NM_007294.4(BRCA1):c.4061A>G (p.Asn1354Ser) AND not provided
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 22, 2016
- Review status:
- 1 star out of maximum of 4 starscriteria provided, single submitter
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV000587065.2
Allele description [Variation Report for NM_007294.4(BRCA1):c.4061A>G (p.Asn1354Ser)]
NM_007294.4(BRCA1):c.4061A>G (p.Asn1354Ser)
- Genes:
- BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
LOC126862571:BRD4-independent group 4 enhancer GRCh37_chr17:41243136-41244335 [Gene] - Variant type:
- single nucleotide variant
- Cytogenetic location:
- 17q21.31
- Genomic location:
- Preferred name:
- NM_007294.4(BRCA1):c.4061A>G (p.Asn1354Ser)
- HGVS:
- NC_000017.11:g.43091470T>C
- NG_005905.2:g.126514A>G
- NG_087068.1:g.452T>C
- NM_001407571.1:c.3848A>G
- NM_001407581.1:c.4061A>G
- NM_001407582.1:c.4061A>G
- NM_001407583.1:c.4061A>G
- NM_001407585.1:c.4061A>G
- NM_001407587.1:c.4058A>G
- NM_001407590.1:c.4058A>G
- NM_001407591.1:c.4058A>G
- NM_001407593.1:c.4061A>G
- NM_001407594.1:c.4061A>G
- NM_001407596.1:c.4061A>G
- NM_001407597.1:c.4061A>G
- NM_001407598.1:c.4061A>G
- NM_001407602.1:c.4061A>G
- NM_001407603.1:c.4061A>G
- NM_001407605.1:c.4061A>G
- NM_001407610.1:c.4058A>G
- NM_001407611.1:c.4058A>G
- NM_001407612.1:c.4058A>G
- NM_001407613.1:c.4058A>G
- NM_001407614.1:c.4058A>G
- NM_001407615.1:c.4058A>G
- NM_001407616.1:c.4061A>G
- NM_001407617.1:c.4061A>G
- NM_001407618.1:c.4061A>G
- NM_001407619.1:c.4061A>G
- NM_001407620.1:c.4061A>G
- NM_001407621.1:c.4061A>G
- NM_001407622.1:c.4061A>G
- NM_001407623.1:c.4061A>G
- NM_001407624.1:c.4061A>G
- NM_001407625.1:c.4061A>G
- NM_001407626.1:c.4061A>G
- NM_001407627.1:c.4058A>G
- NM_001407628.1:c.4058A>G
- NM_001407629.1:c.4058A>G
- NM_001407630.1:c.4058A>G
- NM_001407631.1:c.4058A>G
- NM_001407632.1:c.4058A>G
- NM_001407633.1:c.4058A>G
- NM_001407634.1:c.4058A>G
- NM_001407635.1:c.4058A>G
- NM_001407636.1:c.4058A>G
- NM_001407637.1:c.4058A>G
- NM_001407638.1:c.4058A>G
- NM_001407639.1:c.4061A>G
- NM_001407640.1:c.4061A>G
- NM_001407641.1:c.4061A>G
- NM_001407642.1:c.4061A>G
- NM_001407644.1:c.4058A>G
- NM_001407645.1:c.4058A>G
- NM_001407646.1:c.4052A>G
- NM_001407647.1:c.4052A>G
- NM_001407648.1:c.3938A>G
- NM_001407649.1:c.3935A>G
- NM_001407652.1:c.4061A>G
- NM_001407653.1:c.3983A>G
- NM_001407654.1:c.3983A>G
- NM_001407655.1:c.3983A>G
- NM_001407656.1:c.3983A>G
- NM_001407657.1:c.3983A>G
- NM_001407658.1:c.3983A>G
- NM_001407659.1:c.3980A>G
- NM_001407660.1:c.3980A>G
- NM_001407661.1:c.3980A>G
- NM_001407662.1:c.3980A>G
- NM_001407663.1:c.3983A>G
- NM_001407664.1:c.3938A>G
- NM_001407665.1:c.3938A>G
- NM_001407666.1:c.3938A>G
- NM_001407667.1:c.3938A>G
- NM_001407668.1:c.3938A>G
- NM_001407669.1:c.3938A>G
- NM_001407670.1:c.3935A>G
- NM_001407671.1:c.3935A>G
- NM_001407672.1:c.3935A>G
- NM_001407673.1:c.3935A>G
- NM_001407674.1:c.3938A>G
- NM_001407675.1:c.3938A>G
- NM_001407676.1:c.3938A>G
- NM_001407677.1:c.3938A>G
- NM_001407678.1:c.3938A>G
- NM_001407679.1:c.3938A>G
- NM_001407680.1:c.3938A>G
- NM_001407681.1:c.3938A>G
- NM_001407682.1:c.3938A>G
- NM_001407683.1:c.3938A>G
- NM_001407684.1:c.4061A>G
- NM_001407685.1:c.3935A>G
- NM_001407686.1:c.3935A>G
- NM_001407687.1:c.3935A>G
- NM_001407688.1:c.3935A>G
- NM_001407689.1:c.3935A>G
- NM_001407690.1:c.3935A>G
- NM_001407691.1:c.3935A>G
- NM_001407692.1:c.3920A>G
- NM_001407694.1:c.3920A>G
- NM_001407695.1:c.3920A>G
- NM_001407696.1:c.3920A>G
- NM_001407697.1:c.3920A>G
- NM_001407698.1:c.3920A>G
- NM_001407724.1:c.3920A>G
- NM_001407725.1:c.3920A>G
- NM_001407726.1:c.3920A>G
- NM_001407727.1:c.3920A>G
- NM_001407728.1:c.3920A>G
- NM_001407729.1:c.3920A>G
- NM_001407730.1:c.3920A>G
- NM_001407731.1:c.3920A>G
- NM_001407732.1:c.3920A>G
- NM_001407733.1:c.3920A>G
- NM_001407734.1:c.3920A>G
- NM_001407735.1:c.3920A>G
- NM_001407736.1:c.3920A>G
- NM_001407737.1:c.3920A>G
- NM_001407738.1:c.3920A>G
- NM_001407739.1:c.3920A>G
- NM_001407740.1:c.3917A>G
- NM_001407741.1:c.3917A>G
- NM_001407742.1:c.3917A>G
- NM_001407743.1:c.3917A>G
- NM_001407744.1:c.3917A>G
- NM_001407745.1:c.3917A>G
- NM_001407746.1:c.3917A>G
- NM_001407747.1:c.3917A>G
- NM_001407748.1:c.3917A>G
- NM_001407749.1:c.3917A>G
- NM_001407750.1:c.3920A>G
- NM_001407751.1:c.3920A>G
- NM_001407752.1:c.3920A>G
- NM_001407838.1:c.3917A>G
- NM_001407839.1:c.3917A>G
- NM_001407841.1:c.3917A>G
- NM_001407842.1:c.3917A>G
- NM_001407843.1:c.3917A>G
- NM_001407844.1:c.3917A>G
- NM_001407845.1:c.3917A>G
- NM_001407846.1:c.3917A>G
- NM_001407847.1:c.3917A>G
- NM_001407848.1:c.3917A>G
- NM_001407849.1:c.3917A>G
- NM_001407850.1:c.3920A>G
- NM_001407851.1:c.3920A>G
- NM_001407852.1:c.3920A>G
- NM_001407853.1:c.3848A>G
- NM_001407854.1:c.4061A>G
- NM_001407858.1:c.4061A>G
- NM_001407859.1:c.4061A>G
- NM_001407860.1:c.4058A>G
- NM_001407861.1:c.4058A>G
- NM_001407862.1:c.3860A>G
- NM_001407863.1:c.3938A>G
- NM_001407874.1:c.3857A>G
- NM_001407875.1:c.3857A>G
- NM_001407879.1:c.3851A>G
- NM_001407881.1:c.3851A>G
- NM_001407882.1:c.3851A>G
- NM_001407884.1:c.3851A>G
- NM_001407885.1:c.3851A>G
- NM_001407886.1:c.3851A>G
- NM_001407887.1:c.3851A>G
- NM_001407889.1:c.3851A>G
- NM_001407894.1:c.3848A>G
- NM_001407895.1:c.3848A>G
- NM_001407896.1:c.3848A>G
- NM_001407897.1:c.3848A>G
- NM_001407898.1:c.3848A>G
- NM_001407899.1:c.3848A>G
- NM_001407900.1:c.3851A>G
- NM_001407902.1:c.3851A>G
- NM_001407904.1:c.3851A>G
- NM_001407906.1:c.3851A>G
- NM_001407907.1:c.3851A>G
- NM_001407908.1:c.3851A>G
- NM_001407909.1:c.3851A>G
- NM_001407910.1:c.3851A>G
- NM_001407915.1:c.3848A>G
- NM_001407916.1:c.3848A>G
- NM_001407917.1:c.3848A>G
- NM_001407918.1:c.3848A>G
- NM_001407919.1:c.3938A>G
- NM_001407920.1:c.3797A>G
- NM_001407921.1:c.3797A>G
- NM_001407922.1:c.3797A>G
- NM_001407923.1:c.3797A>G
- NM_001407924.1:c.3797A>G
- NM_001407925.1:c.3797A>G
- NM_001407926.1:c.3797A>G
- NM_001407927.1:c.3797A>G
- NM_001407928.1:c.3797A>G
- NM_001407929.1:c.3797A>G
- NM_001407930.1:c.3794A>G
- NM_001407931.1:c.3794A>G
- NM_001407932.1:c.3794A>G
- NM_001407933.1:c.3797A>G
- NM_001407934.1:c.3794A>G
- NM_001407935.1:c.3797A>G
- NM_001407936.1:c.3794A>G
- NM_001407937.1:c.3938A>G
- NM_001407938.1:c.3938A>G
- NM_001407939.1:c.3938A>G
- NM_001407940.1:c.3935A>G
- NM_001407941.1:c.3935A>G
- NM_001407942.1:c.3920A>G
- NM_001407943.1:c.3917A>G
- NM_001407944.1:c.3920A>G
- NM_001407945.1:c.3920A>G
- NM_001407946.1:c.3728A>G
- NM_001407947.1:c.3728A>G
- NM_001407948.1:c.3728A>G
- NM_001407949.1:c.3728A>G
- NM_001407950.1:c.3728A>G
- NM_001407951.1:c.3728A>G
- NM_001407952.1:c.3728A>G
- NM_001407953.1:c.3728A>G
- NM_001407954.1:c.3725A>G
- NM_001407955.1:c.3725A>G
- NM_001407956.1:c.3725A>G
- NM_001407957.1:c.3728A>G
- NM_001407958.1:c.3725A>G
- NM_001407959.1:c.3680A>G
- NM_001407960.1:c.3680A>G
- NM_001407962.1:c.3677A>G
- NM_001407963.1:c.3680A>G
- NM_001407964.1:c.3917A>G
- NM_001407965.1:c.3557A>G
- NM_001407966.1:c.3173A>G
- NM_001407967.1:c.3173A>G
- NM_001407968.1:c.1457A>G
- NM_001407969.1:c.1457A>G
- NM_001407970.1:c.788-438A>G
- NM_001407971.1:c.788-438A>G
- NM_001407972.1:c.785-438A>G
- NM_001407973.1:c.788-438A>G
- NM_001407974.1:c.788-438A>G
- NM_001407975.1:c.788-438A>G
- NM_001407976.1:c.788-438A>G
- NM_001407977.1:c.788-438A>G
- NM_001407978.1:c.788-438A>G
- NM_001407979.1:c.788-438A>G
- NM_001407980.1:c.788-438A>G
- NM_001407981.1:c.788-438A>G
- NM_001407982.1:c.788-438A>G
- NM_001407983.1:c.788-438A>G
- NM_001407984.1:c.785-438A>G
- NM_001407985.1:c.785-438A>G
- NM_001407986.1:c.785-438A>G
- NM_001407990.1:c.788-438A>G
- NM_001407991.1:c.785-438A>G
- NM_001407992.1:c.785-438A>G
- NM_001407993.1:c.788-438A>G
- NM_001408392.1:c.785-438A>G
- NM_001408396.1:c.785-438A>G
- NM_001408397.1:c.785-438A>G
- NM_001408398.1:c.785-438A>G
- NM_001408399.1:c.785-438A>G
- NM_001408400.1:c.785-438A>G
- NM_001408401.1:c.785-438A>G
- NM_001408402.1:c.785-438A>G
- NM_001408403.1:c.788-438A>G
- NM_001408404.1:c.788-438A>G
- NM_001408406.1:c.791-447A>G
- NM_001408407.1:c.785-438A>G
- NM_001408408.1:c.779-438A>G
- NM_001408409.1:c.710-438A>G
- NM_001408410.1:c.647-438A>G
- NM_001408411.1:c.710-438A>G
- NM_001408412.1:c.710-438A>G
- NM_001408413.1:c.707-438A>G
- NM_001408414.1:c.710-438A>G
- NM_001408415.1:c.710-438A>G
- NM_001408416.1:c.707-438A>G
- NM_001408418.1:c.671-438A>G
- NM_001408419.1:c.671-438A>G
- NM_001408420.1:c.671-438A>G
- NM_001408421.1:c.668-438A>G
- NM_001408422.1:c.671-438A>G
- NM_001408423.1:c.671-438A>G
- NM_001408424.1:c.668-438A>G
- NM_001408425.1:c.665-438A>G
- NM_001408426.1:c.665-438A>G
- NM_001408427.1:c.665-438A>G
- NM_001408428.1:c.665-438A>G
- NM_001408429.1:c.665-438A>G
- NM_001408430.1:c.665-438A>G
- NM_001408431.1:c.668-438A>G
- NM_001408432.1:c.662-438A>G
- NM_001408433.1:c.662-438A>G
- NM_001408434.1:c.662-438A>G
- NM_001408435.1:c.662-438A>G
- NM_001408436.1:c.665-438A>G
- NM_001408437.1:c.665-438A>G
- NM_001408438.1:c.665-438A>G
- NM_001408439.1:c.665-438A>G
- NM_001408440.1:c.665-438A>G
- NM_001408441.1:c.665-438A>G
- NM_001408442.1:c.665-438A>G
- NM_001408443.1:c.665-438A>G
- NM_001408444.1:c.665-438A>G
- NM_001408445.1:c.662-438A>G
- NM_001408446.1:c.662-438A>G
- NM_001408447.1:c.662-438A>G
- NM_001408448.1:c.662-438A>G
- NM_001408450.1:c.662-438A>G
- NM_001408451.1:c.653-438A>G
- NM_001408452.1:c.647-438A>G
- NM_001408453.1:c.647-438A>G
- NM_001408454.1:c.647-438A>G
- NM_001408455.1:c.647-438A>G
- NM_001408456.1:c.647-438A>G
- NM_001408457.1:c.647-438A>G
- NM_001408458.1:c.647-438A>G
- NM_001408459.1:c.647-438A>G
- NM_001408460.1:c.647-438A>G
- NM_001408461.1:c.647-438A>G
- NM_001408462.1:c.644-438A>G
- NM_001408463.1:c.644-438A>G
- NM_001408464.1:c.644-438A>G
- NM_001408465.1:c.644-438A>G
- NM_001408466.1:c.647-438A>G
- NM_001408467.1:c.647-438A>G
- NM_001408468.1:c.644-438A>G
- NM_001408469.1:c.647-438A>G
- NM_001408470.1:c.644-438A>G
- NM_001408472.1:c.788-438A>G
- NM_001408473.1:c.785-438A>G
- NM_001408474.1:c.587-438A>G
- NM_001408475.1:c.584-438A>G
- NM_001408476.1:c.587-438A>G
- NM_001408478.1:c.578-438A>G
- NM_001408479.1:c.578-438A>G
- NM_001408480.1:c.578-438A>G
- NM_001408481.1:c.578-438A>G
- NM_001408482.1:c.578-438A>G
- NM_001408483.1:c.578-438A>G
- NM_001408484.1:c.578-438A>G
- NM_001408485.1:c.578-438A>G
- NM_001408489.1:c.578-438A>G
- NM_001408490.1:c.575-438A>G
- NM_001408491.1:c.575-438A>G
- NM_001408492.1:c.578-438A>G
- NM_001408493.1:c.575-438A>G
- NM_001408494.1:c.548-438A>G
- NM_001408495.1:c.545-438A>G
- NM_001408496.1:c.524-438A>G
- NM_001408497.1:c.524-438A>G
- NM_001408498.1:c.524-438A>G
- NM_001408499.1:c.524-438A>G
- NM_001408500.1:c.524-438A>G
- NM_001408501.1:c.524-438A>G
- NM_001408502.1:c.455-438A>G
- NM_001408503.1:c.521-438A>G
- NM_001408504.1:c.521-438A>G
- NM_001408505.1:c.521-438A>G
- NM_001408506.1:c.461-438A>G
- NM_001408507.1:c.461-438A>G
- NM_001408508.1:c.452-438A>G
- NM_001408509.1:c.452-438A>G
- NM_001408510.1:c.407-438A>G
- NM_001408511.1:c.404-438A>G
- NM_001408512.1:c.284-438A>G
- NM_001408513.1:c.578-438A>G
- NM_001408514.1:c.578-438A>G
- NM_007294.4:c.4061A>GMANE SELECT
- NM_007297.4:c.3920A>G
- NM_007298.4:c.788-438A>G
- NM_007299.4:c.788-438A>G
- NM_007300.4:c.4061A>G
- NP_001394500.1:p.Asn1283Ser
- NP_001394510.1:p.Asn1354Ser
- NP_001394511.1:p.Asn1354Ser
- NP_001394512.1:p.Asn1354Ser
- NP_001394514.1:p.Asn1354Ser
- NP_001394516.1:p.Asn1353Ser
- NP_001394519.1:p.Asn1353Ser
- NP_001394520.1:p.Asn1353Ser
- NP_001394522.1:p.Asn1354Ser
- NP_001394523.1:p.Asn1354Ser
- NP_001394525.1:p.Asn1354Ser
- NP_001394526.1:p.Asn1354Ser
- NP_001394527.1:p.Asn1354Ser
- NP_001394531.1:p.Asn1354Ser
- NP_001394532.1:p.Asn1354Ser
- NP_001394534.1:p.Asn1354Ser
- NP_001394539.1:p.Asn1353Ser
- NP_001394540.1:p.Asn1353Ser
- NP_001394541.1:p.Asn1353Ser
- NP_001394542.1:p.Asn1353Ser
- NP_001394543.1:p.Asn1353Ser
- NP_001394544.1:p.Asn1353Ser
- NP_001394545.1:p.Asn1354Ser
- NP_001394546.1:p.Asn1354Ser
- NP_001394547.1:p.Asn1354Ser
- NP_001394548.1:p.Asn1354Ser
- NP_001394549.1:p.Asn1354Ser
- NP_001394550.1:p.Asn1354Ser
- NP_001394551.1:p.Asn1354Ser
- NP_001394552.1:p.Asn1354Ser
- NP_001394553.1:p.Asn1354Ser
- NP_001394554.1:p.Asn1354Ser
- NP_001394555.1:p.Asn1354Ser
- NP_001394556.1:p.Asn1353Ser
- NP_001394557.1:p.Asn1353Ser
- NP_001394558.1:p.Asn1353Ser
- NP_001394559.1:p.Asn1353Ser
- NP_001394560.1:p.Asn1353Ser
- NP_001394561.1:p.Asn1353Ser
- NP_001394562.1:p.Asn1353Ser
- NP_001394563.1:p.Asn1353Ser
- NP_001394564.1:p.Asn1353Ser
- NP_001394565.1:p.Asn1353Ser
- NP_001394566.1:p.Asn1353Ser
- NP_001394567.1:p.Asn1353Ser
- NP_001394568.1:p.Asn1354Ser
- NP_001394569.1:p.Asn1354Ser
- NP_001394570.1:p.Asn1354Ser
- NP_001394571.1:p.Asn1354Ser
- NP_001394573.1:p.Asn1353Ser
- NP_001394574.1:p.Asn1353Ser
- NP_001394575.1:p.Asn1351Ser
- NP_001394576.1:p.Asn1351Ser
- NP_001394577.1:p.Asn1313Ser
- NP_001394578.1:p.Asn1312Ser
- NP_001394581.1:p.Asn1354Ser
- NP_001394582.1:p.Asn1328Ser
- NP_001394583.1:p.Asn1328Ser
- NP_001394584.1:p.Asn1328Ser
- NP_001394585.1:p.Asn1328Ser
- NP_001394586.1:p.Asn1328Ser
- NP_001394587.1:p.Asn1328Ser
- NP_001394588.1:p.Asn1327Ser
- NP_001394589.1:p.Asn1327Ser
- NP_001394590.1:p.Asn1327Ser
- NP_001394591.1:p.Asn1327Ser
- NP_001394592.1:p.Asn1328Ser
- NP_001394593.1:p.Asn1313Ser
- NP_001394594.1:p.Asn1313Ser
- NP_001394595.1:p.Asn1313Ser
- NP_001394596.1:p.Asn1313Ser
- NP_001394597.1:p.Asn1313Ser
- NP_001394598.1:p.Asn1313Ser
- NP_001394599.1:p.Asn1312Ser
- NP_001394600.1:p.Asn1312Ser
- NP_001394601.1:p.Asn1312Ser
- NP_001394602.1:p.Asn1312Ser
- NP_001394603.1:p.Asn1313Ser
- NP_001394604.1:p.Asn1313Ser
- NP_001394605.1:p.Asn1313Ser
- NP_001394606.1:p.Asn1313Ser
- NP_001394607.1:p.Asn1313Ser
- NP_001394608.1:p.Asn1313Ser
- NP_001394609.1:p.Asn1313Ser
- NP_001394610.1:p.Asn1313Ser
- NP_001394611.1:p.Asn1313Ser
- NP_001394612.1:p.Asn1313Ser
- NP_001394613.1:p.Asn1354Ser
- NP_001394614.1:p.Asn1312Ser
- NP_001394615.1:p.Asn1312Ser
- NP_001394616.1:p.Asn1312Ser
- NP_001394617.1:p.Asn1312Ser
- NP_001394618.1:p.Asn1312Ser
- NP_001394619.1:p.Asn1312Ser
- NP_001394620.1:p.Asn1312Ser
- NP_001394621.1:p.Asn1307Ser
- NP_001394623.1:p.Asn1307Ser
- NP_001394624.1:p.Asn1307Ser
- NP_001394625.1:p.Asn1307Ser
- NP_001394626.1:p.Asn1307Ser
- NP_001394627.1:p.Asn1307Ser
- NP_001394653.1:p.Asn1307Ser
- NP_001394654.1:p.Asn1307Ser
- NP_001394655.1:p.Asn1307Ser
- NP_001394656.1:p.Asn1307Ser
- NP_001394657.1:p.Asn1307Ser
- NP_001394658.1:p.Asn1307Ser
- NP_001394659.1:p.Asn1307Ser
- NP_001394660.1:p.Asn1307Ser
- NP_001394661.1:p.Asn1307Ser
- NP_001394662.1:p.Asn1307Ser
- NP_001394663.1:p.Asn1307Ser
- NP_001394664.1:p.Asn1307Ser
- NP_001394665.1:p.Asn1307Ser
- NP_001394666.1:p.Asn1307Ser
- NP_001394667.1:p.Asn1307Ser
- NP_001394668.1:p.Asn1307Ser
- NP_001394669.1:p.Asn1306Ser
- NP_001394670.1:p.Asn1306Ser
- NP_001394671.1:p.Asn1306Ser
- NP_001394672.1:p.Asn1306Ser
- NP_001394673.1:p.Asn1306Ser
- NP_001394674.1:p.Asn1306Ser
- NP_001394675.1:p.Asn1306Ser
- NP_001394676.1:p.Asn1306Ser
- NP_001394677.1:p.Asn1306Ser
- NP_001394678.1:p.Asn1306Ser
- NP_001394679.1:p.Asn1307Ser
- NP_001394680.1:p.Asn1307Ser
- NP_001394681.1:p.Asn1307Ser
- NP_001394767.1:p.Asn1306Ser
- NP_001394768.1:p.Asn1306Ser
- NP_001394770.1:p.Asn1306Ser
- NP_001394771.1:p.Asn1306Ser
- NP_001394772.1:p.Asn1306Ser
- NP_001394773.1:p.Asn1306Ser
- NP_001394774.1:p.Asn1306Ser
- NP_001394775.1:p.Asn1306Ser
- NP_001394776.1:p.Asn1306Ser
- NP_001394777.1:p.Asn1306Ser
- NP_001394778.1:p.Asn1306Ser
- NP_001394779.1:p.Asn1307Ser
- NP_001394780.1:p.Asn1307Ser
- NP_001394781.1:p.Asn1307Ser
- NP_001394782.1:p.Asn1283Ser
- NP_001394783.1:p.Asn1354Ser
- NP_001394787.1:p.Asn1354Ser
- NP_001394788.1:p.Asn1354Ser
- NP_001394789.1:p.Asn1353Ser
- NP_001394790.1:p.Asn1353Ser
- NP_001394791.1:p.Asn1287Ser
- NP_001394792.1:p.Asn1313Ser
- NP_001394803.1:p.Asn1286Ser
- NP_001394804.1:p.Asn1286Ser
- NP_001394808.1:p.Asn1284Ser
- NP_001394810.1:p.Asn1284Ser
- NP_001394811.1:p.Asn1284Ser
- NP_001394813.1:p.Asn1284Ser
- NP_001394814.1:p.Asn1284Ser
- NP_001394815.1:p.Asn1284Ser
- NP_001394816.1:p.Asn1284Ser
- NP_001394818.1:p.Asn1284Ser
- NP_001394823.1:p.Asn1283Ser
- NP_001394824.1:p.Asn1283Ser
- NP_001394825.1:p.Asn1283Ser
- NP_001394826.1:p.Asn1283Ser
- NP_001394827.1:p.Asn1283Ser
- NP_001394828.1:p.Asn1283Ser
- NP_001394829.1:p.Asn1284Ser
- NP_001394831.1:p.Asn1284Ser
- NP_001394833.1:p.Asn1284Ser
- NP_001394835.1:p.Asn1284Ser
- NP_001394836.1:p.Asn1284Ser
- NP_001394837.1:p.Asn1284Ser
- NP_001394838.1:p.Asn1284Ser
- NP_001394839.1:p.Asn1284Ser
- NP_001394844.1:p.Asn1283Ser
- NP_001394845.1:p.Asn1283Ser
- NP_001394846.1:p.Asn1283Ser
- NP_001394847.1:p.Asn1283Ser
- NP_001394848.1:p.Asn1313Ser
- NP_001394849.1:p.Asn1266Ser
- NP_001394850.1:p.Asn1266Ser
- NP_001394851.1:p.Asn1266Ser
- NP_001394852.1:p.Asn1266Ser
- NP_001394853.1:p.Asn1266Ser
- NP_001394854.1:p.Asn1266Ser
- NP_001394855.1:p.Asn1266Ser
- NP_001394856.1:p.Asn1266Ser
- NP_001394857.1:p.Asn1266Ser
- NP_001394858.1:p.Asn1266Ser
- NP_001394859.1:p.Asn1265Ser
- NP_001394860.1:p.Asn1265Ser
- NP_001394861.1:p.Asn1265Ser
- NP_001394862.1:p.Asn1266Ser
- NP_001394863.1:p.Asn1265Ser
- NP_001394864.1:p.Asn1266Ser
- NP_001394865.1:p.Asn1265Ser
- NP_001394866.1:p.Asn1313Ser
- NP_001394867.1:p.Asn1313Ser
- NP_001394868.1:p.Asn1313Ser
- NP_001394869.1:p.Asn1312Ser
- NP_001394870.1:p.Asn1312Ser
- NP_001394871.1:p.Asn1307Ser
- NP_001394872.1:p.Asn1306Ser
- NP_001394873.1:p.Asn1307Ser
- NP_001394874.1:p.Asn1307Ser
- NP_001394875.1:p.Asn1243Ser
- NP_001394876.1:p.Asn1243Ser
- NP_001394877.1:p.Asn1243Ser
- NP_001394878.1:p.Asn1243Ser
- NP_001394879.1:p.Asn1243Ser
- NP_001394880.1:p.Asn1243Ser
- NP_001394881.1:p.Asn1243Ser
- NP_001394882.1:p.Asn1243Ser
- NP_001394883.1:p.Asn1242Ser
- NP_001394884.1:p.Asn1242Ser
- NP_001394885.1:p.Asn1242Ser
- NP_001394886.1:p.Asn1243Ser
- NP_001394887.1:p.Asn1242Ser
- NP_001394888.1:p.Asn1227Ser
- NP_001394889.1:p.Asn1227Ser
- NP_001394891.1:p.Asn1226Ser
- NP_001394892.1:p.Asn1227Ser
- NP_001394893.1:p.Asn1306Ser
- NP_001394894.1:p.Asn1186Ser
- NP_001394895.1:p.Asn1058Ser
- NP_001394896.1:p.Asn1058Ser
- NP_001394897.1:p.Asn486Ser
- NP_001394898.1:p.Asn486Ser
- NP_009225.1:p.Asn1354Ser
- NP_009225.1:p.Asn1354Ser
- NP_009228.2:p.Asn1307Ser
- NP_009231.2:p.Asn1354Ser
- LRG_292t1:c.4061A>G
- LRG_292:g.126514A>G
- LRG_292p1:p.Asn1354Ser
- NC_000017.10:g.41243487T>C
- NM_007294.3:c.4061A>G
- NR_027676.1:n.4197A>G
This HGVS expression did not pass validation- Protein change:
- N1058S
- Links:
- dbSNP: rs767246037
- NCBI 1000 Genomes Browser:
- rs767246037
- Molecular consequence:
- NM_001407970.1:c.788-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407971.1:c.788-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407972.1:c.785-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407973.1:c.788-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407974.1:c.788-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407975.1:c.788-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407976.1:c.788-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407977.1:c.788-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407978.1:c.788-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407979.1:c.788-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407980.1:c.788-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407981.1:c.788-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407982.1:c.788-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407983.1:c.788-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407984.1:c.785-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407985.1:c.785-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407986.1:c.785-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407990.1:c.788-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407991.1:c.785-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407992.1:c.785-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407993.1:c.788-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408392.1:c.785-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408396.1:c.785-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408397.1:c.785-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408398.1:c.785-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408399.1:c.785-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408400.1:c.785-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408401.1:c.785-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408402.1:c.785-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408403.1:c.788-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408404.1:c.788-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408406.1:c.791-447A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408407.1:c.785-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408408.1:c.779-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408409.1:c.710-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408410.1:c.647-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408411.1:c.710-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408412.1:c.710-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408413.1:c.707-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408414.1:c.710-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408415.1:c.710-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408416.1:c.707-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408418.1:c.671-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408419.1:c.671-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408420.1:c.671-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408421.1:c.668-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408422.1:c.671-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408423.1:c.671-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408424.1:c.668-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408425.1:c.665-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408426.1:c.665-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408427.1:c.665-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408428.1:c.665-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408429.1:c.665-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408430.1:c.665-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408431.1:c.668-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408432.1:c.662-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408433.1:c.662-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408434.1:c.662-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408435.1:c.662-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408436.1:c.665-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408437.1:c.665-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408438.1:c.665-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408439.1:c.665-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408440.1:c.665-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408441.1:c.665-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408442.1:c.665-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408443.1:c.665-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408444.1:c.665-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408445.1:c.662-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408446.1:c.662-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408447.1:c.662-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408448.1:c.662-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408450.1:c.662-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408451.1:c.653-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408452.1:c.647-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408453.1:c.647-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408454.1:c.647-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408455.1:c.647-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408456.1:c.647-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408457.1:c.647-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408458.1:c.647-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408459.1:c.647-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408460.1:c.647-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408461.1:c.647-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408462.1:c.644-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408463.1:c.644-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408464.1:c.644-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408465.1:c.644-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408466.1:c.647-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408467.1:c.647-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408468.1:c.644-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408469.1:c.647-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408470.1:c.644-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408472.1:c.788-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408473.1:c.785-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408474.1:c.587-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408475.1:c.584-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408476.1:c.587-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408478.1:c.578-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408479.1:c.578-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408480.1:c.578-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408481.1:c.578-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408482.1:c.578-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408483.1:c.578-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408484.1:c.578-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408485.1:c.578-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408489.1:c.578-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408490.1:c.575-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408491.1:c.575-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408492.1:c.578-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408493.1:c.575-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408494.1:c.548-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408495.1:c.545-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408496.1:c.524-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408497.1:c.524-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408498.1:c.524-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408499.1:c.524-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408500.1:c.524-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408501.1:c.524-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408502.1:c.455-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408503.1:c.521-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408504.1:c.521-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408505.1:c.521-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408506.1:c.461-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408507.1:c.461-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408508.1:c.452-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408509.1:c.452-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408510.1:c.407-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408511.1:c.404-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408512.1:c.284-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408513.1:c.578-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408514.1:c.578-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_007298.4:c.788-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_007299.4:c.788-438A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407571.1:c.3848A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407581.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407582.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407583.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407585.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407587.1:c.4058A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407590.1:c.4058A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407591.1:c.4058A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407593.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407594.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407596.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407597.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407598.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407602.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407603.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407605.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407610.1:c.4058A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407611.1:c.4058A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407612.1:c.4058A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407613.1:c.4058A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407614.1:c.4058A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407615.1:c.4058A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407616.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407617.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407618.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407619.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407620.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407621.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407622.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407623.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407624.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407625.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407626.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407627.1:c.4058A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407628.1:c.4058A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407629.1:c.4058A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407630.1:c.4058A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407631.1:c.4058A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407632.1:c.4058A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407633.1:c.4058A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407634.1:c.4058A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407635.1:c.4058A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407636.1:c.4058A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407637.1:c.4058A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407638.1:c.4058A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407639.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407640.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407641.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407642.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407644.1:c.4058A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407645.1:c.4058A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407646.1:c.4052A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407647.1:c.4052A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407648.1:c.3938A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407649.1:c.3935A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407652.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407653.1:c.3983A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407654.1:c.3983A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407655.1:c.3983A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407656.1:c.3983A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407657.1:c.3983A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407658.1:c.3983A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407659.1:c.3980A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407660.1:c.3980A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407661.1:c.3980A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407662.1:c.3980A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407663.1:c.3983A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407664.1:c.3938A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407665.1:c.3938A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407666.1:c.3938A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407667.1:c.3938A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407668.1:c.3938A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407669.1:c.3938A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407670.1:c.3935A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407671.1:c.3935A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407672.1:c.3935A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407673.1:c.3935A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407674.1:c.3938A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407675.1:c.3938A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407676.1:c.3938A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407677.1:c.3938A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407678.1:c.3938A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407679.1:c.3938A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407680.1:c.3938A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407681.1:c.3938A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407682.1:c.3938A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407683.1:c.3938A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407684.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407685.1:c.3935A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407686.1:c.3935A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407687.1:c.3935A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407688.1:c.3935A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407689.1:c.3935A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407690.1:c.3935A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407691.1:c.3935A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407692.1:c.3920A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407694.1:c.3920A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407695.1:c.3920A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407696.1:c.3920A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407697.1:c.3920A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407698.1:c.3920A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407724.1:c.3920A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407725.1:c.3920A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407726.1:c.3920A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407727.1:c.3920A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407728.1:c.3920A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407729.1:c.3920A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407730.1:c.3920A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407731.1:c.3920A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407732.1:c.3920A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407733.1:c.3920A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407734.1:c.3920A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407735.1:c.3920A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407736.1:c.3920A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407737.1:c.3920A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407738.1:c.3920A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407739.1:c.3920A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407740.1:c.3917A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407741.1:c.3917A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407742.1:c.3917A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407743.1:c.3917A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407744.1:c.3917A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407745.1:c.3917A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407746.1:c.3917A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407747.1:c.3917A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407748.1:c.3917A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407749.1:c.3917A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407750.1:c.3920A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407751.1:c.3920A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407752.1:c.3920A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407838.1:c.3917A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407839.1:c.3917A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407841.1:c.3917A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407842.1:c.3917A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407843.1:c.3917A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407844.1:c.3917A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407845.1:c.3917A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407846.1:c.3917A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407847.1:c.3917A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407848.1:c.3917A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407849.1:c.3917A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407850.1:c.3920A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407851.1:c.3920A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407852.1:c.3920A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407853.1:c.3848A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407854.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407858.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407859.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407860.1:c.4058A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407861.1:c.4058A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407862.1:c.3860A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407863.1:c.3938A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407874.1:c.3857A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407875.1:c.3857A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407879.1:c.3851A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407881.1:c.3851A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407882.1:c.3851A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407884.1:c.3851A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407885.1:c.3851A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407886.1:c.3851A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407887.1:c.3851A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407889.1:c.3851A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407894.1:c.3848A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407895.1:c.3848A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407896.1:c.3848A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407897.1:c.3848A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407898.1:c.3848A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407899.1:c.3848A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407900.1:c.3851A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407902.1:c.3851A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407904.1:c.3851A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407906.1:c.3851A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407907.1:c.3851A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407908.1:c.3851A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407909.1:c.3851A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407910.1:c.3851A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407915.1:c.3848A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407916.1:c.3848A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407917.1:c.3848A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407918.1:c.3848A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407919.1:c.3938A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407920.1:c.3797A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407921.1:c.3797A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407922.1:c.3797A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407923.1:c.3797A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407924.1:c.3797A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407925.1:c.3797A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407926.1:c.3797A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407927.1:c.3797A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407928.1:c.3797A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407929.1:c.3797A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407930.1:c.3794A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407931.1:c.3794A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407932.1:c.3794A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407933.1:c.3797A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407934.1:c.3794A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407935.1:c.3797A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407936.1:c.3794A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407937.1:c.3938A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407938.1:c.3938A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407939.1:c.3938A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407940.1:c.3935A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407941.1:c.3935A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407942.1:c.3920A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407943.1:c.3917A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407944.1:c.3920A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407945.1:c.3920A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407946.1:c.3728A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407947.1:c.3728A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407948.1:c.3728A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407949.1:c.3728A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407950.1:c.3728A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407951.1:c.3728A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407952.1:c.3728A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407953.1:c.3728A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407954.1:c.3725A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407955.1:c.3725A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407956.1:c.3725A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407957.1:c.3728A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407958.1:c.3725A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407959.1:c.3680A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407960.1:c.3680A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407962.1:c.3677A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407963.1:c.3680A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407964.1:c.3917A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407965.1:c.3557A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407966.1:c.3173A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407967.1:c.3173A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407968.1:c.1457A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407969.1:c.1457A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007294.4:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007297.4:c.3920A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007300.4:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000699104 | Women's Health and Genetics/Laboratory Corporation of America, LabCorp | criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015) | Uncertain significance (Jul 22, 2016) | germline | clinical testing | LabCorp Variant Classification Summary - May 2015.docx |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | germline | unknown | not provided | not provided | not provided | not provided | not provided | clinical testing |
Details of each submission
From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000699104.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
Description
Variant summary: The BRCA1 c.4061A>G (p.Asn1354Ser) variant causes a missense change involving a non-conserved nucleotide with 4/4 in silico tools (SNPs&GO not captured due to low reliability index) predicting a benign outcome, although these predictions have yet to be functionally assessed. The variant of interest was not observed in controls (ExAC, 1000 Gs or ESP), nor has it been, to our knowledge, reported in affected individuals via publications and/or reputable databases/clinical laboratories. Therefore, until additional information becomes available, the variant of interest has been classified as a "Variant of Uncertain Significance (VUS)."
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
Last Updated: May 7, 2024