NM_007294.4(BRCA1):c.2762A>G (p.Gln921Arg) AND Malignant tumor of breast
- Germline classification:
- Uncertain significance (1 submission)
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV000501257.3
Allele description [Variation Report for NM_007294.4(BRCA1):c.2762A>G (p.Gln921Arg)]
NM_007294.4(BRCA1):c.2762A>G (p.Gln921Arg)
- 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.2762A>G (p.Gln921Arg)
- HGVS:
- NC_000017.11:g.43092769T>C
- NG_005905.2:g.125215A>G
- NM_001407571.1:c.2549A>G
- NM_001407581.1:c.2762A>G
- NM_001407582.1:c.2762A>G
- NM_001407583.1:c.2762A>G
- NM_001407585.1:c.2762A>G
- NM_001407587.1:c.2759A>G
- NM_001407590.1:c.2759A>G
- NM_001407591.1:c.2759A>G
- NM_001407593.1:c.2762A>G
- NM_001407594.1:c.2762A>G
- NM_001407596.1:c.2762A>G
- NM_001407597.1:c.2762A>G
- NM_001407598.1:c.2762A>G
- NM_001407602.1:c.2762A>G
- NM_001407603.1:c.2762A>G
- NM_001407605.1:c.2762A>G
- NM_001407610.1:c.2759A>G
- NM_001407611.1:c.2759A>G
- NM_001407612.1:c.2759A>G
- NM_001407613.1:c.2759A>G
- NM_001407614.1:c.2759A>G
- NM_001407615.1:c.2759A>G
- NM_001407616.1:c.2762A>G
- NM_001407617.1:c.2762A>G
- NM_001407618.1:c.2762A>G
- NM_001407619.1:c.2762A>G
- NM_001407620.1:c.2762A>G
- NM_001407621.1:c.2762A>G
- NM_001407622.1:c.2762A>G
- NM_001407623.1:c.2762A>G
- NM_001407624.1:c.2762A>G
- NM_001407625.1:c.2762A>G
- NM_001407626.1:c.2762A>G
- NM_001407627.1:c.2759A>G
- NM_001407628.1:c.2759A>G
- NM_001407629.1:c.2759A>G
- NM_001407630.1:c.2759A>G
- NM_001407631.1:c.2759A>G
- NM_001407632.1:c.2759A>G
- NM_001407633.1:c.2759A>G
- NM_001407634.1:c.2759A>G
- NM_001407635.1:c.2759A>G
- NM_001407636.1:c.2759A>G
- NM_001407637.1:c.2759A>G
- NM_001407638.1:c.2759A>G
- NM_001407639.1:c.2762A>G
- NM_001407640.1:c.2762A>G
- NM_001407641.1:c.2762A>G
- NM_001407642.1:c.2762A>G
- NM_001407644.1:c.2759A>G
- NM_001407645.1:c.2759A>G
- NM_001407646.1:c.2753A>G
- NM_001407647.1:c.2753A>G
- NM_001407648.1:c.2639A>G
- NM_001407649.1:c.2636A>G
- NM_001407652.1:c.2762A>G
- NM_001407653.1:c.2684A>G
- NM_001407654.1:c.2684A>G
- NM_001407655.1:c.2684A>G
- NM_001407656.1:c.2684A>G
- NM_001407657.1:c.2684A>G
- NM_001407658.1:c.2684A>G
- NM_001407659.1:c.2681A>G
- NM_001407660.1:c.2681A>G
- NM_001407661.1:c.2681A>G
- NM_001407662.1:c.2681A>G
- NM_001407663.1:c.2684A>G
- NM_001407664.1:c.2639A>G
- NM_001407665.1:c.2639A>G
- NM_001407666.1:c.2639A>G
- NM_001407667.1:c.2639A>G
- NM_001407668.1:c.2639A>G
- NM_001407669.1:c.2639A>G
- NM_001407670.1:c.2636A>G
- NM_001407671.1:c.2636A>G
- NM_001407672.1:c.2636A>G
- NM_001407673.1:c.2636A>G
- NM_001407674.1:c.2639A>G
- NM_001407675.1:c.2639A>G
- NM_001407676.1:c.2639A>G
- NM_001407677.1:c.2639A>G
- NM_001407678.1:c.2639A>G
- NM_001407679.1:c.2639A>G
- NM_001407680.1:c.2639A>G
- NM_001407681.1:c.2639A>G
- NM_001407682.1:c.2639A>G
- NM_001407683.1:c.2639A>G
- NM_001407684.1:c.2762A>G
- NM_001407685.1:c.2636A>G
- NM_001407686.1:c.2636A>G
- NM_001407687.1:c.2636A>G
- NM_001407688.1:c.2636A>G
- NM_001407689.1:c.2636A>G
- NM_001407690.1:c.2636A>G
- NM_001407691.1:c.2636A>G
- NM_001407692.1:c.2621A>G
- NM_001407694.1:c.2621A>G
- NM_001407695.1:c.2621A>G
- NM_001407696.1:c.2621A>G
- NM_001407697.1:c.2621A>G
- NM_001407698.1:c.2621A>G
- NM_001407724.1:c.2621A>G
- NM_001407725.1:c.2621A>G
- NM_001407726.1:c.2621A>G
- NM_001407727.1:c.2621A>G
- NM_001407728.1:c.2621A>G
- NM_001407729.1:c.2621A>G
- NM_001407730.1:c.2621A>G
- NM_001407731.1:c.2621A>G
- NM_001407732.1:c.2621A>G
- NM_001407733.1:c.2621A>G
- NM_001407734.1:c.2621A>G
- NM_001407735.1:c.2621A>G
- NM_001407736.1:c.2621A>G
- NM_001407737.1:c.2621A>G
- NM_001407738.1:c.2621A>G
- NM_001407739.1:c.2621A>G
- NM_001407740.1:c.2618A>G
- NM_001407741.1:c.2618A>G
- NM_001407742.1:c.2618A>G
- NM_001407743.1:c.2618A>G
- NM_001407744.1:c.2618A>G
- NM_001407745.1:c.2618A>G
- NM_001407746.1:c.2618A>G
- NM_001407747.1:c.2618A>G
- NM_001407748.1:c.2618A>G
- NM_001407749.1:c.2618A>G
- NM_001407750.1:c.2621A>G
- NM_001407751.1:c.2621A>G
- NM_001407752.1:c.2621A>G
- NM_001407838.1:c.2618A>G
- NM_001407839.1:c.2618A>G
- NM_001407841.1:c.2618A>G
- NM_001407842.1:c.2618A>G
- NM_001407843.1:c.2618A>G
- NM_001407844.1:c.2618A>G
- NM_001407845.1:c.2618A>G
- NM_001407846.1:c.2618A>G
- NM_001407847.1:c.2618A>G
- NM_001407848.1:c.2618A>G
- NM_001407849.1:c.2618A>G
- NM_001407850.1:c.2621A>G
- NM_001407851.1:c.2621A>G
- NM_001407852.1:c.2621A>G
- NM_001407853.1:c.2549A>G
- NM_001407854.1:c.2762A>G
- NM_001407858.1:c.2762A>G
- NM_001407859.1:c.2762A>G
- NM_001407860.1:c.2759A>G
- NM_001407861.1:c.2759A>G
- NM_001407862.1:c.2561A>G
- NM_001407863.1:c.2639A>G
- NM_001407874.1:c.2558A>G
- NM_001407875.1:c.2558A>G
- NM_001407879.1:c.2552A>G
- NM_001407881.1:c.2552A>G
- NM_001407882.1:c.2552A>G
- NM_001407884.1:c.2552A>G
- NM_001407885.1:c.2552A>G
- NM_001407886.1:c.2552A>G
- NM_001407887.1:c.2552A>G
- NM_001407889.1:c.2552A>G
- NM_001407894.1:c.2549A>G
- NM_001407895.1:c.2549A>G
- NM_001407896.1:c.2549A>G
- NM_001407897.1:c.2549A>G
- NM_001407898.1:c.2549A>G
- NM_001407899.1:c.2549A>G
- NM_001407900.1:c.2552A>G
- NM_001407902.1:c.2552A>G
- NM_001407904.1:c.2552A>G
- NM_001407906.1:c.2552A>G
- NM_001407907.1:c.2552A>G
- NM_001407908.1:c.2552A>G
- NM_001407909.1:c.2552A>G
- NM_001407910.1:c.2552A>G
- NM_001407915.1:c.2549A>G
- NM_001407916.1:c.2549A>G
- NM_001407917.1:c.2549A>G
- NM_001407918.1:c.2549A>G
- NM_001407919.1:c.2639A>G
- NM_001407920.1:c.2498A>G
- NM_001407921.1:c.2498A>G
- NM_001407922.1:c.2498A>G
- NM_001407923.1:c.2498A>G
- NM_001407924.1:c.2498A>G
- NM_001407925.1:c.2498A>G
- NM_001407926.1:c.2498A>G
- NM_001407927.1:c.2498A>G
- NM_001407928.1:c.2498A>G
- NM_001407929.1:c.2498A>G
- NM_001407930.1:c.2495A>G
- NM_001407931.1:c.2495A>G
- NM_001407932.1:c.2495A>G
- NM_001407933.1:c.2498A>G
- NM_001407934.1:c.2495A>G
- NM_001407935.1:c.2498A>G
- NM_001407936.1:c.2495A>G
- NM_001407937.1:c.2639A>G
- NM_001407938.1:c.2639A>G
- NM_001407939.1:c.2639A>G
- NM_001407940.1:c.2636A>G
- NM_001407941.1:c.2636A>G
- NM_001407942.1:c.2621A>G
- NM_001407943.1:c.2618A>G
- NM_001407944.1:c.2621A>G
- NM_001407945.1:c.2621A>G
- NM_001407946.1:c.2429A>G
- NM_001407947.1:c.2429A>G
- NM_001407948.1:c.2429A>G
- NM_001407949.1:c.2429A>G
- NM_001407950.1:c.2429A>G
- NM_001407951.1:c.2429A>G
- NM_001407952.1:c.2429A>G
- NM_001407953.1:c.2429A>G
- NM_001407954.1:c.2426A>G
- NM_001407955.1:c.2426A>G
- NM_001407956.1:c.2426A>G
- NM_001407957.1:c.2429A>G
- NM_001407958.1:c.2426A>G
- NM_001407959.1:c.2381A>G
- NM_001407960.1:c.2381A>G
- NM_001407962.1:c.2378A>G
- NM_001407963.1:c.2381A>G
- NM_001407964.1:c.2618A>G
- NM_001407965.1:c.2258A>G
- NM_001407966.1:c.1874A>G
- NM_001407967.1:c.1874A>G
- NM_001407968.1:c.788-630A>G
- NM_001407969.1:c.788-630A>G
- NM_001407970.1:c.788-1737A>G
- NM_001407971.1:c.788-1737A>G
- NM_001407972.1:c.785-1737A>G
- NM_001407973.1:c.788-1737A>G
- NM_001407974.1:c.788-1737A>G
- NM_001407975.1:c.788-1737A>G
- NM_001407976.1:c.788-1737A>G
- NM_001407977.1:c.788-1737A>G
- NM_001407978.1:c.788-1737A>G
- NM_001407979.1:c.788-1737A>G
- NM_001407980.1:c.788-1737A>G
- NM_001407981.1:c.788-1737A>G
- NM_001407982.1:c.788-1737A>G
- NM_001407983.1:c.788-1737A>G
- NM_001407984.1:c.785-1737A>G
- NM_001407985.1:c.785-1737A>G
- NM_001407986.1:c.785-1737A>G
- NM_001407990.1:c.788-1737A>G
- NM_001407991.1:c.785-1737A>G
- NM_001407992.1:c.785-1737A>G
- NM_001407993.1:c.788-1737A>G
- NM_001408392.1:c.785-1737A>G
- NM_001408396.1:c.785-1737A>G
- NM_001408397.1:c.785-1737A>G
- NM_001408398.1:c.785-1737A>G
- NM_001408399.1:c.785-1737A>G
- NM_001408400.1:c.785-1737A>G
- NM_001408401.1:c.785-1737A>G
- NM_001408402.1:c.785-1737A>G
- NM_001408403.1:c.788-1737A>G
- NM_001408404.1:c.788-1737A>G
- NM_001408406.1:c.791-1746A>G
- NM_001408407.1:c.785-1737A>G
- NM_001408408.1:c.779-1737A>G
- NM_001408409.1:c.710-1737A>G
- NM_001408410.1:c.647-1737A>G
- NM_001408411.1:c.710-1737A>G
- NM_001408412.1:c.710-1737A>G
- NM_001408413.1:c.707-1737A>G
- NM_001408414.1:c.710-1737A>G
- NM_001408415.1:c.710-1737A>G
- NM_001408416.1:c.707-1737A>G
- NM_001408418.1:c.671-1737A>G
- NM_001408419.1:c.671-1737A>G
- NM_001408420.1:c.671-1737A>G
- NM_001408421.1:c.668-1737A>G
- NM_001408422.1:c.671-1737A>G
- NM_001408423.1:c.671-1737A>G
- NM_001408424.1:c.668-1737A>G
- NM_001408425.1:c.665-1737A>G
- NM_001408426.1:c.665-1737A>G
- NM_001408427.1:c.665-1737A>G
- NM_001408428.1:c.665-1737A>G
- NM_001408429.1:c.665-1737A>G
- NM_001408430.1:c.665-1737A>G
- NM_001408431.1:c.668-1737A>G
- NM_001408432.1:c.662-1737A>G
- NM_001408433.1:c.662-1737A>G
- NM_001408434.1:c.662-1737A>G
- NM_001408435.1:c.662-1737A>G
- NM_001408436.1:c.665-1737A>G
- NM_001408437.1:c.665-1737A>G
- NM_001408438.1:c.665-1737A>G
- NM_001408439.1:c.665-1737A>G
- NM_001408440.1:c.665-1737A>G
- NM_001408441.1:c.665-1737A>G
- NM_001408442.1:c.665-1737A>G
- NM_001408443.1:c.665-1737A>G
- NM_001408444.1:c.665-1737A>G
- NM_001408445.1:c.662-1737A>G
- NM_001408446.1:c.662-1737A>G
- NM_001408447.1:c.662-1737A>G
- NM_001408448.1:c.662-1737A>G
- NM_001408450.1:c.662-1737A>G
- NM_001408451.1:c.653-1737A>G
- NM_001408452.1:c.647-1737A>G
- NM_001408453.1:c.647-1737A>G
- NM_001408454.1:c.647-1737A>G
- NM_001408455.1:c.647-1737A>G
- NM_001408456.1:c.647-1737A>G
- NM_001408457.1:c.647-1737A>G
- NM_001408458.1:c.647-1737A>G
- NM_001408459.1:c.647-1737A>G
- NM_001408460.1:c.647-1737A>G
- NM_001408461.1:c.647-1737A>G
- NM_001408462.1:c.644-1737A>G
- NM_001408463.1:c.644-1737A>G
- NM_001408464.1:c.644-1737A>G
- NM_001408465.1:c.644-1737A>G
- NM_001408466.1:c.647-1737A>G
- NM_001408467.1:c.647-1737A>G
- NM_001408468.1:c.644-1737A>G
- NM_001408469.1:c.647-1737A>G
- NM_001408470.1:c.644-1737A>G
- NM_001408472.1:c.788-1737A>G
- NM_001408473.1:c.785-1737A>G
- NM_001408474.1:c.587-1737A>G
- NM_001408475.1:c.584-1737A>G
- NM_001408476.1:c.587-1737A>G
- NM_001408478.1:c.578-1737A>G
- NM_001408479.1:c.578-1737A>G
- NM_001408480.1:c.578-1737A>G
- NM_001408481.1:c.578-1737A>G
- NM_001408482.1:c.578-1737A>G
- NM_001408483.1:c.578-1737A>G
- NM_001408484.1:c.578-1737A>G
- NM_001408485.1:c.578-1737A>G
- NM_001408489.1:c.578-1737A>G
- NM_001408490.1:c.575-1737A>G
- NM_001408491.1:c.575-1737A>G
- NM_001408492.1:c.578-1737A>G
- NM_001408493.1:c.575-1737A>G
- NM_001408494.1:c.548-1737A>G
- NM_001408495.1:c.545-1737A>G
- NM_001408496.1:c.524-1737A>G
- NM_001408497.1:c.524-1737A>G
- NM_001408498.1:c.524-1737A>G
- NM_001408499.1:c.524-1737A>G
- NM_001408500.1:c.524-1737A>G
- NM_001408501.1:c.524-1737A>G
- NM_001408502.1:c.455-1737A>G
- NM_001408503.1:c.521-1737A>G
- NM_001408504.1:c.521-1737A>G
- NM_001408505.1:c.521-1737A>G
- NM_001408506.1:c.461-1737A>G
- NM_001408507.1:c.461-1737A>G
- NM_001408508.1:c.452-1737A>G
- NM_001408509.1:c.452-1737A>G
- NM_001408510.1:c.407-1737A>G
- NM_001408511.1:c.404-1737A>G
- NM_001408512.1:c.284-1737A>G
- NM_001408513.1:c.578-1737A>G
- NM_001408514.1:c.578-1737A>G
- NM_007294.4:c.2762A>GMANE SELECT
- NM_007297.4:c.2621A>G
- NM_007298.4:c.788-1737A>G
- NM_007299.4:c.788-1737A>G
- NM_007300.4:c.2762A>G
- NP_001394500.1:p.Gln850Arg
- NP_001394510.1:p.Gln921Arg
- NP_001394511.1:p.Gln921Arg
- NP_001394512.1:p.Gln921Arg
- NP_001394514.1:p.Gln921Arg
- NP_001394516.1:p.Gln920Arg
- NP_001394519.1:p.Gln920Arg
- NP_001394520.1:p.Gln920Arg
- NP_001394522.1:p.Gln921Arg
- NP_001394523.1:p.Gln921Arg
- NP_001394525.1:p.Gln921Arg
- NP_001394526.1:p.Gln921Arg
- NP_001394527.1:p.Gln921Arg
- NP_001394531.1:p.Gln921Arg
- NP_001394532.1:p.Gln921Arg
- NP_001394534.1:p.Gln921Arg
- NP_001394539.1:p.Gln920Arg
- NP_001394540.1:p.Gln920Arg
- NP_001394541.1:p.Gln920Arg
- NP_001394542.1:p.Gln920Arg
- NP_001394543.1:p.Gln920Arg
- NP_001394544.1:p.Gln920Arg
- NP_001394545.1:p.Gln921Arg
- NP_001394546.1:p.Gln921Arg
- NP_001394547.1:p.Gln921Arg
- NP_001394548.1:p.Gln921Arg
- NP_001394549.1:p.Gln921Arg
- NP_001394550.1:p.Gln921Arg
- NP_001394551.1:p.Gln921Arg
- NP_001394552.1:p.Gln921Arg
- NP_001394553.1:p.Gln921Arg
- NP_001394554.1:p.Gln921Arg
- NP_001394555.1:p.Gln921Arg
- NP_001394556.1:p.Gln920Arg
- NP_001394557.1:p.Gln920Arg
- NP_001394558.1:p.Gln920Arg
- NP_001394559.1:p.Gln920Arg
- NP_001394560.1:p.Gln920Arg
- NP_001394561.1:p.Gln920Arg
- NP_001394562.1:p.Gln920Arg
- NP_001394563.1:p.Gln920Arg
- NP_001394564.1:p.Gln920Arg
- NP_001394565.1:p.Gln920Arg
- NP_001394566.1:p.Gln920Arg
- NP_001394567.1:p.Gln920Arg
- NP_001394568.1:p.Gln921Arg
- NP_001394569.1:p.Gln921Arg
- NP_001394570.1:p.Gln921Arg
- NP_001394571.1:p.Gln921Arg
- NP_001394573.1:p.Gln920Arg
- NP_001394574.1:p.Gln920Arg
- NP_001394575.1:p.Gln918Arg
- NP_001394576.1:p.Gln918Arg
- NP_001394577.1:p.Gln880Arg
- NP_001394578.1:p.Gln879Arg
- NP_001394581.1:p.Gln921Arg
- NP_001394582.1:p.Gln895Arg
- NP_001394583.1:p.Gln895Arg
- NP_001394584.1:p.Gln895Arg
- NP_001394585.1:p.Gln895Arg
- NP_001394586.1:p.Gln895Arg
- NP_001394587.1:p.Gln895Arg
- NP_001394588.1:p.Gln894Arg
- NP_001394589.1:p.Gln894Arg
- NP_001394590.1:p.Gln894Arg
- NP_001394591.1:p.Gln894Arg
- NP_001394592.1:p.Gln895Arg
- NP_001394593.1:p.Gln880Arg
- NP_001394594.1:p.Gln880Arg
- NP_001394595.1:p.Gln880Arg
- NP_001394596.1:p.Gln880Arg
- NP_001394597.1:p.Gln880Arg
- NP_001394598.1:p.Gln880Arg
- NP_001394599.1:p.Gln879Arg
- NP_001394600.1:p.Gln879Arg
- NP_001394601.1:p.Gln879Arg
- NP_001394602.1:p.Gln879Arg
- NP_001394603.1:p.Gln880Arg
- NP_001394604.1:p.Gln880Arg
- NP_001394605.1:p.Gln880Arg
- NP_001394606.1:p.Gln880Arg
- NP_001394607.1:p.Gln880Arg
- NP_001394608.1:p.Gln880Arg
- NP_001394609.1:p.Gln880Arg
- NP_001394610.1:p.Gln880Arg
- NP_001394611.1:p.Gln880Arg
- NP_001394612.1:p.Gln880Arg
- NP_001394613.1:p.Gln921Arg
- NP_001394614.1:p.Gln879Arg
- NP_001394615.1:p.Gln879Arg
- NP_001394616.1:p.Gln879Arg
- NP_001394617.1:p.Gln879Arg
- NP_001394618.1:p.Gln879Arg
- NP_001394619.1:p.Gln879Arg
- NP_001394620.1:p.Gln879Arg
- NP_001394621.1:p.Gln874Arg
- NP_001394623.1:p.Gln874Arg
- NP_001394624.1:p.Gln874Arg
- NP_001394625.1:p.Gln874Arg
- NP_001394626.1:p.Gln874Arg
- NP_001394627.1:p.Gln874Arg
- NP_001394653.1:p.Gln874Arg
- NP_001394654.1:p.Gln874Arg
- NP_001394655.1:p.Gln874Arg
- NP_001394656.1:p.Gln874Arg
- NP_001394657.1:p.Gln874Arg
- NP_001394658.1:p.Gln874Arg
- NP_001394659.1:p.Gln874Arg
- NP_001394660.1:p.Gln874Arg
- NP_001394661.1:p.Gln874Arg
- NP_001394662.1:p.Gln874Arg
- NP_001394663.1:p.Gln874Arg
- NP_001394664.1:p.Gln874Arg
- NP_001394665.1:p.Gln874Arg
- NP_001394666.1:p.Gln874Arg
- NP_001394667.1:p.Gln874Arg
- NP_001394668.1:p.Gln874Arg
- NP_001394669.1:p.Gln873Arg
- NP_001394670.1:p.Gln873Arg
- NP_001394671.1:p.Gln873Arg
- NP_001394672.1:p.Gln873Arg
- NP_001394673.1:p.Gln873Arg
- NP_001394674.1:p.Gln873Arg
- NP_001394675.1:p.Gln873Arg
- NP_001394676.1:p.Gln873Arg
- NP_001394677.1:p.Gln873Arg
- NP_001394678.1:p.Gln873Arg
- NP_001394679.1:p.Gln874Arg
- NP_001394680.1:p.Gln874Arg
- NP_001394681.1:p.Gln874Arg
- NP_001394767.1:p.Gln873Arg
- NP_001394768.1:p.Gln873Arg
- NP_001394770.1:p.Gln873Arg
- NP_001394771.1:p.Gln873Arg
- NP_001394772.1:p.Gln873Arg
- NP_001394773.1:p.Gln873Arg
- NP_001394774.1:p.Gln873Arg
- NP_001394775.1:p.Gln873Arg
- NP_001394776.1:p.Gln873Arg
- NP_001394777.1:p.Gln873Arg
- NP_001394778.1:p.Gln873Arg
- NP_001394779.1:p.Gln874Arg
- NP_001394780.1:p.Gln874Arg
- NP_001394781.1:p.Gln874Arg
- NP_001394782.1:p.Gln850Arg
- NP_001394783.1:p.Gln921Arg
- NP_001394787.1:p.Gln921Arg
- NP_001394788.1:p.Gln921Arg
- NP_001394789.1:p.Gln920Arg
- NP_001394790.1:p.Gln920Arg
- NP_001394791.1:p.Gln854Arg
- NP_001394792.1:p.Gln880Arg
- NP_001394803.1:p.Gln853Arg
- NP_001394804.1:p.Gln853Arg
- NP_001394808.1:p.Gln851Arg
- NP_001394810.1:p.Gln851Arg
- NP_001394811.1:p.Gln851Arg
- NP_001394813.1:p.Gln851Arg
- NP_001394814.1:p.Gln851Arg
- NP_001394815.1:p.Gln851Arg
- NP_001394816.1:p.Gln851Arg
- NP_001394818.1:p.Gln851Arg
- NP_001394823.1:p.Gln850Arg
- NP_001394824.1:p.Gln850Arg
- NP_001394825.1:p.Gln850Arg
- NP_001394826.1:p.Gln850Arg
- NP_001394827.1:p.Gln850Arg
- NP_001394828.1:p.Gln850Arg
- NP_001394829.1:p.Gln851Arg
- NP_001394831.1:p.Gln851Arg
- NP_001394833.1:p.Gln851Arg
- NP_001394835.1:p.Gln851Arg
- NP_001394836.1:p.Gln851Arg
- NP_001394837.1:p.Gln851Arg
- NP_001394838.1:p.Gln851Arg
- NP_001394839.1:p.Gln851Arg
- NP_001394844.1:p.Gln850Arg
- NP_001394845.1:p.Gln850Arg
- NP_001394846.1:p.Gln850Arg
- NP_001394847.1:p.Gln850Arg
- NP_001394848.1:p.Gln880Arg
- NP_001394849.1:p.Gln833Arg
- NP_001394850.1:p.Gln833Arg
- NP_001394851.1:p.Gln833Arg
- NP_001394852.1:p.Gln833Arg
- NP_001394853.1:p.Gln833Arg
- NP_001394854.1:p.Gln833Arg
- NP_001394855.1:p.Gln833Arg
- NP_001394856.1:p.Gln833Arg
- NP_001394857.1:p.Gln833Arg
- NP_001394858.1:p.Gln833Arg
- NP_001394859.1:p.Gln832Arg
- NP_001394860.1:p.Gln832Arg
- NP_001394861.1:p.Gln832Arg
- NP_001394862.1:p.Gln833Arg
- NP_001394863.1:p.Gln832Arg
- NP_001394864.1:p.Gln833Arg
- NP_001394865.1:p.Gln832Arg
- NP_001394866.1:p.Gln880Arg
- NP_001394867.1:p.Gln880Arg
- NP_001394868.1:p.Gln880Arg
- NP_001394869.1:p.Gln879Arg
- NP_001394870.1:p.Gln879Arg
- NP_001394871.1:p.Gln874Arg
- NP_001394872.1:p.Gln873Arg
- NP_001394873.1:p.Gln874Arg
- NP_001394874.1:p.Gln874Arg
- NP_001394875.1:p.Gln810Arg
- NP_001394876.1:p.Gln810Arg
- NP_001394877.1:p.Gln810Arg
- NP_001394878.1:p.Gln810Arg
- NP_001394879.1:p.Gln810Arg
- NP_001394880.1:p.Gln810Arg
- NP_001394881.1:p.Gln810Arg
- NP_001394882.1:p.Gln810Arg
- NP_001394883.1:p.Gln809Arg
- NP_001394884.1:p.Gln809Arg
- NP_001394885.1:p.Gln809Arg
- NP_001394886.1:p.Gln810Arg
- NP_001394887.1:p.Gln809Arg
- NP_001394888.1:p.Gln794Arg
- NP_001394889.1:p.Gln794Arg
- NP_001394891.1:p.Gln793Arg
- NP_001394892.1:p.Gln794Arg
- NP_001394893.1:p.Gln873Arg
- NP_001394894.1:p.Gln753Arg
- NP_001394895.1:p.Gln625Arg
- NP_001394896.1:p.Gln625Arg
- NP_009225.1:p.Gln921Arg
- NP_009225.1:p.Gln921Arg
- NP_009228.2:p.Gln874Arg
- NP_009231.2:p.Gln921Arg
- LRG_292t1:c.2762A>G
- LRG_292:g.125215A>G
- LRG_292p1:p.Gln921Arg
- NC_000017.10:g.41244786T>C
- NM_007294.3:c.2762A>G
- NR_027676.1:n.2898A>G
This HGVS expression did not pass validation- Protein change:
- Q625R
- Links:
- dbSNP: rs1555588991
- NCBI 1000 Genomes Browser:
- rs1555588991
- Molecular consequence:
- NM_001407968.1:c.788-630A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407969.1:c.788-630A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407970.1:c.788-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407971.1:c.788-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407972.1:c.785-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407973.1:c.788-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407974.1:c.788-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407975.1:c.788-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407976.1:c.788-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407977.1:c.788-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407978.1:c.788-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407979.1:c.788-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407980.1:c.788-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407981.1:c.788-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407982.1:c.788-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407983.1:c.788-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407984.1:c.785-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407985.1:c.785-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407986.1:c.785-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407990.1:c.788-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407991.1:c.785-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407992.1:c.785-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407993.1:c.788-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408392.1:c.785-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408396.1:c.785-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408397.1:c.785-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408398.1:c.785-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408399.1:c.785-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408400.1:c.785-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408401.1:c.785-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408402.1:c.785-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408403.1:c.788-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408404.1:c.788-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408406.1:c.791-1746A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408407.1:c.785-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408408.1:c.779-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408409.1:c.710-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408410.1:c.647-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408411.1:c.710-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408412.1:c.710-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408413.1:c.707-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408414.1:c.710-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408415.1:c.710-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408416.1:c.707-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408418.1:c.671-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408419.1:c.671-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408420.1:c.671-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408421.1:c.668-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408422.1:c.671-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408423.1:c.671-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408424.1:c.668-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408425.1:c.665-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408426.1:c.665-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408427.1:c.665-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408428.1:c.665-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408429.1:c.665-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408430.1:c.665-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408431.1:c.668-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408432.1:c.662-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408433.1:c.662-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408434.1:c.662-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408435.1:c.662-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408436.1:c.665-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408437.1:c.665-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408438.1:c.665-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408439.1:c.665-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408440.1:c.665-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408441.1:c.665-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408442.1:c.665-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408443.1:c.665-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408444.1:c.665-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408445.1:c.662-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408446.1:c.662-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408447.1:c.662-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408448.1:c.662-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408450.1:c.662-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408451.1:c.653-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408452.1:c.647-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408453.1:c.647-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408454.1:c.647-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408455.1:c.647-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408456.1:c.647-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408457.1:c.647-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408458.1:c.647-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408459.1:c.647-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408460.1:c.647-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408461.1:c.647-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408462.1:c.644-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408463.1:c.644-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408464.1:c.644-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408465.1:c.644-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408466.1:c.647-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408467.1:c.647-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408468.1:c.644-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408469.1:c.647-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408470.1:c.644-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408472.1:c.788-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408473.1:c.785-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408474.1:c.587-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408475.1:c.584-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408476.1:c.587-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408478.1:c.578-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408479.1:c.578-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408480.1:c.578-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408481.1:c.578-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408482.1:c.578-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408483.1:c.578-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408484.1:c.578-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408485.1:c.578-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408489.1:c.578-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408490.1:c.575-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408491.1:c.575-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408492.1:c.578-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408493.1:c.575-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408494.1:c.548-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408495.1:c.545-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408496.1:c.524-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408497.1:c.524-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408498.1:c.524-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408499.1:c.524-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408500.1:c.524-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408501.1:c.524-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408502.1:c.455-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408503.1:c.521-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408504.1:c.521-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408505.1:c.521-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408506.1:c.461-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408507.1:c.461-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408508.1:c.452-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408509.1:c.452-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408510.1:c.407-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408511.1:c.404-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408512.1:c.284-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408513.1:c.578-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408514.1:c.578-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_007298.4:c.788-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_007299.4:c.788-1737A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407571.1:c.2549A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407581.1:c.2762A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407582.1:c.2762A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407583.1:c.2762A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407585.1:c.2762A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407587.1:c.2759A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407590.1:c.2759A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407591.1:c.2759A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407593.1:c.2762A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407594.1:c.2762A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407596.1:c.2762A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407597.1:c.2762A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407598.1:c.2762A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407602.1:c.2762A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407603.1:c.2762A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407605.1:c.2762A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407610.1:c.2759A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407611.1:c.2759A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407612.1:c.2759A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407613.1:c.2759A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407614.1:c.2759A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407615.1:c.2759A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407616.1:c.2762A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407617.1:c.2762A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407618.1:c.2762A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407619.1:c.2762A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407620.1:c.2762A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407621.1:c.2762A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407622.1:c.2762A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407623.1:c.2762A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407624.1:c.2762A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407625.1:c.2762A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407626.1:c.2762A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407627.1:c.2759A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407628.1:c.2759A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407629.1:c.2759A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407630.1:c.2759A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407631.1:c.2759A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407632.1:c.2759A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407633.1:c.2759A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407634.1:c.2759A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407635.1:c.2759A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407636.1:c.2759A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407637.1:c.2759A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407638.1:c.2759A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407639.1:c.2762A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407640.1:c.2762A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407641.1:c.2762A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407642.1:c.2762A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407644.1:c.2759A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407645.1:c.2759A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407646.1:c.2753A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407647.1:c.2753A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407648.1:c.2639A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407649.1:c.2636A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407652.1:c.2762A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407653.1:c.2684A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407654.1:c.2684A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407655.1:c.2684A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407656.1:c.2684A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407657.1:c.2684A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407658.1:c.2684A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407659.1:c.2681A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407660.1:c.2681A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407661.1:c.2681A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407662.1:c.2681A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407663.1:c.2684A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407664.1:c.2639A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407665.1:c.2639A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407666.1:c.2639A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407667.1:c.2639A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407668.1:c.2639A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407669.1:c.2639A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407670.1:c.2636A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407671.1:c.2636A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407672.1:c.2636A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407673.1:c.2636A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407674.1:c.2639A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407675.1:c.2639A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407676.1:c.2639A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407677.1:c.2639A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407678.1:c.2639A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407679.1:c.2639A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407680.1:c.2639A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407681.1:c.2639A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407682.1:c.2639A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407683.1:c.2639A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407684.1:c.2762A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407685.1:c.2636A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407686.1:c.2636A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407687.1:c.2636A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407688.1:c.2636A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407689.1:c.2636A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407690.1:c.2636A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407691.1:c.2636A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407692.1:c.2621A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407694.1:c.2621A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407695.1:c.2621A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407696.1:c.2621A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407697.1:c.2621A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407698.1:c.2621A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407724.1:c.2621A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407725.1:c.2621A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407726.1:c.2621A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407727.1:c.2621A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407728.1:c.2621A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407729.1:c.2621A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407730.1:c.2621A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407731.1:c.2621A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407732.1:c.2621A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407733.1:c.2621A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407734.1:c.2621A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407735.1:c.2621A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407736.1:c.2621A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407737.1:c.2621A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407738.1:c.2621A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407739.1:c.2621A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407740.1:c.2618A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407741.1:c.2618A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407742.1:c.2618A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407743.1:c.2618A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407744.1:c.2618A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407745.1:c.2618A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407746.1:c.2618A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407747.1:c.2618A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407748.1:c.2618A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407749.1:c.2618A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407750.1:c.2621A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407751.1:c.2621A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407752.1:c.2621A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407838.1:c.2618A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407839.1:c.2618A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407841.1:c.2618A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407842.1:c.2618A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407843.1:c.2618A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407844.1:c.2618A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407845.1:c.2618A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407846.1:c.2618A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407847.1:c.2618A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407848.1:c.2618A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407849.1:c.2618A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407850.1:c.2621A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407851.1:c.2621A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407852.1:c.2621A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407853.1:c.2549A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407854.1:c.2762A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407858.1:c.2762A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407859.1:c.2762A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407860.1:c.2759A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407861.1:c.2759A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407862.1:c.2561A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407863.1:c.2639A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407874.1:c.2558A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407875.1:c.2558A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407879.1:c.2552A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407881.1:c.2552A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407882.1:c.2552A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407884.1:c.2552A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407885.1:c.2552A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407886.1:c.2552A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407887.1:c.2552A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407889.1:c.2552A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407894.1:c.2549A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407895.1:c.2549A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407896.1:c.2549A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407897.1:c.2549A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407898.1:c.2549A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407899.1:c.2549A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407900.1:c.2552A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407902.1:c.2552A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407904.1:c.2552A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407906.1:c.2552A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407907.1:c.2552A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407908.1:c.2552A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407909.1:c.2552A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407910.1:c.2552A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407915.1:c.2549A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407916.1:c.2549A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407917.1:c.2549A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407918.1:c.2549A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407919.1:c.2639A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407920.1:c.2498A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407921.1:c.2498A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407922.1:c.2498A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407923.1:c.2498A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407924.1:c.2498A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407925.1:c.2498A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407926.1:c.2498A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407927.1:c.2498A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407928.1:c.2498A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407929.1:c.2498A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407930.1:c.2495A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407931.1:c.2495A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407932.1:c.2495A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407933.1:c.2498A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407934.1:c.2495A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407935.1:c.2498A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407936.1:c.2495A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407937.1:c.2639A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407938.1:c.2639A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407939.1:c.2639A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407940.1:c.2636A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407941.1:c.2636A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407942.1:c.2621A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407943.1:c.2618A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407944.1:c.2621A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407945.1:c.2621A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407946.1:c.2429A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407947.1:c.2429A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407948.1:c.2429A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407949.1:c.2429A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407950.1:c.2429A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407951.1:c.2429A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407952.1:c.2429A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407953.1:c.2429A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407954.1:c.2426A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407955.1:c.2426A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407956.1:c.2426A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407957.1:c.2429A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407958.1:c.2426A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407959.1:c.2381A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407960.1:c.2381A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407962.1:c.2378A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407963.1:c.2381A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407964.1:c.2618A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407965.1:c.2258A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407966.1:c.1874A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407967.1:c.1874A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007294.4:c.2762A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007297.4:c.2621A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007300.4:c.2762A>G - missense variant - [Sequence Ontology: SO:0001583]
Condition(s)
- Name:
- Malignant tumor of breast
- Synonyms:
- Malignant breast neoplasm; Cancer breast
- Identifiers:
- MONDO: MONDO:0007254; MedGen: C0006142
-
hypothetical protein ECGD1_166 [Enterobacteria phage ECGD1]
hypothetical protein ECGD1_166 [Enterobacteria phage ECGD1]gi|1001940552|gb|AMM43492.1|Protein
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See more...Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000591409 | Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR)
| no assertion criteria provided | Uncertain significance | unknown | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | unknown | yes | not provided | not provided | not provided | not provided | not provided | clinical testing |
Details of each submission
From Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV000591409.2
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
Description
The BRCA1 p.Gln921Arg variant was not identified in the literature nor was it identified in the dbSNP, NHLBI Exome Sequencing Project (Exome Variant Server), HGMD, LOVD, COSMIC, UMD, or BIC databases. The p.Gln921 residue is conserved in mammals but not across lower organisms, and computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM, MutationTaster) do not suggest a high likelihood of impact to the protein; this information is not very predictive of pathogenicity. In summary, based on the above information, the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of unknown significance.
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | unknown | yes | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
Last Updated: Jul 15, 2024