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NM_007294.4(BRCA1):c.3211G>A (p.Glu1071Lys) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 29, 2022
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:
RCV000255764.15

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]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000321428GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Uncertain significance
(Apr 29, 2022)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000321428.9

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at a significant frequency in large population cohorts (gnomAD); Observed in an individual with developmental disorders undergoing exome sequencing (Turner et al., 2019); Also known as 3330G>A; This variant is associated with the following publications: (PMID: 25348012, 31785789, 15343273, 31131967)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 26, 2024