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NM_007294.4(BRCA1):c.3857G>C (p.Ser1286Thr) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 9, 2023
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:
RCV000985410.5

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)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001133570Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Uncertain significance
(Mar 9, 2023) 		unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Concurrent alterations in TERT, KDM6A, and the BRCA pathway in bladder cancer.

Nickerson ML, Dancik GM, Im KM, Edwards MG, Turan S, Brown J, Ruiz-Rodriguez C, Owens C, Costello JC, Guo G, Tsang SX, Li Y, Zhou Q, Cai Z, Moore LE, Lucia MS, Dean M, Theodorescu D.

Clin Cancer Res. 2014 Sep 15;20(18):4935-48. doi: 10.1158/1078-0432.CCR-14-0330.

PubMed [citation]
PMID:
25225064
PMCID:
PMC4166537

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001133570.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

The frequency of this variant in the general population, 0.000004 (1/251106 chromosomes, http://gnomad.broadinstitute.org), is uninformative in assessment of its pathogenicity. In the published literature, the variant has been reported in the somatic state in an individual with bladder cancer (PMID: 25225064 (2014)). Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is benign. Based on the available information, we are unable to determine the clinical significance of this variant.

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

Last Updated: Oct 8, 2024