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NM_007294.4(BRCA1):c.3857G>C (p.Ser1286Thr) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 26, 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:
RCV000412224.3

Allele description [Variation Report for NM_007294.4(BRCA1):c.3857G>C (p.Ser1286Thr)]

NM_007294.4(BRCA1):c.3857G>C (p.Ser1286Thr)

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.3857G>C (p.Ser1286Thr)
HGVS:
  • NC_000017.11:g.43091674C>G
  • NG_005905.2:g.126310G>C
  • NG_087068.1:g.656C>G
  • NM_001407571.1:c.3644G>C
  • NM_001407581.1:c.3857G>C
  • NM_001407582.1:c.3857G>C
  • NM_001407583.1:c.3857G>C
  • NM_001407585.1:c.3857G>C
  • NM_001407587.1:c.3854G>C
  • NM_001407590.1:c.3854G>C
  • NM_001407591.1:c.3854G>C
  • NM_001407593.1:c.3857G>C
  • NM_001407594.1:c.3857G>C
  • NM_001407596.1:c.3857G>C
  • NM_001407597.1:c.3857G>C
  • NM_001407598.1:c.3857G>C
  • NM_001407602.1:c.3857G>C
  • NM_001407603.1:c.3857G>C
  • NM_001407605.1:c.3857G>C
  • NM_001407610.1:c.3854G>C
  • NM_001407611.1:c.3854G>C
  • NM_001407612.1:c.3854G>C
  • NM_001407613.1:c.3854G>C
  • NM_001407614.1:c.3854G>C
  • NM_001407615.1:c.3854G>C
  • NM_001407616.1:c.3857G>C
  • NM_001407617.1:c.3857G>C
  • NM_001407618.1:c.3857G>C
  • NM_001407619.1:c.3857G>C
  • NM_001407620.1:c.3857G>C
  • NM_001407621.1:c.3857G>C
  • NM_001407622.1:c.3857G>C
  • NM_001407623.1:c.3857G>C
  • NM_001407624.1:c.3857G>C
  • NM_001407625.1:c.3857G>C
  • NM_001407626.1:c.3857G>C
  • NM_001407627.1:c.3854G>C
  • NM_001407628.1:c.3854G>C
  • NM_001407629.1:c.3854G>C
  • NM_001407630.1:c.3854G>C
  • NM_001407631.1:c.3854G>C
  • NM_001407632.1:c.3854G>C
  • NM_001407633.1:c.3854G>C
  • NM_001407634.1:c.3854G>C
  • NM_001407635.1:c.3854G>C
  • NM_001407636.1:c.3854G>C
  • NM_001407637.1:c.3854G>C
  • NM_001407638.1:c.3854G>C
  • NM_001407639.1:c.3857G>C
  • NM_001407640.1:c.3857G>C
  • NM_001407641.1:c.3857G>C
  • NM_001407642.1:c.3857G>C
  • NM_001407644.1:c.3854G>C
  • NM_001407645.1:c.3854G>C
  • NM_001407646.1:c.3848G>C
  • NM_001407647.1:c.3848G>C
  • NM_001407648.1:c.3734G>C
  • NM_001407649.1:c.3731G>C
  • NM_001407652.1:c.3857G>C
  • NM_001407653.1:c.3779G>C
  • NM_001407654.1:c.3779G>C
  • NM_001407655.1:c.3779G>C
  • NM_001407656.1:c.3779G>C
  • NM_001407657.1:c.3779G>C
  • NM_001407658.1:c.3779G>C
  • NM_001407659.1:c.3776G>C
  • NM_001407660.1:c.3776G>C
  • NM_001407661.1:c.3776G>C
  • NM_001407662.1:c.3776G>C
  • NM_001407663.1:c.3779G>C
  • NM_001407664.1:c.3734G>C
  • NM_001407665.1:c.3734G>C
  • NM_001407666.1:c.3734G>C
  • NM_001407667.1:c.3734G>C
  • NM_001407668.1:c.3734G>C
  • NM_001407669.1:c.3734G>C
  • NM_001407670.1:c.3731G>C
  • NM_001407671.1:c.3731G>C
  • NM_001407672.1:c.3731G>C
  • NM_001407673.1:c.3731G>C
  • NM_001407674.1:c.3734G>C
  • NM_001407675.1:c.3734G>C
  • NM_001407676.1:c.3734G>C
  • NM_001407677.1:c.3734G>C
  • NM_001407678.1:c.3734G>C
  • NM_001407679.1:c.3734G>C
  • NM_001407680.1:c.3734G>C
  • NM_001407681.1:c.3734G>C
  • NM_001407682.1:c.3734G>C
  • NM_001407683.1:c.3734G>C
  • NM_001407684.1:c.3857G>C
  • NM_001407685.1:c.3731G>C
  • NM_001407686.1:c.3731G>C
  • NM_001407687.1:c.3731G>C
  • NM_001407688.1:c.3731G>C
  • NM_001407689.1:c.3731G>C
  • NM_001407690.1:c.3731G>C
  • NM_001407691.1:c.3731G>C
  • NM_001407692.1:c.3716G>C
  • NM_001407694.1:c.3716G>C
  • NM_001407695.1:c.3716G>C
  • NM_001407696.1:c.3716G>C
  • NM_001407697.1:c.3716G>C
  • NM_001407698.1:c.3716G>C
  • NM_001407724.1:c.3716G>C
  • NM_001407725.1:c.3716G>C
  • NM_001407726.1:c.3716G>C
  • NM_001407727.1:c.3716G>C
  • NM_001407728.1:c.3716G>C
  • NM_001407729.1:c.3716G>C
  • NM_001407730.1:c.3716G>C
  • NM_001407731.1:c.3716G>C
  • NM_001407732.1:c.3716G>C
  • NM_001407733.1:c.3716G>C
  • NM_001407734.1:c.3716G>C
  • NM_001407735.1:c.3716G>C
  • NM_001407736.1:c.3716G>C
  • NM_001407737.1:c.3716G>C
  • NM_001407738.1:c.3716G>C
  • NM_001407739.1:c.3716G>C
  • NM_001407740.1:c.3713G>C
  • NM_001407741.1:c.3713G>C
  • NM_001407742.1:c.3713G>C
  • NM_001407743.1:c.3713G>C
  • NM_001407744.1:c.3713G>C
  • NM_001407745.1:c.3713G>C
  • NM_001407746.1:c.3713G>C
  • NM_001407747.1:c.3713G>C
  • NM_001407748.1:c.3713G>C
  • NM_001407749.1:c.3713G>C
  • NM_001407750.1:c.3716G>C
  • NM_001407751.1:c.3716G>C
  • NM_001407752.1:c.3716G>C
  • NM_001407838.1:c.3713G>C
  • NM_001407839.1:c.3713G>C
  • NM_001407841.1:c.3713G>C
  • NM_001407842.1:c.3713G>C
  • NM_001407843.1:c.3713G>C
  • NM_001407844.1:c.3713G>C
  • NM_001407845.1:c.3713G>C
  • NM_001407846.1:c.3713G>C
  • NM_001407847.1:c.3713G>C
  • NM_001407848.1:c.3713G>C
  • NM_001407849.1:c.3713G>C
  • NM_001407850.1:c.3716G>C
  • NM_001407851.1:c.3716G>C
  • NM_001407852.1:c.3716G>C
  • NM_001407853.1:c.3644G>C
  • NM_001407854.1:c.3857G>C
  • NM_001407858.1:c.3857G>C
  • NM_001407859.1:c.3857G>C
  • NM_001407860.1:c.3854G>C
  • NM_001407861.1:c.3854G>C
  • NM_001407862.1:c.3656G>C
  • NM_001407863.1:c.3734G>C
  • NM_001407874.1:c.3653G>C
  • NM_001407875.1:c.3653G>C
  • NM_001407879.1:c.3647G>C
  • NM_001407881.1:c.3647G>C
  • NM_001407882.1:c.3647G>C
  • NM_001407884.1:c.3647G>C
  • NM_001407885.1:c.3647G>C
  • NM_001407886.1:c.3647G>C
  • NM_001407887.1:c.3647G>C
  • NM_001407889.1:c.3647G>C
  • NM_001407894.1:c.3644G>C
  • NM_001407895.1:c.3644G>C
  • NM_001407896.1:c.3644G>C
  • NM_001407897.1:c.3644G>C
  • NM_001407898.1:c.3644G>C
  • NM_001407899.1:c.3644G>C
  • NM_001407900.1:c.3647G>C
  • NM_001407902.1:c.3647G>C
  • NM_001407904.1:c.3647G>C
  • NM_001407906.1:c.3647G>C
  • NM_001407907.1:c.3647G>C
  • NM_001407908.1:c.3647G>C
  • NM_001407909.1:c.3647G>C
  • NM_001407910.1:c.3647G>C
  • NM_001407915.1:c.3644G>C
  • NM_001407916.1:c.3644G>C
  • NM_001407917.1:c.3644G>C
  • NM_001407918.1:c.3644G>C
  • NM_001407919.1:c.3734G>C
  • NM_001407920.1:c.3593G>C
  • NM_001407921.1:c.3593G>C
  • NM_001407922.1:c.3593G>C
  • NM_001407923.1:c.3593G>C
  • NM_001407924.1:c.3593G>C
  • NM_001407925.1:c.3593G>C
  • NM_001407926.1:c.3593G>C
  • NM_001407927.1:c.3593G>C
  • NM_001407928.1:c.3593G>C
  • NM_001407929.1:c.3593G>C
  • NM_001407930.1:c.3590G>C
  • NM_001407931.1:c.3590G>C
  • NM_001407932.1:c.3590G>C
  • NM_001407933.1:c.3593G>C
  • NM_001407934.1:c.3590G>C
  • NM_001407935.1:c.3593G>C
  • NM_001407936.1:c.3590G>C
  • NM_001407937.1:c.3734G>C
  • NM_001407938.1:c.3734G>C
  • NM_001407939.1:c.3734G>C
  • NM_001407940.1:c.3731G>C
  • NM_001407941.1:c.3731G>C
  • NM_001407942.1:c.3716G>C
  • NM_001407943.1:c.3713G>C
  • NM_001407944.1:c.3716G>C
  • NM_001407945.1:c.3716G>C
  • NM_001407946.1:c.3524G>C
  • NM_001407947.1:c.3524G>C
  • NM_001407948.1:c.3524G>C
  • NM_001407949.1:c.3524G>C
  • NM_001407950.1:c.3524G>C
  • NM_001407951.1:c.3524G>C
  • NM_001407952.1:c.3524G>C
  • NM_001407953.1:c.3524G>C
  • NM_001407954.1:c.3521G>C
  • NM_001407955.1:c.3521G>C
  • NM_001407956.1:c.3521G>C
  • NM_001407957.1:c.3524G>C
  • NM_001407958.1:c.3521G>C
  • NM_001407959.1:c.3476G>C
  • NM_001407960.1:c.3476G>C
  • NM_001407962.1:c.3473G>C
  • NM_001407963.1:c.3476G>C
  • NM_001407964.1:c.3713G>C
  • NM_001407965.1:c.3353G>C
  • NM_001407966.1:c.2969G>C
  • NM_001407967.1:c.2969G>C
  • NM_001407968.1:c.1253G>C
  • NM_001407969.1:c.1253G>C
  • NM_001407970.1:c.788-642G>C
  • NM_001407971.1:c.788-642G>C
  • NM_001407972.1:c.785-642G>C
  • NM_001407973.1:c.788-642G>C
  • NM_001407974.1:c.788-642G>C
  • NM_001407975.1:c.788-642G>C
  • NM_001407976.1:c.788-642G>C
  • NM_001407977.1:c.788-642G>C
  • NM_001407978.1:c.788-642G>C
  • NM_001407979.1:c.788-642G>C
  • NM_001407980.1:c.788-642G>C
  • NM_001407981.1:c.788-642G>C
  • NM_001407982.1:c.788-642G>C
  • NM_001407983.1:c.788-642G>C
  • NM_001407984.1:c.785-642G>C
  • NM_001407985.1:c.785-642G>C
  • NM_001407986.1:c.785-642G>C
  • NM_001407990.1:c.788-642G>C
  • NM_001407991.1:c.785-642G>C
  • NM_001407992.1:c.785-642G>C
  • NM_001407993.1:c.788-642G>C
  • NM_001408392.1:c.785-642G>C
  • NM_001408396.1:c.785-642G>C
  • NM_001408397.1:c.785-642G>C
  • NM_001408398.1:c.785-642G>C
  • NM_001408399.1:c.785-642G>C
  • NM_001408400.1:c.785-642G>C
  • NM_001408401.1:c.785-642G>C
  • NM_001408402.1:c.785-642G>C
  • NM_001408403.1:c.788-642G>C
  • NM_001408404.1:c.788-642G>C
  • NM_001408406.1:c.791-651G>C
  • NM_001408407.1:c.785-642G>C
  • NM_001408408.1:c.779-642G>C
  • NM_001408409.1:c.710-642G>C
  • NM_001408410.1:c.647-642G>C
  • NM_001408411.1:c.710-642G>C
  • NM_001408412.1:c.710-642G>C
  • NM_001408413.1:c.707-642G>C
  • NM_001408414.1:c.710-642G>C
  • NM_001408415.1:c.710-642G>C
  • NM_001408416.1:c.707-642G>C
  • NM_001408418.1:c.671-642G>C
  • NM_001408419.1:c.671-642G>C
  • NM_001408420.1:c.671-642G>C
  • NM_001408421.1:c.668-642G>C
  • NM_001408422.1:c.671-642G>C
  • NM_001408423.1:c.671-642G>C
  • NM_001408424.1:c.668-642G>C
  • NM_001408425.1:c.665-642G>C
  • NM_001408426.1:c.665-642G>C
  • NM_001408427.1:c.665-642G>C
  • NM_001408428.1:c.665-642G>C
  • NM_001408429.1:c.665-642G>C
  • NM_001408430.1:c.665-642G>C
  • NM_001408431.1:c.668-642G>C
  • NM_001408432.1:c.662-642G>C
  • NM_001408433.1:c.662-642G>C
  • NM_001408434.1:c.662-642G>C
  • NM_001408435.1:c.662-642G>C
  • NM_001408436.1:c.665-642G>C
  • NM_001408437.1:c.665-642G>C
  • NM_001408438.1:c.665-642G>C
  • NM_001408439.1:c.665-642G>C
  • NM_001408440.1:c.665-642G>C
  • NM_001408441.1:c.665-642G>C
  • NM_001408442.1:c.665-642G>C
  • NM_001408443.1:c.665-642G>C
  • NM_001408444.1:c.665-642G>C
  • NM_001408445.1:c.662-642G>C
  • NM_001408446.1:c.662-642G>C
  • NM_001408447.1:c.662-642G>C
  • NM_001408448.1:c.662-642G>C
  • NM_001408450.1:c.662-642G>C
  • NM_001408451.1:c.653-642G>C
  • NM_001408452.1:c.647-642G>C
  • NM_001408453.1:c.647-642G>C
  • NM_001408454.1:c.647-642G>C
  • NM_001408455.1:c.647-642G>C
  • NM_001408456.1:c.647-642G>C
  • NM_001408457.1:c.647-642G>C
  • NM_001408458.1:c.647-642G>C
  • NM_001408459.1:c.647-642G>C
  • NM_001408460.1:c.647-642G>C
  • NM_001408461.1:c.647-642G>C
  • NM_001408462.1:c.644-642G>C
  • NM_001408463.1:c.644-642G>C
  • NM_001408464.1:c.644-642G>C
  • NM_001408465.1:c.644-642G>C
  • NM_001408466.1:c.647-642G>C
  • NM_001408467.1:c.647-642G>C
  • NM_001408468.1:c.644-642G>C
  • NM_001408469.1:c.647-642G>C
  • NM_001408470.1:c.644-642G>C
  • NM_001408472.1:c.788-642G>C
  • NM_001408473.1:c.785-642G>C
  • NM_001408474.1:c.587-642G>C
  • NM_001408475.1:c.584-642G>C
  • NM_001408476.1:c.587-642G>C
  • NM_001408478.1:c.578-642G>C
  • NM_001408479.1:c.578-642G>C
  • NM_001408480.1:c.578-642G>C
  • NM_001408481.1:c.578-642G>C
  • NM_001408482.1:c.578-642G>C
  • NM_001408483.1:c.578-642G>C
  • NM_001408484.1:c.578-642G>C
  • NM_001408485.1:c.578-642G>C
  • NM_001408489.1:c.578-642G>C
  • NM_001408490.1:c.575-642G>C
  • NM_001408491.1:c.575-642G>C
  • NM_001408492.1:c.578-642G>C
  • NM_001408493.1:c.575-642G>C
  • NM_001408494.1:c.548-642G>C
  • NM_001408495.1:c.545-642G>C
  • NM_001408496.1:c.524-642G>C
  • NM_001408497.1:c.524-642G>C
  • NM_001408498.1:c.524-642G>C
  • NM_001408499.1:c.524-642G>C
  • NM_001408500.1:c.524-642G>C
  • NM_001408501.1:c.524-642G>C
  • NM_001408502.1:c.455-642G>C
  • NM_001408503.1:c.521-642G>C
  • NM_001408504.1:c.521-642G>C
  • NM_001408505.1:c.521-642G>C
  • NM_001408506.1:c.461-642G>C
  • NM_001408507.1:c.461-642G>C
  • NM_001408508.1:c.452-642G>C
  • NM_001408509.1:c.452-642G>C
  • NM_001408510.1:c.407-642G>C
  • NM_001408511.1:c.404-642G>C
  • NM_001408512.1:c.284-642G>C
  • NM_001408513.1:c.578-642G>C
  • NM_001408514.1:c.578-642G>C
  • NM_007294.4:c.3857G>CMANE SELECT
  • NM_007297.4:c.3716G>C
  • NM_007298.4:c.788-642G>C
  • NM_007299.4:c.788-642G>C
  • NM_007300.4:c.3857G>C
  • NP_001394500.1:p.Ser1215Thr
  • NP_001394510.1:p.Ser1286Thr
  • NP_001394511.1:p.Ser1286Thr
  • NP_001394512.1:p.Ser1286Thr
  • NP_001394514.1:p.Ser1286Thr
  • NP_001394516.1:p.Ser1285Thr
  • NP_001394519.1:p.Ser1285Thr
  • NP_001394520.1:p.Ser1285Thr
  • NP_001394522.1:p.Ser1286Thr
  • NP_001394523.1:p.Ser1286Thr
  • NP_001394525.1:p.Ser1286Thr
  • NP_001394526.1:p.Ser1286Thr
  • NP_001394527.1:p.Ser1286Thr
  • NP_001394531.1:p.Ser1286Thr
  • NP_001394532.1:p.Ser1286Thr
  • NP_001394534.1:p.Ser1286Thr
  • NP_001394539.1:p.Ser1285Thr
  • NP_001394540.1:p.Ser1285Thr
  • NP_001394541.1:p.Ser1285Thr
  • NP_001394542.1:p.Ser1285Thr
  • NP_001394543.1:p.Ser1285Thr
  • NP_001394544.1:p.Ser1285Thr
  • NP_001394545.1:p.Ser1286Thr
  • NP_001394546.1:p.Ser1286Thr
  • NP_001394547.1:p.Ser1286Thr
  • NP_001394548.1:p.Ser1286Thr
  • NP_001394549.1:p.Ser1286Thr
  • NP_001394550.1:p.Ser1286Thr
  • NP_001394551.1:p.Ser1286Thr
  • NP_001394552.1:p.Ser1286Thr
  • NP_001394553.1:p.Ser1286Thr
  • NP_001394554.1:p.Ser1286Thr
  • NP_001394555.1:p.Ser1286Thr
  • NP_001394556.1:p.Ser1285Thr
  • NP_001394557.1:p.Ser1285Thr
  • NP_001394558.1:p.Ser1285Thr
  • NP_001394559.1:p.Ser1285Thr
  • NP_001394560.1:p.Ser1285Thr
  • NP_001394561.1:p.Ser1285Thr
  • NP_001394562.1:p.Ser1285Thr
  • NP_001394563.1:p.Ser1285Thr
  • NP_001394564.1:p.Ser1285Thr
  • NP_001394565.1:p.Ser1285Thr
  • NP_001394566.1:p.Ser1285Thr
  • NP_001394567.1:p.Ser1285Thr
  • NP_001394568.1:p.Ser1286Thr
  • NP_001394569.1:p.Ser1286Thr
  • NP_001394570.1:p.Ser1286Thr
  • NP_001394571.1:p.Ser1286Thr
  • NP_001394573.1:p.Ser1285Thr
  • NP_001394574.1:p.Ser1285Thr
  • NP_001394575.1:p.Ser1283Thr
  • NP_001394576.1:p.Ser1283Thr
  • NP_001394577.1:p.Ser1245Thr
  • NP_001394578.1:p.Ser1244Thr
  • NP_001394581.1:p.Ser1286Thr
  • NP_001394582.1:p.Ser1260Thr
  • NP_001394583.1:p.Ser1260Thr
  • NP_001394584.1:p.Ser1260Thr
  • NP_001394585.1:p.Ser1260Thr
  • NP_001394586.1:p.Ser1260Thr
  • NP_001394587.1:p.Ser1260Thr
  • NP_001394588.1:p.Ser1259Thr
  • NP_001394589.1:p.Ser1259Thr
  • NP_001394590.1:p.Ser1259Thr
  • NP_001394591.1:p.Ser1259Thr
  • NP_001394592.1:p.Ser1260Thr
  • NP_001394593.1:p.Ser1245Thr
  • NP_001394594.1:p.Ser1245Thr
  • NP_001394595.1:p.Ser1245Thr
  • NP_001394596.1:p.Ser1245Thr
  • NP_001394597.1:p.Ser1245Thr
  • NP_001394598.1:p.Ser1245Thr
  • NP_001394599.1:p.Ser1244Thr
  • NP_001394600.1:p.Ser1244Thr
  • NP_001394601.1:p.Ser1244Thr
  • NP_001394602.1:p.Ser1244Thr
  • NP_001394603.1:p.Ser1245Thr
  • NP_001394604.1:p.Ser1245Thr
  • NP_001394605.1:p.Ser1245Thr
  • NP_001394606.1:p.Ser1245Thr
  • NP_001394607.1:p.Ser1245Thr
  • NP_001394608.1:p.Ser1245Thr
  • NP_001394609.1:p.Ser1245Thr
  • NP_001394610.1:p.Ser1245Thr
  • NP_001394611.1:p.Ser1245Thr
  • NP_001394612.1:p.Ser1245Thr
  • NP_001394613.1:p.Ser1286Thr
  • NP_001394614.1:p.Ser1244Thr
  • NP_001394615.1:p.Ser1244Thr
  • NP_001394616.1:p.Ser1244Thr
  • NP_001394617.1:p.Ser1244Thr
  • NP_001394618.1:p.Ser1244Thr
  • NP_001394619.1:p.Ser1244Thr
  • NP_001394620.1:p.Ser1244Thr
  • NP_001394621.1:p.Ser1239Thr
  • NP_001394623.1:p.Ser1239Thr
  • NP_001394624.1:p.Ser1239Thr
  • NP_001394625.1:p.Ser1239Thr
  • NP_001394626.1:p.Ser1239Thr
  • NP_001394627.1:p.Ser1239Thr
  • NP_001394653.1:p.Ser1239Thr
  • NP_001394654.1:p.Ser1239Thr
  • NP_001394655.1:p.Ser1239Thr
  • NP_001394656.1:p.Ser1239Thr
  • NP_001394657.1:p.Ser1239Thr
  • NP_001394658.1:p.Ser1239Thr
  • NP_001394659.1:p.Ser1239Thr
  • NP_001394660.1:p.Ser1239Thr
  • NP_001394661.1:p.Ser1239Thr
  • NP_001394662.1:p.Ser1239Thr
  • NP_001394663.1:p.Ser1239Thr
  • NP_001394664.1:p.Ser1239Thr
  • NP_001394665.1:p.Ser1239Thr
  • NP_001394666.1:p.Ser1239Thr
  • NP_001394667.1:p.Ser1239Thr
  • NP_001394668.1:p.Ser1239Thr
  • NP_001394669.1:p.Ser1238Thr
  • NP_001394670.1:p.Ser1238Thr
  • NP_001394671.1:p.Ser1238Thr
  • NP_001394672.1:p.Ser1238Thr
  • NP_001394673.1:p.Ser1238Thr
  • NP_001394674.1:p.Ser1238Thr
  • NP_001394675.1:p.Ser1238Thr
  • NP_001394676.1:p.Ser1238Thr
  • NP_001394677.1:p.Ser1238Thr
  • NP_001394678.1:p.Ser1238Thr
  • NP_001394679.1:p.Ser1239Thr
  • NP_001394680.1:p.Ser1239Thr
  • NP_001394681.1:p.Ser1239Thr
  • NP_001394767.1:p.Ser1238Thr
  • NP_001394768.1:p.Ser1238Thr
  • NP_001394770.1:p.Ser1238Thr
  • NP_001394771.1:p.Ser1238Thr
  • NP_001394772.1:p.Ser1238Thr
  • NP_001394773.1:p.Ser1238Thr
  • NP_001394774.1:p.Ser1238Thr
  • NP_001394775.1:p.Ser1238Thr
  • NP_001394776.1:p.Ser1238Thr
  • NP_001394777.1:p.Ser1238Thr
  • NP_001394778.1:p.Ser1238Thr
  • NP_001394779.1:p.Ser1239Thr
  • NP_001394780.1:p.Ser1239Thr
  • NP_001394781.1:p.Ser1239Thr
  • NP_001394782.1:p.Ser1215Thr
  • NP_001394783.1:p.Ser1286Thr
  • NP_001394787.1:p.Ser1286Thr
  • NP_001394788.1:p.Ser1286Thr
  • NP_001394789.1:p.Ser1285Thr
  • NP_001394790.1:p.Ser1285Thr
  • NP_001394791.1:p.Ser1219Thr
  • NP_001394792.1:p.Ser1245Thr
  • NP_001394803.1:p.Ser1218Thr
  • NP_001394804.1:p.Ser1218Thr
  • NP_001394808.1:p.Ser1216Thr
  • NP_001394810.1:p.Ser1216Thr
  • NP_001394811.1:p.Ser1216Thr
  • NP_001394813.1:p.Ser1216Thr
  • NP_001394814.1:p.Ser1216Thr
  • NP_001394815.1:p.Ser1216Thr
  • NP_001394816.1:p.Ser1216Thr
  • NP_001394818.1:p.Ser1216Thr
  • NP_001394823.1:p.Ser1215Thr
  • NP_001394824.1:p.Ser1215Thr
  • NP_001394825.1:p.Ser1215Thr
  • NP_001394826.1:p.Ser1215Thr
  • NP_001394827.1:p.Ser1215Thr
  • NP_001394828.1:p.Ser1215Thr
  • NP_001394829.1:p.Ser1216Thr
  • NP_001394831.1:p.Ser1216Thr
  • NP_001394833.1:p.Ser1216Thr
  • NP_001394835.1:p.Ser1216Thr
  • NP_001394836.1:p.Ser1216Thr
  • NP_001394837.1:p.Ser1216Thr
  • NP_001394838.1:p.Ser1216Thr
  • NP_001394839.1:p.Ser1216Thr
  • NP_001394844.1:p.Ser1215Thr
  • NP_001394845.1:p.Ser1215Thr
  • NP_001394846.1:p.Ser1215Thr
  • NP_001394847.1:p.Ser1215Thr
  • NP_001394848.1:p.Ser1245Thr
  • NP_001394849.1:p.Ser1198Thr
  • NP_001394850.1:p.Ser1198Thr
  • NP_001394851.1:p.Ser1198Thr
  • NP_001394852.1:p.Ser1198Thr
  • NP_001394853.1:p.Ser1198Thr
  • NP_001394854.1:p.Ser1198Thr
  • NP_001394855.1:p.Ser1198Thr
  • NP_001394856.1:p.Ser1198Thr
  • NP_001394857.1:p.Ser1198Thr
  • NP_001394858.1:p.Ser1198Thr
  • NP_001394859.1:p.Ser1197Thr
  • NP_001394860.1:p.Ser1197Thr
  • NP_001394861.1:p.Ser1197Thr
  • NP_001394862.1:p.Ser1198Thr
  • NP_001394863.1:p.Ser1197Thr
  • NP_001394864.1:p.Ser1198Thr
  • NP_001394865.1:p.Ser1197Thr
  • NP_001394866.1:p.Ser1245Thr
  • NP_001394867.1:p.Ser1245Thr
  • NP_001394868.1:p.Ser1245Thr
  • NP_001394869.1:p.Ser1244Thr
  • NP_001394870.1:p.Ser1244Thr
  • NP_001394871.1:p.Ser1239Thr
  • NP_001394872.1:p.Ser1238Thr
  • NP_001394873.1:p.Ser1239Thr
  • NP_001394874.1:p.Ser1239Thr
  • NP_001394875.1:p.Ser1175Thr
  • NP_001394876.1:p.Ser1175Thr
  • NP_001394877.1:p.Ser1175Thr
  • NP_001394878.1:p.Ser1175Thr
  • NP_001394879.1:p.Ser1175Thr
  • NP_001394880.1:p.Ser1175Thr
  • NP_001394881.1:p.Ser1175Thr
  • NP_001394882.1:p.Ser1175Thr
  • NP_001394883.1:p.Ser1174Thr
  • NP_001394884.1:p.Ser1174Thr
  • NP_001394885.1:p.Ser1174Thr
  • NP_001394886.1:p.Ser1175Thr
  • NP_001394887.1:p.Ser1174Thr
  • NP_001394888.1:p.Ser1159Thr
  • NP_001394889.1:p.Ser1159Thr
  • NP_001394891.1:p.Ser1158Thr
  • NP_001394892.1:p.Ser1159Thr
  • NP_001394893.1:p.Ser1238Thr
  • NP_001394894.1:p.Ser1118Thr
  • NP_001394895.1:p.Ser990Thr
  • NP_001394896.1:p.Ser990Thr
  • NP_001394897.1:p.Ser418Thr
  • NP_001394898.1:p.Ser418Thr
  • NP_009225.1:p.Ser1286Thr
  • NP_009225.1:p.Ser1286Thr
  • NP_009228.2:p.Ser1239Thr
  • NP_009231.2:p.Ser1286Thr
  • LRG_292t1:c.3857G>C
  • LRG_292:g.126310G>C
  • LRG_292p1:p.Ser1286Thr
  • NC_000017.10:g.41243691C>G
  • NM_007294.3:c.3857G>C
  • NR_027676.1:n.3993G>C
  • p.S1286T
Protein change:
S1118T
Links:
dbSNP: rs142383077
NCBI 1000 Genomes Browser:
rs142383077
Molecular consequence:
  • NM_001407970.1:c.788-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.788-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.785-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.788-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.788-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.788-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.788-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.788-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.788-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.788-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.788-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.788-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.788-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.788-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.785-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.785-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.785-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.788-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.785-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.785-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.788-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.785-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.785-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.785-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.785-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.785-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.785-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.785-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.785-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.788-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.788-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.791-651G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.785-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.779-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.710-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.647-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.710-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.710-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.707-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.710-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.710-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.707-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.665-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.665-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.665-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.665-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.665-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.665-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.662-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.662-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.662-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.662-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.665-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.665-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.665-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.665-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.665-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.665-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.665-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.665-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.665-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.662-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.662-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.662-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.662-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.662-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.653-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.647-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.647-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.647-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.647-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.647-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.647-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.647-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.647-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.647-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.647-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.644-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.644-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.644-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.644-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.647-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.647-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.644-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.647-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.644-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.788-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.785-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.587-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.584-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.587-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.578-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.578-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.578-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.578-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.578-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.578-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.578-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.578-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.578-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.575-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.575-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.578-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.575-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.524-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.524-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.524-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.524-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.524-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.524-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.455-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.521-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.521-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.521-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.452-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.452-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.407-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.284-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.578-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.578-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.788-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.788-642G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.3644G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.3857G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.3857G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.3857G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.3857G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.3854G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.3854G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.3854G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.3857G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.3857G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.3857G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.3857G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.3857G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.3857G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.3857G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.3857G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.3854G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.3854G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.3854G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.3854G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.3854G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.3854G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.3857G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.3857G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.3857G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.3857G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.3857G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.3857G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.3857G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.3857G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.3857G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.3857G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.3857G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.3854G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.3854G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.3854G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.3854G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.3854G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.3854G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.3854G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.3854G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.3854G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.3854G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.3854G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.3854G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.3857G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.3857G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.3857G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.3857G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.3854G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.3854G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.3848G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.3848G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.3734G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.3731G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.3857G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.3779G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.3779G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.3779G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.3779G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.3779G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.3779G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.3776G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.3776G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.3776G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.3776G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.3779G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.3734G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.3734G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.3734G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.3734G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.3734G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.3734G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.3731G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.3731G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.3731G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.3731G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.3734G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.3734G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.3734G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.3734G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.3734G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.3734G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.3734G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.3734G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.3734G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.3734G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.3857G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.3731G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.3731G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.3731G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.3731G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.3731G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.3731G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.3731G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.3716G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.3716G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.3716G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.3716G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.3716G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.3716G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.3716G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.3716G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.3716G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.3716G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.3716G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.3716G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.3716G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.3716G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.3716G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.3716G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.3716G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.3716G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.3716G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.3716G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.3716G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.3716G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.3713G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.3713G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.3713G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.3713G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.3713G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.3713G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.3713G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.3713G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.3713G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.3713G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.3716G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.3716G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.3716G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.3713G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.3713G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.3713G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.3713G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.3713G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.3713G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.3713G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.3713G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.3713G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.3713G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.3713G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.3716G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.3716G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.3716G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.3644G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.3857G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.3857G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.3857G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.3854G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.3854G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.3656G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.3734G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.3653G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.3653G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.3647G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.3647G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.3647G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.3647G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.3647G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.3647G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.3647G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.3647G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.3644G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.3644G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.3644G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.3644G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.3644G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.3644G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.3647G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.3647G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.3647G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.3647G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.3647G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.3647G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.3647G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.3647G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.3644G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.3644G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.3644G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.3644G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.3734G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.3593G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.3593G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.3593G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.3593G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.3593G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.3593G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.3593G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.3593G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.3593G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.3593G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.3590G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.3590G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.3590G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.3593G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.3590G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.3593G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.3590G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.3734G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.3734G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.3734G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.3731G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.3731G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.3716G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.3713G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.3716G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.3716G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.3524G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.3524G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.3524G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.3524G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.3524G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.3524G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.3524G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.3524G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.3521G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.3521G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.3521G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.3524G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.3521G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.3476G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.3476G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.3473G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.3476G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.3713G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.3353G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.2969G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.2969G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.1253G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.1253G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.3857G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.3716G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.3857G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000488329Counsyl
criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))		Uncertain significance
(Feb 26, 2016) 		unknownclinical testing

Counsyl Autosomal Dominant Disease Classification criteria (2015)

Citation Link

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Summary from all submissions

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

Details of each submission

From Counsyl, SCV000488329.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2024