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NM_007294.4(BRCA1):c.3257T>C (p.Leu1086Ser) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 20, 2004
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000112038.3

Allele description [Variation Report for NM_007294.4(BRCA1):c.3257T>C (p.Leu1086Ser)]

NM_007294.4(BRCA1):c.3257T>C (p.Leu1086Ser)

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.3257T>C (p.Leu1086Ser)
HGVS:
  • NC_000017.11:g.43092274A>G
  • NG_005905.2:g.125710T>C
  • NG_087068.1:g.1256A>G
  • NM_001407571.1:c.3044T>C
  • NM_001407581.1:c.3257T>C
  • NM_001407582.1:c.3257T>C
  • NM_001407583.1:c.3257T>C
  • NM_001407585.1:c.3257T>C
  • NM_001407587.1:c.3254T>C
  • NM_001407590.1:c.3254T>C
  • NM_001407591.1:c.3254T>C
  • NM_001407593.1:c.3257T>C
  • NM_001407594.1:c.3257T>C
  • NM_001407596.1:c.3257T>C
  • NM_001407597.1:c.3257T>C
  • NM_001407598.1:c.3257T>C
  • NM_001407602.1:c.3257T>C
  • NM_001407603.1:c.3257T>C
  • NM_001407605.1:c.3257T>C
  • NM_001407610.1:c.3254T>C
  • NM_001407611.1:c.3254T>C
  • NM_001407612.1:c.3254T>C
  • NM_001407613.1:c.3254T>C
  • NM_001407614.1:c.3254T>C
  • NM_001407615.1:c.3254T>C
  • NM_001407616.1:c.3257T>C
  • NM_001407617.1:c.3257T>C
  • NM_001407618.1:c.3257T>C
  • NM_001407619.1:c.3257T>C
  • NM_001407620.1:c.3257T>C
  • NM_001407621.1:c.3257T>C
  • NM_001407622.1:c.3257T>C
  • NM_001407623.1:c.3257T>C
  • NM_001407624.1:c.3257T>C
  • NM_001407625.1:c.3257T>C
  • NM_001407626.1:c.3257T>C
  • NM_001407627.1:c.3254T>C
  • NM_001407628.1:c.3254T>C
  • NM_001407629.1:c.3254T>C
  • NM_001407630.1:c.3254T>C
  • NM_001407631.1:c.3254T>C
  • NM_001407632.1:c.3254T>C
  • NM_001407633.1:c.3254T>C
  • NM_001407634.1:c.3254T>C
  • NM_001407635.1:c.3254T>C
  • NM_001407636.1:c.3254T>C
  • NM_001407637.1:c.3254T>C
  • NM_001407638.1:c.3254T>C
  • NM_001407639.1:c.3257T>C
  • NM_001407640.1:c.3257T>C
  • NM_001407641.1:c.3257T>C
  • NM_001407642.1:c.3257T>C
  • NM_001407644.1:c.3254T>C
  • NM_001407645.1:c.3254T>C
  • NM_001407646.1:c.3248T>C
  • NM_001407647.1:c.3248T>C
  • NM_001407648.1:c.3134T>C
  • NM_001407649.1:c.3131T>C
  • NM_001407652.1:c.3257T>C
  • NM_001407653.1:c.3179T>C
  • NM_001407654.1:c.3179T>C
  • NM_001407655.1:c.3179T>C
  • NM_001407656.1:c.3179T>C
  • NM_001407657.1:c.3179T>C
  • NM_001407658.1:c.3179T>C
  • NM_001407659.1:c.3176T>C
  • NM_001407660.1:c.3176T>C
  • NM_001407661.1:c.3176T>C
  • NM_001407662.1:c.3176T>C
  • NM_001407663.1:c.3179T>C
  • NM_001407664.1:c.3134T>C
  • NM_001407665.1:c.3134T>C
  • NM_001407666.1:c.3134T>C
  • NM_001407667.1:c.3134T>C
  • NM_001407668.1:c.3134T>C
  • NM_001407669.1:c.3134T>C
  • NM_001407670.1:c.3131T>C
  • NM_001407671.1:c.3131T>C
  • NM_001407672.1:c.3131T>C
  • NM_001407673.1:c.3131T>C
  • NM_001407674.1:c.3134T>C
  • NM_001407675.1:c.3134T>C
  • NM_001407676.1:c.3134T>C
  • NM_001407677.1:c.3134T>C
  • NM_001407678.1:c.3134T>C
  • NM_001407679.1:c.3134T>C
  • NM_001407680.1:c.3134T>C
  • NM_001407681.1:c.3134T>C
  • NM_001407682.1:c.3134T>C
  • NM_001407683.1:c.3134T>C
  • NM_001407684.1:c.3257T>C
  • NM_001407685.1:c.3131T>C
  • NM_001407686.1:c.3131T>C
  • NM_001407687.1:c.3131T>C
  • NM_001407688.1:c.3131T>C
  • NM_001407689.1:c.3131T>C
  • NM_001407690.1:c.3131T>C
  • NM_001407691.1:c.3131T>C
  • NM_001407692.1:c.3116T>C
  • NM_001407694.1:c.3116T>C
  • NM_001407695.1:c.3116T>C
  • NM_001407696.1:c.3116T>C
  • NM_001407697.1:c.3116T>C
  • NM_001407698.1:c.3116T>C
  • NM_001407724.1:c.3116T>C
  • NM_001407725.1:c.3116T>C
  • NM_001407726.1:c.3116T>C
  • NM_001407727.1:c.3116T>C
  • NM_001407728.1:c.3116T>C
  • NM_001407729.1:c.3116T>C
  • NM_001407730.1:c.3116T>C
  • NM_001407731.1:c.3116T>C
  • NM_001407732.1:c.3116T>C
  • NM_001407733.1:c.3116T>C
  • NM_001407734.1:c.3116T>C
  • NM_001407735.1:c.3116T>C
  • NM_001407736.1:c.3116T>C
  • NM_001407737.1:c.3116T>C
  • NM_001407738.1:c.3116T>C
  • NM_001407739.1:c.3116T>C
  • NM_001407740.1:c.3113T>C
  • NM_001407741.1:c.3113T>C
  • NM_001407742.1:c.3113T>C
  • NM_001407743.1:c.3113T>C
  • NM_001407744.1:c.3113T>C
  • NM_001407745.1:c.3113T>C
  • NM_001407746.1:c.3113T>C
  • NM_001407747.1:c.3113T>C
  • NM_001407748.1:c.3113T>C
  • NM_001407749.1:c.3113T>C
  • NM_001407750.1:c.3116T>C
  • NM_001407751.1:c.3116T>C
  • NM_001407752.1:c.3116T>C
  • NM_001407838.1:c.3113T>C
  • NM_001407839.1:c.3113T>C
  • NM_001407841.1:c.3113T>C
  • NM_001407842.1:c.3113T>C
  • NM_001407843.1:c.3113T>C
  • NM_001407844.1:c.3113T>C
  • NM_001407845.1:c.3113T>C
  • NM_001407846.1:c.3113T>C
  • NM_001407847.1:c.3113T>C
  • NM_001407848.1:c.3113T>C
  • NM_001407849.1:c.3113T>C
  • NM_001407850.1:c.3116T>C
  • NM_001407851.1:c.3116T>C
  • NM_001407852.1:c.3116T>C
  • NM_001407853.1:c.3044T>C
  • NM_001407854.1:c.3257T>C
  • NM_001407858.1:c.3257T>C
  • NM_001407859.1:c.3257T>C
  • NM_001407860.1:c.3254T>C
  • NM_001407861.1:c.3254T>C
  • NM_001407862.1:c.3056T>C
  • NM_001407863.1:c.3134T>C
  • NM_001407874.1:c.3053T>C
  • NM_001407875.1:c.3053T>C
  • NM_001407879.1:c.3047T>C
  • NM_001407881.1:c.3047T>C
  • NM_001407882.1:c.3047T>C
  • NM_001407884.1:c.3047T>C
  • NM_001407885.1:c.3047T>C
  • NM_001407886.1:c.3047T>C
  • NM_001407887.1:c.3047T>C
  • NM_001407889.1:c.3047T>C
  • NM_001407894.1:c.3044T>C
  • NM_001407895.1:c.3044T>C
  • NM_001407896.1:c.3044T>C
  • NM_001407897.1:c.3044T>C
  • NM_001407898.1:c.3044T>C
  • NM_001407899.1:c.3044T>C
  • NM_001407900.1:c.3047T>C
  • NM_001407902.1:c.3047T>C
  • NM_001407904.1:c.3047T>C
  • NM_001407906.1:c.3047T>C
  • NM_001407907.1:c.3047T>C
  • NM_001407908.1:c.3047T>C
  • NM_001407909.1:c.3047T>C
  • NM_001407910.1:c.3047T>C
  • NM_001407915.1:c.3044T>C
  • NM_001407916.1:c.3044T>C
  • NM_001407917.1:c.3044T>C
  • NM_001407918.1:c.3044T>C
  • NM_001407919.1:c.3134T>C
  • NM_001407920.1:c.2993T>C
  • NM_001407921.1:c.2993T>C
  • NM_001407922.1:c.2993T>C
  • NM_001407923.1:c.2993T>C
  • NM_001407924.1:c.2993T>C
  • NM_001407925.1:c.2993T>C
  • NM_001407926.1:c.2993T>C
  • NM_001407927.1:c.2993T>C
  • NM_001407928.1:c.2993T>C
  • NM_001407929.1:c.2993T>C
  • NM_001407930.1:c.2990T>C
  • NM_001407931.1:c.2990T>C
  • NM_001407932.1:c.2990T>C
  • NM_001407933.1:c.2993T>C
  • NM_001407934.1:c.2990T>C
  • NM_001407935.1:c.2993T>C
  • NM_001407936.1:c.2990T>C
  • NM_001407937.1:c.3134T>C
  • NM_001407938.1:c.3134T>C
  • NM_001407939.1:c.3134T>C
  • NM_001407940.1:c.3131T>C
  • NM_001407941.1:c.3131T>C
  • NM_001407942.1:c.3116T>C
  • NM_001407943.1:c.3113T>C
  • NM_001407944.1:c.3116T>C
  • NM_001407945.1:c.3116T>C
  • NM_001407946.1:c.2924T>C
  • NM_001407947.1:c.2924T>C
  • NM_001407948.1:c.2924T>C
  • NM_001407949.1:c.2924T>C
  • NM_001407950.1:c.2924T>C
  • NM_001407951.1:c.2924T>C
  • NM_001407952.1:c.2924T>C
  • NM_001407953.1:c.2924T>C
  • NM_001407954.1:c.2921T>C
  • NM_001407955.1:c.2921T>C
  • NM_001407956.1:c.2921T>C
  • NM_001407957.1:c.2924T>C
  • NM_001407958.1:c.2921T>C
  • NM_001407959.1:c.2876T>C
  • NM_001407960.1:c.2876T>C
  • NM_001407962.1:c.2873T>C
  • NM_001407963.1:c.2876T>C
  • NM_001407964.1:c.3113T>C
  • NM_001407965.1:c.2753T>C
  • NM_001407966.1:c.2369T>C
  • NM_001407967.1:c.2369T>C
  • NM_001407968.1:c.788-135T>C
  • NM_001407969.1:c.788-135T>C
  • NM_001407970.1:c.788-1242T>C
  • NM_001407971.1:c.788-1242T>C
  • NM_001407972.1:c.785-1242T>C
  • NM_001407973.1:c.788-1242T>C
  • NM_001407974.1:c.788-1242T>C
  • NM_001407975.1:c.788-1242T>C
  • NM_001407976.1:c.788-1242T>C
  • NM_001407977.1:c.788-1242T>C
  • NM_001407978.1:c.788-1242T>C
  • NM_001407979.1:c.788-1242T>C
  • NM_001407980.1:c.788-1242T>C
  • NM_001407981.1:c.788-1242T>C
  • NM_001407982.1:c.788-1242T>C
  • NM_001407983.1:c.788-1242T>C
  • NM_001407984.1:c.785-1242T>C
  • NM_001407985.1:c.785-1242T>C
  • NM_001407986.1:c.785-1242T>C
  • NM_001407990.1:c.788-1242T>C
  • NM_001407991.1:c.785-1242T>C
  • NM_001407992.1:c.785-1242T>C
  • NM_001407993.1:c.788-1242T>C
  • NM_001408392.1:c.785-1242T>C
  • NM_001408396.1:c.785-1242T>C
  • NM_001408397.1:c.785-1242T>C
  • NM_001408398.1:c.785-1242T>C
  • NM_001408399.1:c.785-1242T>C
  • NM_001408400.1:c.785-1242T>C
  • NM_001408401.1:c.785-1242T>C
  • NM_001408402.1:c.785-1242T>C
  • NM_001408403.1:c.788-1242T>C
  • NM_001408404.1:c.788-1242T>C
  • NM_001408406.1:c.791-1251T>C
  • NM_001408407.1:c.785-1242T>C
  • NM_001408408.1:c.779-1242T>C
  • NM_001408409.1:c.710-1242T>C
  • NM_001408410.1:c.647-1242T>C
  • NM_001408411.1:c.710-1242T>C
  • NM_001408412.1:c.710-1242T>C
  • NM_001408413.1:c.707-1242T>C
  • NM_001408414.1:c.710-1242T>C
  • NM_001408415.1:c.710-1242T>C
  • NM_001408416.1:c.707-1242T>C
  • NM_001408418.1:c.671-1242T>C
  • NM_001408419.1:c.671-1242T>C
  • NM_001408420.1:c.671-1242T>C
  • NM_001408421.1:c.668-1242T>C
  • NM_001408422.1:c.671-1242T>C
  • NM_001408423.1:c.671-1242T>C
  • NM_001408424.1:c.668-1242T>C
  • NM_001408425.1:c.665-1242T>C
  • NM_001408426.1:c.665-1242T>C
  • NM_001408427.1:c.665-1242T>C
  • NM_001408428.1:c.665-1242T>C
  • NM_001408429.1:c.665-1242T>C
  • NM_001408430.1:c.665-1242T>C
  • NM_001408431.1:c.668-1242T>C
  • NM_001408432.1:c.662-1242T>C
  • NM_001408433.1:c.662-1242T>C
  • NM_001408434.1:c.662-1242T>C
  • NM_001408435.1:c.662-1242T>C
  • NM_001408436.1:c.665-1242T>C
  • NM_001408437.1:c.665-1242T>C
  • NM_001408438.1:c.665-1242T>C
  • NM_001408439.1:c.665-1242T>C
  • NM_001408440.1:c.665-1242T>C
  • NM_001408441.1:c.665-1242T>C
  • NM_001408442.1:c.665-1242T>C
  • NM_001408443.1:c.665-1242T>C
  • NM_001408444.1:c.665-1242T>C
  • NM_001408445.1:c.662-1242T>C
  • NM_001408446.1:c.662-1242T>C
  • NM_001408447.1:c.662-1242T>C
  • NM_001408448.1:c.662-1242T>C
  • NM_001408450.1:c.662-1242T>C
  • NM_001408451.1:c.653-1242T>C
  • NM_001408452.1:c.647-1242T>C
  • NM_001408453.1:c.647-1242T>C
  • NM_001408454.1:c.647-1242T>C
  • NM_001408455.1:c.647-1242T>C
  • NM_001408456.1:c.647-1242T>C
  • NM_001408457.1:c.647-1242T>C
  • NM_001408458.1:c.647-1242T>C
  • NM_001408459.1:c.647-1242T>C
  • NM_001408460.1:c.647-1242T>C
  • NM_001408461.1:c.647-1242T>C
  • NM_001408462.1:c.644-1242T>C
  • NM_001408463.1:c.644-1242T>C
  • NM_001408464.1:c.644-1242T>C
  • NM_001408465.1:c.644-1242T>C
  • NM_001408466.1:c.647-1242T>C
  • NM_001408467.1:c.647-1242T>C
  • NM_001408468.1:c.644-1242T>C
  • NM_001408469.1:c.647-1242T>C
  • NM_001408470.1:c.644-1242T>C
  • NM_001408472.1:c.788-1242T>C
  • NM_001408473.1:c.785-1242T>C
  • NM_001408474.1:c.587-1242T>C
  • NM_001408475.1:c.584-1242T>C
  • NM_001408476.1:c.587-1242T>C
  • NM_001408478.1:c.578-1242T>C
  • NM_001408479.1:c.578-1242T>C
  • NM_001408480.1:c.578-1242T>C
  • NM_001408481.1:c.578-1242T>C
  • NM_001408482.1:c.578-1242T>C
  • NM_001408483.1:c.578-1242T>C
  • NM_001408484.1:c.578-1242T>C
  • NM_001408485.1:c.578-1242T>C
  • NM_001408489.1:c.578-1242T>C
  • NM_001408490.1:c.575-1242T>C
  • NM_001408491.1:c.575-1242T>C
  • NM_001408492.1:c.578-1242T>C
  • NM_001408493.1:c.575-1242T>C
  • NM_001408494.1:c.548-1242T>C
  • NM_001408495.1:c.545-1242T>C
  • NM_001408496.1:c.524-1242T>C
  • NM_001408497.1:c.524-1242T>C
  • NM_001408498.1:c.524-1242T>C
  • NM_001408499.1:c.524-1242T>C
  • NM_001408500.1:c.524-1242T>C
  • NM_001408501.1:c.524-1242T>C
  • NM_001408502.1:c.455-1242T>C
  • NM_001408503.1:c.521-1242T>C
  • NM_001408504.1:c.521-1242T>C
  • NM_001408505.1:c.521-1242T>C
  • NM_001408506.1:c.461-1242T>C
  • NM_001408507.1:c.461-1242T>C
  • NM_001408508.1:c.452-1242T>C
  • NM_001408509.1:c.452-1242T>C
  • NM_001408510.1:c.407-1242T>C
  • NM_001408511.1:c.404-1242T>C
  • NM_001408512.1:c.284-1242T>C
  • NM_001408513.1:c.578-1242T>C
  • NM_001408514.1:c.578-1242T>C
  • NM_007294.4:c.3257T>CMANE SELECT
  • NM_007297.4:c.3116T>C
  • NM_007298.4:c.788-1242T>C
  • NM_007299.4:c.788-1242T>C
  • NM_007300.4:c.3257T>C
  • NP_001394500.1:p.Leu1015Ser
  • NP_001394510.1:p.Leu1086Ser
  • NP_001394511.1:p.Leu1086Ser
  • NP_001394512.1:p.Leu1086Ser
  • NP_001394514.1:p.Leu1086Ser
  • NP_001394516.1:p.Leu1085Ser
  • NP_001394519.1:p.Leu1085Ser
  • NP_001394520.1:p.Leu1085Ser
  • NP_001394522.1:p.Leu1086Ser
  • NP_001394523.1:p.Leu1086Ser
  • NP_001394525.1:p.Leu1086Ser
  • NP_001394526.1:p.Leu1086Ser
  • NP_001394527.1:p.Leu1086Ser
  • NP_001394531.1:p.Leu1086Ser
  • NP_001394532.1:p.Leu1086Ser
  • NP_001394534.1:p.Leu1086Ser
  • NP_001394539.1:p.Leu1085Ser
  • NP_001394540.1:p.Leu1085Ser
  • NP_001394541.1:p.Leu1085Ser
  • NP_001394542.1:p.Leu1085Ser
  • NP_001394543.1:p.Leu1085Ser
  • NP_001394544.1:p.Leu1085Ser
  • NP_001394545.1:p.Leu1086Ser
  • NP_001394546.1:p.Leu1086Ser
  • NP_001394547.1:p.Leu1086Ser
  • NP_001394548.1:p.Leu1086Ser
  • NP_001394549.1:p.Leu1086Ser
  • NP_001394550.1:p.Leu1086Ser
  • NP_001394551.1:p.Leu1086Ser
  • NP_001394552.1:p.Leu1086Ser
  • NP_001394553.1:p.Leu1086Ser
  • NP_001394554.1:p.Leu1086Ser
  • NP_001394555.1:p.Leu1086Ser
  • NP_001394556.1:p.Leu1085Ser
  • NP_001394557.1:p.Leu1085Ser
  • NP_001394558.1:p.Leu1085Ser
  • NP_001394559.1:p.Leu1085Ser
  • NP_001394560.1:p.Leu1085Ser
  • NP_001394561.1:p.Leu1085Ser
  • NP_001394562.1:p.Leu1085Ser
  • NP_001394563.1:p.Leu1085Ser
  • NP_001394564.1:p.Leu1085Ser
  • NP_001394565.1:p.Leu1085Ser
  • NP_001394566.1:p.Leu1085Ser
  • NP_001394567.1:p.Leu1085Ser
  • NP_001394568.1:p.Leu1086Ser
  • NP_001394569.1:p.Leu1086Ser
  • NP_001394570.1:p.Leu1086Ser
  • NP_001394571.1:p.Leu1086Ser
  • NP_001394573.1:p.Leu1085Ser
  • NP_001394574.1:p.Leu1085Ser
  • NP_001394575.1:p.Leu1083Ser
  • NP_001394576.1:p.Leu1083Ser
  • NP_001394577.1:p.Leu1045Ser
  • NP_001394578.1:p.Leu1044Ser
  • NP_001394581.1:p.Leu1086Ser
  • NP_001394582.1:p.Leu1060Ser
  • NP_001394583.1:p.Leu1060Ser
  • NP_001394584.1:p.Leu1060Ser
  • NP_001394585.1:p.Leu1060Ser
  • NP_001394586.1:p.Leu1060Ser
  • NP_001394587.1:p.Leu1060Ser
  • NP_001394588.1:p.Leu1059Ser
  • NP_001394589.1:p.Leu1059Ser
  • NP_001394590.1:p.Leu1059Ser
  • NP_001394591.1:p.Leu1059Ser
  • NP_001394592.1:p.Leu1060Ser
  • NP_001394593.1:p.Leu1045Ser
  • NP_001394594.1:p.Leu1045Ser
  • NP_001394595.1:p.Leu1045Ser
  • NP_001394596.1:p.Leu1045Ser
  • NP_001394597.1:p.Leu1045Ser
  • NP_001394598.1:p.Leu1045Ser
  • NP_001394599.1:p.Leu1044Ser
  • NP_001394600.1:p.Leu1044Ser
  • NP_001394601.1:p.Leu1044Ser
  • NP_001394602.1:p.Leu1044Ser
  • NP_001394603.1:p.Leu1045Ser
  • NP_001394604.1:p.Leu1045Ser
  • NP_001394605.1:p.Leu1045Ser
  • NP_001394606.1:p.Leu1045Ser
  • NP_001394607.1:p.Leu1045Ser
  • NP_001394608.1:p.Leu1045Ser
  • NP_001394609.1:p.Leu1045Ser
  • NP_001394610.1:p.Leu1045Ser
  • NP_001394611.1:p.Leu1045Ser
  • NP_001394612.1:p.Leu1045Ser
  • NP_001394613.1:p.Leu1086Ser
  • NP_001394614.1:p.Leu1044Ser
  • NP_001394615.1:p.Leu1044Ser
  • NP_001394616.1:p.Leu1044Ser
  • NP_001394617.1:p.Leu1044Ser
  • NP_001394618.1:p.Leu1044Ser
  • NP_001394619.1:p.Leu1044Ser
  • NP_001394620.1:p.Leu1044Ser
  • NP_001394621.1:p.Leu1039Ser
  • NP_001394623.1:p.Leu1039Ser
  • NP_001394624.1:p.Leu1039Ser
  • NP_001394625.1:p.Leu1039Ser
  • NP_001394626.1:p.Leu1039Ser
  • NP_001394627.1:p.Leu1039Ser
  • NP_001394653.1:p.Leu1039Ser
  • NP_001394654.1:p.Leu1039Ser
  • NP_001394655.1:p.Leu1039Ser
  • NP_001394656.1:p.Leu1039Ser
  • NP_001394657.1:p.Leu1039Ser
  • NP_001394658.1:p.Leu1039Ser
  • NP_001394659.1:p.Leu1039Ser
  • NP_001394660.1:p.Leu1039Ser
  • NP_001394661.1:p.Leu1039Ser
  • NP_001394662.1:p.Leu1039Ser
  • NP_001394663.1:p.Leu1039Ser
  • NP_001394664.1:p.Leu1039Ser
  • NP_001394665.1:p.Leu1039Ser
  • NP_001394666.1:p.Leu1039Ser
  • NP_001394667.1:p.Leu1039Ser
  • NP_001394668.1:p.Leu1039Ser
  • NP_001394669.1:p.Leu1038Ser
  • NP_001394670.1:p.Leu1038Ser
  • NP_001394671.1:p.Leu1038Ser
  • NP_001394672.1:p.Leu1038Ser
  • NP_001394673.1:p.Leu1038Ser
  • NP_001394674.1:p.Leu1038Ser
  • NP_001394675.1:p.Leu1038Ser
  • NP_001394676.1:p.Leu1038Ser
  • NP_001394677.1:p.Leu1038Ser
  • NP_001394678.1:p.Leu1038Ser
  • NP_001394679.1:p.Leu1039Ser
  • NP_001394680.1:p.Leu1039Ser
  • NP_001394681.1:p.Leu1039Ser
  • NP_001394767.1:p.Leu1038Ser
  • NP_001394768.1:p.Leu1038Ser
  • NP_001394770.1:p.Leu1038Ser
  • NP_001394771.1:p.Leu1038Ser
  • NP_001394772.1:p.Leu1038Ser
  • NP_001394773.1:p.Leu1038Ser
  • NP_001394774.1:p.Leu1038Ser
  • NP_001394775.1:p.Leu1038Ser
  • NP_001394776.1:p.Leu1038Ser
  • NP_001394777.1:p.Leu1038Ser
  • NP_001394778.1:p.Leu1038Ser
  • NP_001394779.1:p.Leu1039Ser
  • NP_001394780.1:p.Leu1039Ser
  • NP_001394781.1:p.Leu1039Ser
  • NP_001394782.1:p.Leu1015Ser
  • NP_001394783.1:p.Leu1086Ser
  • NP_001394787.1:p.Leu1086Ser
  • NP_001394788.1:p.Leu1086Ser
  • NP_001394789.1:p.Leu1085Ser
  • NP_001394790.1:p.Leu1085Ser
  • NP_001394791.1:p.Leu1019Ser
  • NP_001394792.1:p.Leu1045Ser
  • NP_001394803.1:p.Leu1018Ser
  • NP_001394804.1:p.Leu1018Ser
  • NP_001394808.1:p.Leu1016Ser
  • NP_001394810.1:p.Leu1016Ser
  • NP_001394811.1:p.Leu1016Ser
  • NP_001394813.1:p.Leu1016Ser
  • NP_001394814.1:p.Leu1016Ser
  • NP_001394815.1:p.Leu1016Ser
  • NP_001394816.1:p.Leu1016Ser
  • NP_001394818.1:p.Leu1016Ser
  • NP_001394823.1:p.Leu1015Ser
  • NP_001394824.1:p.Leu1015Ser
  • NP_001394825.1:p.Leu1015Ser
  • NP_001394826.1:p.Leu1015Ser
  • NP_001394827.1:p.Leu1015Ser
  • NP_001394828.1:p.Leu1015Ser
  • NP_001394829.1:p.Leu1016Ser
  • NP_001394831.1:p.Leu1016Ser
  • NP_001394833.1:p.Leu1016Ser
  • NP_001394835.1:p.Leu1016Ser
  • NP_001394836.1:p.Leu1016Ser
  • NP_001394837.1:p.Leu1016Ser
  • NP_001394838.1:p.Leu1016Ser
  • NP_001394839.1:p.Leu1016Ser
  • NP_001394844.1:p.Leu1015Ser
  • NP_001394845.1:p.Leu1015Ser
  • NP_001394846.1:p.Leu1015Ser
  • NP_001394847.1:p.Leu1015Ser
  • NP_001394848.1:p.Leu1045Ser
  • NP_001394849.1:p.Leu998Ser
  • NP_001394850.1:p.Leu998Ser
  • NP_001394851.1:p.Leu998Ser
  • NP_001394852.1:p.Leu998Ser
  • NP_001394853.1:p.Leu998Ser
  • NP_001394854.1:p.Leu998Ser
  • NP_001394855.1:p.Leu998Ser
  • NP_001394856.1:p.Leu998Ser
  • NP_001394857.1:p.Leu998Ser
  • NP_001394858.1:p.Leu998Ser
  • NP_001394859.1:p.Leu997Ser
  • NP_001394860.1:p.Leu997Ser
  • NP_001394861.1:p.Leu997Ser
  • NP_001394862.1:p.Leu998Ser
  • NP_001394863.1:p.Leu997Ser
  • NP_001394864.1:p.Leu998Ser
  • NP_001394865.1:p.Leu997Ser
  • NP_001394866.1:p.Leu1045Ser
  • NP_001394867.1:p.Leu1045Ser
  • NP_001394868.1:p.Leu1045Ser
  • NP_001394869.1:p.Leu1044Ser
  • NP_001394870.1:p.Leu1044Ser
  • NP_001394871.1:p.Leu1039Ser
  • NP_001394872.1:p.Leu1038Ser
  • NP_001394873.1:p.Leu1039Ser
  • NP_001394874.1:p.Leu1039Ser
  • NP_001394875.1:p.Leu975Ser
  • NP_001394876.1:p.Leu975Ser
  • NP_001394877.1:p.Leu975Ser
  • NP_001394878.1:p.Leu975Ser
  • NP_001394879.1:p.Leu975Ser
  • NP_001394880.1:p.Leu975Ser
  • NP_001394881.1:p.Leu975Ser
  • NP_001394882.1:p.Leu975Ser
  • NP_001394883.1:p.Leu974Ser
  • NP_001394884.1:p.Leu974Ser
  • NP_001394885.1:p.Leu974Ser
  • NP_001394886.1:p.Leu975Ser
  • NP_001394887.1:p.Leu974Ser
  • NP_001394888.1:p.Leu959Ser
  • NP_001394889.1:p.Leu959Ser
  • NP_001394891.1:p.Leu958Ser
  • NP_001394892.1:p.Leu959Ser
  • NP_001394893.1:p.Leu1038Ser
  • NP_001394894.1:p.Leu918Ser
  • NP_001394895.1:p.Leu790Ser
  • NP_001394896.1:p.Leu790Ser
  • NP_009225.1:p.Leu1086Ser
  • NP_009225.1:p.Leu1086Ser
  • NP_009228.2:p.Leu1039Ser
  • NP_009231.2:p.Leu1086Ser
  • LRG_292t1:c.3257T>C
  • LRG_292:g.125710T>C
  • LRG_292p1:p.Leu1086Ser
  • NC_000017.10:g.41244291A>G
  • NM_007294.3:c.3257T>C
  • NR_027676.1:n.3393T>C
  • U14680.1:n.3376T>C
Protein change:
L1015S
Links:
dbSNP: rs80357006
NCBI 1000 Genomes Browser:
rs80357006
Molecular consequence:
  • NM_001407968.1:c.788-135T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.788-135T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.788-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.788-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.785-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.788-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.788-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.788-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.788-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.788-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.788-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.788-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.788-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.788-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.788-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.788-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.785-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.785-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.785-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.788-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.785-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.785-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.788-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.785-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.785-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.785-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.785-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.785-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.785-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.785-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.785-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.788-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.788-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.791-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.785-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.779-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.710-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.647-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.710-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.710-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.707-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.710-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.710-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.707-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.665-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.665-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.665-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.665-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.665-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.665-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.662-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.662-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.662-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.662-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.665-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.665-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.665-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.665-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.665-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.665-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.665-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.665-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.665-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.662-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.662-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.662-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.662-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.662-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.653-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.647-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.647-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.647-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.647-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.647-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.647-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.647-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.647-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.647-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.647-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.644-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.644-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.644-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.644-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.647-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.647-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.644-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.647-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.644-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.788-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.785-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.587-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.584-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.587-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.578-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.578-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.578-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.578-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.578-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.578-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.578-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.578-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.578-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.575-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.575-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.578-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.575-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.524-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.524-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.524-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.524-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.524-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.524-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.455-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.521-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.521-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.521-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.452-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.452-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.407-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.284-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.578-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.578-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.788-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.788-1242T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.3044T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.3257T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.3257T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.3257T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.3257T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.3254T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.3254T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.3254T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.3257T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.3257T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.3257T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.3257T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.3257T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.3257T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.3257T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.3257T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.3254T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.3254T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.3254T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.3254T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.3254T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.3254T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.3257T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.3257T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.3257T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.3257T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.3257T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.3257T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.3257T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.3257T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.3257T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.3257T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.3257T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.3254T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.3254T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.3254T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.3254T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.3254T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.3254T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.3254T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.3254T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.3254T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.3254T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.3254T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.3254T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.3257T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.3257T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.3257T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.3257T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.3254T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.3254T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.3248T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.3248T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.3134T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.3131T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.3257T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.3179T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.3179T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.3179T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.3179T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.3179T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.3179T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.3176T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.3176T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.3176T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.3176T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.3179T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.3134T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.3134T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.3134T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.3134T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.3134T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.3134T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.3131T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.3131T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.3131T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.3131T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.3134T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.3134T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.3134T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.3134T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.3134T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.3134T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.3134T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.3134T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.3134T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.3134T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.3257T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.3131T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.3131T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.3131T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.3131T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.3131T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.3131T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.3131T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.3116T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.3116T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.3116T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.3116T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.3116T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.3116T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.3116T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.3116T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.3116T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.3116T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.3116T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.3116T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.3116T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.3116T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.3116T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.3116T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.3116T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.3116T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.3116T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.3116T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.3116T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.3116T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.3113T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.3113T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.3113T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.3113T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.3113T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.3113T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.3113T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.3113T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.3113T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.3113T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.3116T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.3116T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.3116T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.3113T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.3113T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.3113T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.3113T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.3113T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.3113T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.3113T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.3113T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.3113T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.3113T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.3113T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.3116T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.3116T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.3116T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.3044T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.3257T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.3257T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.3257T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.3254T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.3254T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.3056T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.3134T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.3053T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.3053T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.3047T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.3047T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.3047T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.3047T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.3047T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.3047T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.3047T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.3047T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.3044T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.3044T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.3044T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.3044T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.3044T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.3044T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.3047T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.3047T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.3047T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.3047T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.3047T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.3047T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.3047T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.3047T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.3044T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.3044T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.3044T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.3044T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.3134T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.2993T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.2993T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.2993T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.2993T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.2993T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.2993T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.2993T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.2993T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.2993T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.2993T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.2990T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.2990T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.2990T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.2993T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.2990T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.2993T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.2990T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.3134T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.3134T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.3134T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.3131T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.3131T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.3116T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.3113T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.3116T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.3116T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.2924T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.2924T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.2924T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.2924T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.2924T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.2924T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.2924T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.2924T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.2921T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.2921T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.2921T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.2924T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.2921T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.2876T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.2876T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.2873T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.2876T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.3113T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.2753T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.2369T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.2369T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.3257T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.3116T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.3257T>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000144690Breast Cancer Information Core (BIC) (BRCA1)
no assertion criteria provided
Uncertain significance
(Feb 20, 2004) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Ashkenazi, Central/Eastern Europeangermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA1), SCV000144690.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Ashkenazi, Central/Eastern European1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 8, 2024