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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000699104Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)
Uncertain significance
(Jul 22, 2016)
germlineclinical testing

LabCorp Variant Classification Summary - May 2015.docx

Citation Link

Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000699104.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot 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)."

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

Last Updated: May 7, 2024