1:c.3070G>A
- NM_001407945.1:c.3070G>A
- NM_001407946.1:c.2878G>A
- NM_001407947.1:c.2878G>A
- NM_001407948.1:c.2878G>A
- NM_001407949.1:c.2878G>A
- NM_001407950.1:c.2878G>A
- NM_001407951.1:c.2878G>A
- NM_001407952.1:c.2878G>A
- NM_001407953.1:c.2878G>A
- NM_001407954.1:c.2875G>A
- NM_001407955.1:c.2875G>A
- NM_001407956.1:c.2875G>A
- NM_001407957.1:c.2878G>A
- NM_001407958.1:c.2875G>A
- NM_001407959.1:c.2830G>A
- NM_001407960.1:c.2830G>A
- NM_001407962.1:c.2827G>A
- NM_001407963.1:c.2830G>A
- NM_001407964.1:c.3067G>A
- NM_001407965.1:c.2707G>A
- NM_001407966.1:c.2323G>A
- NM_001407967.1:c.2323G>A
- NM_001407968.1:c.788-181G>A
- NM_001407969.1:c.788-181G>A
- NM_001407970.1:c.788-1288G>A
- NM_001407971.1:c.788-1288G>A
- NM_001407972.1:c.785-1288G>A
- NM_001407973.1:c.788-1288G>A
- NM_001407974.1:c.788-1288G>A
- NM_001407975.1:c.788-1288G>A
- NM_001407976.1:c.788-1288G>A
- NM_001407977.1:c.788-1288G>A
- NM_001407978.1:c.788-1288G>A
- NM_001407979.1:c.788-1288G>A
- NM_001407980.1:c.788-1288G>A
- NM_001407981.1:c.788-1288G>A
- NM_001407982.1:c.788-1288G>A
- NM_001407983.1:c.788-1288G>A
- NM_001407984.1:c.785-1288G>A
- NM_001407985.1:c.785-1288G>A
- NM_001407986.1:c.785-1288G>A
- NM_001407990.1:c.788-1288G>A
- NM_001407991.1:c.785-1288G>A
- NM_001407992.1:c.785-1288G>A
- NM_001407993.1:c.788-1288G>A
- NM_001408392.1:c.785-1288G>A
- NM_001408396.1:c.785-1288G>A
- NM_001408397.1:c.785-1288G>A
- NM_001408398.1:c.785-1288G>A
- NM_001408399.1:c.785-1288G>A
- NM_001408400.1:c.785-1288G>A
- NM_001408401.1:c.785-1288G>A
- NM_001408402.1:c.785-1288G>A
- NM_001408403.1:c.788-1288G>A
- NM_001408404.1:c.788-1288G>A
- NM_001408406.1:c.791-1297G>A
- NM_001408407.1:c.785-1288G>A
- NM_001408408.1:c.779-1288G>A
- NM_001408409.1:c.710-1288G>A
- NM_001408410.1:c.647-1288G>A
- NM_001408411.1:c.710-1288G>A
- NM_001408412.1:c.710-1288G>A
- NM_001408413.1:c.707-1288G>A
- NM_001408414.1:c.710-1288G>A
- NM_001408415.1:c.710-1288G>A
- NM_001408416.1:c.707-1288G>A
- NM_001408418.1:c.671-1288G>A
- NM_001408419.1:c.671-1288G>A
- NM_001408420.1:c.671-1288G>A
- NM_001408421.1:c.668-1288G>A
- NM_001408422.1:c.671-1288G>A
- NM_001408423.1:c.671-1288G>A
- NM_001408424.1:c.668-1288G>A
- NM_001408425.1:c.665-1288G>A
- NM_001408426.1:c.665-1288G>A
- NM_001408427.1:c.665-1288G>A
- NM_001408428.1:c.665-1288G>A
- NM_001408429.1:c.665-1288G>A
- NM_001408430.1:c.665-1288G>A
- NM_001408431.1:c.668-1288G>A
- NM_001408432.1:c.662-1288G>A
- NM_001408433.1:c.662-1288G>A
- NM_001408434.1:c.662-1288G>A
- NM_001408435.1:c.662-1288G>A
- NM_001408436.1:c.665-1288G>A
- NM_001408437.1:c.665-1288G>A
- NM_001408438.1:c.665-1288G>A
- NM_001408439.1:c.665-1288G>A
- NM_001408440.1:c.665-1288G>A
- NM_001408441.1:c.665-1288G>A
- NM_001408442.1:c.665-1288G>A
- NM_001408443.1:c.665-1288G>A
- NM_001408444.1:c.665-1288G>A
- NM_001408445.1:c.662-1288G>A
- NM_001408446.1:c.662-1288G>A
- NM_001408447.1:c.662-1288G>A
- NM_001408448.1:c.662-1288G>A
- NM_001408450.1:c.662-1288G>A
- NM_001408451.1:c.653-1288G>A
- NM_001408452.1:c.647-1288G>A
- NM_001408453.1:c.647-1288G>A
- NM_001408454.1:c.647-1288G>A
- NM_001408455.1:c.647-1288G>A
- NM_001408456.1:c.647-1288G>A
- NM_001408457.1:c.647-1288G>A
- NM_001408458.1:c.647-1288G>A
- NM_001408459.1:c.647-1288G>A
- NM_001408460.1:c.647-1288G>A
- NM_001408461.1:c.647-1288G>A
- NM_001408462.1:c.644-1288G>A
- NM_001408463.1:c.644-1288G>A
- NM_001408464.1:c.644-1288G>A
- NM_001408465.1:c.644-1288G>A
- NM_001408466.1:c.647-1288G>A
- NM_001408467.1:c.647-1288G>A
- NM_001408468.1:c.644-1288G>A
- NM_001408469.1:c.647-1288G>A
- NM_001408470.1:c.644-1288G>A
- NM_001408472.1:c.788-1288G>A
- NM_001408473.1:c.785-1288G>A
- NM_001408474.1:c.587-1288G>A
- NM_001408475.1:c.584-1288G>A
- NM_001408476.1:c.587-1288G>A
- NM_001408478.1:c.578-1288G>A
- NM_001408479.1:c.578-1288G>A
- NM_001408480.1:c.578-1288G>A
- NM_001408481.1:c.578-1288G>A
- NM_001408482.1:c.578-1288G>A
- NM_001408483.1:c.578-1288G>A
- NM_001408484.1:c.578-1288G>A
- NM_001408485.1:c.578-1288G>A
- NM_001408489.1:c.578-1288G>A
- NM_001408490.1:c.575-1288G>A
- NM_001408491.1:c.575-1288G>A
- NM_001408492.1:c.578-1288G>A
- NM_001408493.1:c.575-1288G>A
- NM_001408494.1:c.548-1288G>A
- NM_001408495.1:c.545-1288G>A
- NM_001408496.1:c.524-1288G>A
- NM_001408497.1:c.524-1288G>A
- NM_001408498.1:c.524-1288G>A
- NM_001408499.1:c.524-1288G>A
- NM_001408500.1:c.524-1288G>A
- NM_001408501.1:c.524-1288G>A
- NM_001408502.1:c.455-1288G>A
- NM_001408503.1:c.521-1288G>A
- NM_001408504.1:c.521-1288G>A
- NM_001408505.1:c.521-1288G>A
- NM_001408506.1:c.461-1288G>A
- NM_001408507.1:c.461-1288G>A
- NM_001408508.1:c.452-1288G>A
- NM_001408509.1:c.452-1288G>A
- NM_001408510.1:c.407-1288G>A
- NM_001408511.1:c.404-1288G>A
- NM_001408512.1:c.284-1288G>A
- NM_001408513.1:c.578-1288G>A
- NM_001408514.1:c.578-1288G>A
- NM_007294.4:c.3211G>AMANE SELECT
- NM_007297.4:c.3070G>A
- NM_007298.4:c.788-1288G>A
- NM_007299.4:c.788-1288G>A
- NM_007300.4:c.3211G>A
- NP_001394500.1:p.Glu1000Lys
- NP_001394510.1:p.Glu1071Lys
- NP_001394511.1:p.Glu1071Lys
- NP_001394512.1:p.Glu1071Lys
- NP_001394514.1:p.Glu1071Lys
- NP_001394516.1:p.Glu1070Lys
- NP_001394519.1:p.Glu1070Lys
- NP_001394520.1:p.Glu1070Lys
- NP_001394522.1:p.Glu1071Lys
- NP_001394523.1:p.Glu1071Lys
- NP_001394525.1:p.Glu1071Lys
- NP_001394526.1:p.Glu1071Lys
- NP_001394527.1:p.Glu1071Lys
- NP_001394531.1:p.Glu1071Lys
- NP_001394532.1:p.Glu1071Lys
- NP_001394534.1:p.Glu1071Lys
- NP_001394539.1:p.Glu1070Lys
- NP_001394540.1:p.Glu1070Lys
- NP_001394541.1:p.Glu1070Lys
- NP_001394542.1:p.Glu1070Lys
- NP_001394543.1:p.Glu1070Lys
- NP_001394544.1:p.Glu1070Lys
- NP_001394545.1:p.Glu1071Lys
- NP_001394546.1:p.Glu1071Lys
- NP_001394547.1:p.Glu1071Lys
- NP_001394548.1:p.Glu1071Lys
- NP_001394549.1:p.Glu1071Lys
- NP_001394550.1:p.Glu1071Lys
- NP_001394551.1:p.Glu1071Lys
- NP_001394552.1:p.Glu1071Lys
- NP_001394553.1:p.Glu1071Lys
- NP_001394554.1:p.Glu1071Lys
- NP_001394555.1:p.Glu1071Lys
- NP_001394556.1:p.Glu1070Lys
- NP_001394557.1:p.Glu1070Lys
- NP_001394558.1:p.Glu1070Lys
- NP_001394559.1:p.Glu1070Lys
- NP_001394560.1:p.Glu1070Lys
- NP_001394561.1:p.Glu1070Lys
- NP_001394562.1:p.Glu1070Lys
- NP_001394563.1:p.Glu1070Lys
- NP_001394564.1:p.Glu1070Lys
- NP_001394565.1:p.Glu1070Lys
- NP_001394566.1:p.Glu1070Lys
- NP_001394567.1:p.Glu1070Lys
- NP_001394568.1:p.Glu1071Lys
- NP_001394569.1:p.Glu1071Lys
- NP_001394570.1:p.Glu1071Lys
- NP_001394571.1:p.Glu1071Lys
- NP_001394573.1:p.Glu1070Lys
- NP_001394574.1:p.Glu1070Lys
- NP_001394575.1:p.Glu1068Lys
- NP_001394576.1:p.Glu1068Lys
- NP_001394577.1:p.Glu1030Lys
- NP_001394578.1:p.Glu1029Lys
- NP_001394581.1:p.Glu1071Lys
- NP_001394582.1:p.Glu1045Lys
- NP_001394583.1:p.Glu1045Lys
- NP_001394584.1:p.Glu1045Lys
- NP_001394585.1:p.Glu1045Lys
- NP_001394586.1:p.Glu1045Lys
- NP_001394587.1:p.Glu1045Lys
- NP_001394588.1:p.Glu1044Lys
- NP_001394589.1:p.Glu1044Lys
- NP_001394590.1:p.Glu1044Lys
- NP_001394591.1:p.Glu1044Lys
- NP_001394592.1:p.Glu1045Lys
- NP_001394593.1:p.Glu1030Lys
- NP_001394594.1:p.Glu1030Lys
- NP_001394595.1:p.Glu1030Lys
- NP_001394596.1:p.Glu1030Lys
- NP_001394597.1:p.Glu1030Lys
- NP_001394598.1:p.Glu1030Lys
- NP_001394599.1:p.Glu1029Lys
- NP_001394600.1:p.Glu1029Lys
- NP_001394601.1:p.Glu1029Lys
- NP_001394602.1:p.Glu1029Lys
- NP_001394603.1:p.Glu1030Lys
- NP_001394604.1:p.Glu1030Lys
- NP_001394605.1:p.Glu1030Lys
- NP_001394606.1:p.Glu1030Lys
- NP_001394607.1:p.Glu1030Lys
- NP_001394608.1:p.Glu1030Lys
- NP_001394609.1:p.Glu1030Lys
- NP_001394610.1:p.Glu1030Lys
- NP_001394611.1:p.Glu1030Lys
- NP_001394612.1:p.Glu1030Lys
- NP_001394613.1:p.Glu1071Lys
- NP_001394614.1:p.Glu1029Lys
- NP_001394615.1:p.Glu1029Lys
- NP_001394616.1:p.Glu1029Lys
- NP_001394617.1:p.Glu1029Lys
- NP_001394618.1:p.Glu1029Lys
- NP_001394619.1:p.Glu1029Lys
- NP_001394620.1:p.Glu1029Lys
- NP_001394621.1:p.Glu1024Lys
- NP_001394623.1:p.Glu1024Lys
- NP_001394624.1:p.Glu1024Lys
- NP_001394625.1:p.Glu1024Lys
- NP_001394626.1:p.Glu1024Lys
- NP_001394627.1:p.Glu1024Lys
- NP_001394653.1:p.Glu1024Lys
- NP_001394654.1:p.Glu1024Lys
- NP_001394655.1:p.Glu1024Lys
- NP_001394656.1:p.Glu1024Lys
- NP_001394657.1:p.Glu1024Lys
- NP_001394658.1:p.Glu1024Lys
- NP_001394659.1:p.Glu1024Lys
- NP_001394660.1:p.Glu1024Lys
- NP_001394661.1:p.Glu1024Lys
- NP_001394662.1:p.Glu1024Lys
- NP_001394663.1:p.Glu1024Lys
- NP_001394664.1:p.Glu1024Lys
- NP_001394665.1:p.Glu1024Lys
- NP_001394666.1:p.Glu1024Lys
- NP_001394667.1:p.Glu1024Lys
- NP_001394668.1:p.Glu1024Lys
- NP_001394669.1:p.Glu1023Lys
- NP_001394670.1:p.Glu1023Lys
- NP_001394671.1:p.Glu1023Lys
- NP_001394672.1:p.Glu1023Lys
- NP_001394673.1:p.Glu1023Lys
- NP_001394674.1:p.Glu1023Lys
- NP_001394675.1:p.Glu1023Lys
- NP_001394676.1:p.Glu1023Lys
- NP_001394677.1:p.Glu1023Lys
- NP_001394678.1:p.Glu1023Lys
- NP_001394679.1:p.Glu1024Lys
- NP_001394680.1:p.Glu1024Lys
- NP_001394681.1:p.Glu1024Lys
- NP_001394767.1:p.Glu1023Lys
- NP_001394768.1:p.Glu1023Lys
- NP_001394770.1:p.Glu1023Lys
- NP_001394771.1:p.Glu1023Lys
- NP_001394772.1:p.Glu1023Lys
- NP_001394773.1:p.Glu1023Lys
- NP_001394774.1:p.Glu1023Lys
- NP_001394775.1:p.Glu1023Lys
- NP_001394776.1:p.Glu1023Lys
- NP_001394777.1:p.Glu1023Lys
- NP_001394778.1:p.Glu1023Lys
- NP_001394779.1:p.Glu1024Lys
- NP_001394780.1:p.Glu1024Lys
- NP_001394781.1:p.Glu1024Lys
- NP_001394782.1:p.Glu1000Lys
- NP_001394783.1:p.Glu1071Lys
- NP_001394787.1:p.Glu1071Lys
- NP_001394788.1:p.Glu1071Lys
- NP_001394789.1:p.Glu1070Lys
- NP_001394790.1:p.Glu1070Lys
- NP_001394791.1:p.Glu1004Lys
- NP_001394792.1:p.Glu1030Lys
- NP_001394803.1:p.Glu1003Lys
- NP_001394804.1:p.Glu1003Lys
- NP_001394808.1:p.Glu1001Lys
- NP_001394810.1:p.Glu1001Lys
- NP_001394811.1:p.Glu1001Lys
- NP_001394813.1:p.Glu1001Lys
- NP_001394814.1:p.Glu1001Lys
- NP_001394815.1:p.Glu1001Lys
- NP_001394816.1:p.Glu1001Lys
- NP_001394818.1:p.Glu1001Lys
- NP_001394823.1:p.Glu1000Lys
- NP_001394824.1:p.Glu1000Lys
- NP_001394825.1:p.Glu1000Lys
- NP_001394826.1:p.Glu1000Lys
- NP_001394827.1:p.Glu1000Lys
- NP_001394828.1:p.Glu1000Lys
- NP_001394829.1:p.Glu1001Lys
- NP_001394831.1:p.Glu1001Lys
- NP_001394833.1:p.Glu1001Lys
- NP_001394835.1:p.Glu1001Lys
- NP_001394836.1:p.Glu1001Lys
- NP_001394837.1:p.Glu1001Lys
- NP_001394838.1:p.Glu1001Lys
- NP_001394839.1:p.Glu1001Lys
- NP_001394844.1:p.Glu1000Lys
- NP_001394845.1:p.Glu1000Lys
- NP_001394846.1:p.Glu1000Lys
- NP_001394847.1:p.Glu1000Lys
- NP_001394848.1:p.Glu1030Lys
- NP_001394849.1:p.Glu983Lys
- NP_001394850.1:p.Glu983Lys
- NP_001394851.1:p.Glu983Lys
- NP_001394852.1:p.Glu983Lys
- NP_001394853.1:p.Glu983Lys
- NP_001394854.1:p.Glu983Lys
- NP_001394855.1:p.Glu983Lys
- NP_001394856.1:p.Glu983Lys
- NP_001394857.1:p.Glu983Lys
- NP_001394858.1:p.Glu983Lys
- NP_001394859.1:p.Glu982Lys
- NP_001394860.1:p.Glu982Lys
- NP_001394861.1:p.Glu982Lys
- NP_001394862.1:p.Glu983Lys
- NP_001394863.1:p.Glu982Lys
- NP_001394864.1:p.Glu983Lys
- NP_001394865.1:p.Glu982Lys
- NP_001394866.1:p.Glu1030Lys
- NP_001394867.1:p.Glu1030Lys
- NP_001394868.1:p.Glu1030Lys
- NP_001394869.1:p.Glu1029Lys
- NP_001394870.1:p.Glu1029Lys
- NP_001394871.1:p.Glu1024Lys
- NP_001394872.1:p.Glu1023Lys
- NP_001394873.1:p.Glu1024Lys
- NP_001394874.1:p.Glu1024Lys
- NP_001394875.1:p.Glu960Lys
- NP_001394876.1:p.Glu960Lys
- NP_001394877.1:p.Glu960Lys
- NP_001394878.1:p.Glu960Lys
- NP_001394879.1:p.Glu960Lys
- NP_001394880.1:p.Glu960Lys
- NP_001394881.1:p.Glu960Lys
- NP_001394882.1:p.Glu960Lys
- NP_001394883.1:p.Glu959Lys
- NP_001394884.1:p.Glu959Lys
- NP_001394885.1:p.Glu959Lys
- NP_001394886.1:p.Glu960Lys
- NP_001394887.1:p.Glu959Lys
- NP_001394888.1:p.Glu944Lys
- NP_001394889.1:p.Glu944Lys
- NP_001394891.1:p.Glu943Lys
- NP_001394892.1:p.Glu944Lys
- NP_001394893.1:p.Glu1023Lys
- NP_001394894.1:p.Glu903Lys
- NP_001394895.1:p.Glu775Lys
- NP_001394896.1:p.Glu775Lys
- NP_009225.1:p.Glu1071Lys
- NP_009225.1:p.Glu1071Lys
- NP_009228.2:p.Glu1024Lys
- NP_009231.2:p.Glu1071Lys
- LRG_292t1:c.3211G>A
- LRG_292:g.125664G>A
- LRG_292p1:p.Glu1071Lys
- NC_000017.10:g.41244337C>T
- NM_007294.3:c.3211G>A
- NR_027676.1:n.3347G>A
- p.E1071K
This HGVS expression did not pass validation- Protein change:
- E1000K
- Links:
- dbSNP: rs41293445
- NCBI 1000 Genomes Browser:
- rs41293445
- Molecular consequence:
- NM_001407968.1:c.788-181G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407969.1:c.788-181G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407970.1:c.788-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407971.1:c.788-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407972.1:c.785-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407973.1:c.788-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407974.1:c.788-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407975.1:c.788-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407976.1:c.788-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407977.1:c.788-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407978.1:c.788-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407979.1:c.788-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407980.1:c.788-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407981.1:c.788-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407982.1:c.788-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407983.1:c.788-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407984.1:c.785-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407985.1:c.785-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407986.1:c.785-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407990.1:c.788-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407991.1:c.785-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407992.1:c.785-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407993.1:c.788-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408392.1:c.785-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408396.1:c.785-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408397.1:c.785-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408398.1:c.785-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408399.1:c.785-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408400.1:c.785-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408401.1:c.785-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408402.1:c.785-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408403.1:c.788-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408404.1:c.788-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408406.1:c.791-1297G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408407.1:c.785-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408408.1:c.779-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408409.1:c.710-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408410.1:c.647-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408411.1:c.710-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408412.1:c.710-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408413.1:c.707-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408414.1:c.710-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408415.1:c.710-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408416.1:c.707-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408418.1:c.671-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408419.1:c.671-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408420.1:c.671-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408421.1:c.668-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408422.1:c.671-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408423.1:c.671-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408424.1:c.668-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408425.1:c.665-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408426.1:c.665-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408427.1:c.665-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408428.1:c.665-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408429.1:c.665-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408430.1:c.665-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408431.1:c.668-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408432.1:c.662-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408433.1:c.662-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408434.1:c.662-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408435.1:c.662-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408436.1:c.665-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408437.1:c.665-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408438.1:c.665-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408439.1:c.665-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408440.1:c.665-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408441.1:c.665-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408442.1:c.665-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408443.1:c.665-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408444.1:c.665-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408445.1:c.662-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408446.1:c.662-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408447.1:c.662-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408448.1:c.662-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408450.1:c.662-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408451.1:c.653-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408452.1:c.647-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408453.1:c.647-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408454.1:c.647-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408455.1:c.647-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408456.1:c.647-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408457.1:c.647-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408458.1:c.647-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408459.1:c.647-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408460.1:c.647-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408461.1:c.647-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408462.1:c.644-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408463.1:c.644-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408464.1:c.644-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408465.1:c.644-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408466.1:c.647-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408467.1:c.647-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408468.1:c.644-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408469.1:c.647-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408470.1:c.644-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408472.1:c.788-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408473.1:c.785-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408474.1:c.587-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408475.1:c.584-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408476.1:c.587-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408478.1:c.578-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408479.1:c.578-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408480.1:c.578-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408481.1:c.578-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408482.1:c.578-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408483.1:c.578-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408484.1:c.578-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408485.1:c.578-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408489.1:c.578-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408490.1:c.575-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408491.1:c.575-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408492.1:c.578-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408493.1:c.575-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408494.1:c.548-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408495.1:c.545-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408496.1:c.524-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408497.1:c.524-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408498.1:c.524-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408499.1:c.524-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408500.1:c.524-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408501.1:c.524-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408502.1:c.455-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408503.1:c.521-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408504.1:c.521-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408505.1:c.521-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408506.1:c.461-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408507.1:c.461-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408508.1:c.452-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408509.1:c.452-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408510.1:c.407-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408511.1:c.404-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408512.1:c.284-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408513.1:c.578-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408514.1:c.578-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_007298.4:c.788-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_007299.4:c.788-1288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407571.1:c.2998G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407581.1:c.3211G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407582.1:c.3211G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407583.1:c.3211G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407585.1:c.3211G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407587.1:c.3208G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407590.1:c.3208G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407591.1:c.3208G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407593.1:c.3211G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407594.1:c.3211G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407596.1:c.3211G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407597.1:c.3211G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407598.1:c.3211G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407602.1:c.3211G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407603.1:c.3211G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407605.1:c.3211G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407610.1:c.3208G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407611.1:c.3208G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407612.1:c.3208G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407613.1:c.3208G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407614.1:c.3208G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407615.1:c.3208G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407616.1:c.3211G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407617.1:c.3211G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407618.1:c.3211G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407619.1:c.3211G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407620.1:c.3211G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407621.1:c.3211G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407622.1:c.3211G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407623.1:c.3211G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407624.1:c.3211G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407625.1:c.3211G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407626.1:c.3211G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407627.1:c.3208G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407628.1:c.3208G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407629.1:c.3208G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407630.1:c.3208G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407631.1:c.3208G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407632.1:c.3208G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407633.1:c.3208G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407634.1:c.3208G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407635.1:c.3208G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407636.1:c.3208G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407637.1:c.3208G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407638.1:c.3208G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407639.1:c.3211G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407640.1:c.3211G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407641.1:c.3211G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407642.1:c.3211G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407644.1:c.3208G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407645.1:c.3208G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407646.1:c.3202G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407647.1:c.3202G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407648.1:c.3088G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407649.1:c.3085G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407652.1:c.3211G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407653.1:c.3133G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407654.1:c.3133G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407655.1:c.3133G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407656.1:c.3133G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407657.1:c.3133G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407658.1:c.3133G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407659.1:c.3130G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407660.1:c.3130G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407661.1:c.3130G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407662.1:c.3130G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407663.1:c.3133G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407664.1:c.3088G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407665.1:c.3088G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407666.1:c.3088G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407667.1:c.3088G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407668.1:c.3088G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407669.1:c.3088G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407670.1:c.3085G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407671.1:c.3085G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407672.1:c.3085G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407673.1:c.3085G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407674.1:c.3088G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407675.1:c.3088G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407676.1:c.3088G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407677.1:c.3088G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407678.1:c.3088G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407679.1:c.3088G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407680.1:c.3088G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407681.1:c.3088G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407682.1:c.3088G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407683.1:c.3088G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407684.1:c.3211G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407685.1:c.3085G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407686.1:c.3085G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407687.1:c.3085G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407688.1:c.3085G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407689.1:c.3085G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407690.1:c.3085G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407691.1:c.3085G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407692.1:c.3070G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407694.1:c.3070G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407695.1:c.3070G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407696.1:c.3070G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407697.1:c.3070G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407698.1:c.3070G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407724.1:c.3070G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407725.1:c.3070G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407726.1:c.3070G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407727.1:c.3070G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407728.1:c.3070G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407729.1:c.3070G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407730.1:c.3070G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407731.1:c.3070G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407732.1:c.3070G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407733.1:c.3070G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407734.1:c.3070G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407735.1:c.3070G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407736.1:c.3070G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407737.1:c.3070G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407738.1:c.3070G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407739.1:c.3070G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407740.1:c.3067G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407741.1:c.3067G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407742.1:c.3067G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407743.1:c.3067G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407744.1:c.3067G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407745.1:c.3067G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407746.1:c.3067G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407747.1:c.3067G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407748.1:c.3067G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407749.1:c.3067G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407750.1:c.3070G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407751.1:c.3070G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407752.1:c.3070G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407838.1:c.3067G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407839.1:c.3067G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407841.1:c.3067G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407842.1:c.3067G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407843.1:c.3067G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407844.1:c.3067G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407845.1:c.3067G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407846.1:c.3067G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407847.1:c.3067G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407848.1:c.3067G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407849.1:c.3067G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407850.1:c.3070G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407851.1:c.3070G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407852.1:c.3070G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407853.1:c.2998G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407854.1:c.3211G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407858.1:c.3211G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407859.1:c.3211G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407860.1:c.3208G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407861.1:c.3208G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407862.1:c.3010G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407863.1:c.3088G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407874.1:c.3007G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407875.1:c.3007G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407879.1:c.3001G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407881.1:c.3001G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407882.1:c.3001G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407884.1:c.3001G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407885.1:c.3001G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407886.1:c.3001G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407887.1:c.3001G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407889.1:c.3001G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407894.1:c.2998G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407895.1:c.2998G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407896.1:c.2998G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407897.1:c.2998G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407898.1:c.2998G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407899.1:c.2998G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407900.1:c.3001G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407902.1:c.3001G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407904.1:c.3001G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407906.1:c.3001G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407907.1:c.3001G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407908.1:c.3001G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407909.1:c.3001G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407910.1:c.3001G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407915.1:c.2998G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407916.1:c.2998G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407917.1:c.2998G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407918.1:c.2998G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407919.1:c.3088G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407920.1:c.2947G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407921.1:c.2947G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407922.1:c.2947G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407923.1:c.2947G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407924.1:c.2947G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407925.1:c.2947G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407926.1:c.2947G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407927.1:c.2947G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407928.1:c.2947G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407929.1:c.2947G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407930.1:c.2944G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407931.1:c.2944G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407932.1:c.2944G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407933.1:c.2947G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407934.1:c.2944G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407935.1:c.2947G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407936.1:c.2944G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407937.1:c.3088G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407938.1:c.3088G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407939.1:c.3088G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407940.1:c.3085G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407941.1:c.3085G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407942.1:c.3070G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407943.1:c.3067G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407944.1:c.3070G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407945.1:c.3070G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407946.1:c.2878G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407947.1:c.2878G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407948.1:c.2878G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407949.1:c.2878G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407950.1:c.2878G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407951.1:c.2878G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407952.1:c.2878G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407953.1:c.2878G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407954.1:c.2875G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407955.1:c.2875G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407956.1:c.2875G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407957.1:c.2878G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407958.1:c.2875G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407959.1:c.2830G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407960.1:c.2830G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407962.1:c.2827G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407963.1:c.2830G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407964.1:c.3067G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407965.1:c.2707G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407966.1:c.2323G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407967.1:c.2323G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_007294.4:c.3211G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_007297.4:c.3070G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_007300.4:c.3211G>A - 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 |
---|---|---|---|---|---|---|
SCV004815589 | All of Us Research Program, National Institutes of Health | criteria provided, single submitter (ACMG Guidelines, 2015) | Uncertain Significance (Apr 3, 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
Parsons MT, Tudini E, Li H, Hahnen E, Wappenschmidt B, Feliubadaló L, Aalfs CM, Agata S, Aittomäki K, Alducci E, Alonso-Cerezo MC, Arnold N, Auber B, Austin R, Azzollini J, Balmaña J, Barbieri E, Bartram CR, Blanco A, Blümcke B, Bonache S, Bonanni B, et al.
Hum Mutat. 2019 Sep;40(9):1557-1578. doi: 10.1002/humu.23818.
- PMID:
- 31131967
- PMCID:
- PMC6772163
Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women.
Breast Cancer Association Consortium., Dorling L, Carvalho S, Allen J, González-Neira A, Luccarini C, Wahlström C, Pooley KA, Parsons MT, Fortuno C, Wang Q, Bolla MK, Dennis J, Keeman R, Alonso MR, Álvarez N, Herraez B, Fernandez V, Núñez-Torres R, Osorio A, Valcich J, Li M, et al.
N Engl J Med. 2021 Feb 4;384(5):428-439. doi: 10.1056/NEJMoa1913948. Epub 2021 Jan 20.
- PMID:
- 33471991
- PMCID:
- PMC7611105
Details of each submission
From All of Us Research Program, National Institutes of Health, SCV004815589.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | 1 | not provided | not provided | clinical testing | PubMed (3) |
Description
This missense variant replaces glutamic acid with lysine at codon 1071 of the BRCA1 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been observed in individuals affected with breast and/or ovarian cancer (PMID: 33471991; Leiden Open Variation Database DB-ID BRCA1_002509; UMD database; Color internal data). A multifactorial analysis has reported this variant with posterior probability of being pathogenic of 0.004486 based in part to likelihood ratios of pathogenicity for co-occurrence and health history of one family of 1.0331 and 0.2137, respectively (PMID: 31131967). This variant has been identified in 1/250450 chromosomes 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 26, 2024