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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 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no 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
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)

Name:
Breast-ovarian cancer, familial, susceptibility to, 1 (BROVCA1)
Synonyms:
OVARIAN CANCER, SUSCEPTIBILITY TO; Breast cancer, familial 1
Identifiers:
MONDO: MONDO:0011450; MedGen: C2676676; Orphanet: 145; OMIM: 604370

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004815589All of Us Research Program, National Institutes of Health
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain Significance
(Apr 3, 2023)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided108544not providedclinical testing

Citations

PubMed

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

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.

PubMed [citation]
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.

PubMed [citation]
PMID:
33471991
PMCID:
PMC7611105
See all PubMed Citations (3)

Details of each submission

From All of Us Research Program, National Institutes of Health, SCV004815589.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical 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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown108544not providednot provided1not providednot providednot provided

Last Updated: Oct 26, 2024