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NM_007294.4(BRCA1):c.4009G>C (p.Asp1337His) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 13, 2016
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000259337.2

Allele description [Variation Report for NM_007294.4(BRCA1):c.4009G>C (p.Asp1337His)]

NM_007294.4(BRCA1):c.4009G>C (p.Asp1337His)

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.4009G>C (p.Asp1337His)
HGVS:
  • NC_000017.11:g.43091522C>G
  • NG_005905.2:g.126462G>C
  • NG_087068.1:g.504C>G
  • NM_001407571.1:c.3796G>C
  • NM_001407581.1:c.4009G>C
  • NM_001407582.1:c.4009G>C
  • NM_001407583.1:c.4009G>C
  • NM_001407585.1:c.4009G>C
  • NM_001407587.1:c.4006G>C
  • NM_001407590.1:c.4006G>C
  • NM_001407591.1:c.4006G>C
  • NM_001407593.1:c.4009G>C
  • NM_001407594.1:c.4009G>C
  • NM_001407596.1:c.4009G>C
  • NM_001407597.1:c.4009G>C
  • NM_001407598.1:c.4009G>C
  • NM_001407602.1:c.4009G>C
  • NM_001407603.1:c.4009G>C
  • NM_001407605.1:c.4009G>C
  • NM_001407610.1:c.4006G>C
  • NM_001407611.1:c.4006G>C
  • NM_001407612.1:c.4006G>C
  • NM_001407613.1:c.4006G>C
  • NM_001407614.1:c.4006G>C
  • NM_001407615.1:c.4006G>C
  • NM_001407616.1:c.4009G>C
  • NM_001407617.1:c.4009G>C
  • NM_001407618.1:c.4009G>C
  • NM_001407619.1:c.4009G>C
  • NM_001407620.1:c.4009G>C
  • NM_001407621.1:c.4009G>C
  • NM_001407622.1:c.4009G>C
  • NM_001407623.1:c.4009G>C
  • NM_001407624.1:c.4009G>C
  • NM_001407625.1:c.4009G>C
  • NM_001407626.1:c.4009G>C
  • NM_001407627.1:c.4006G>C
  • NM_001407628.1:c.4006G>C
  • NM_001407629.1:c.4006G>C
  • NM_001407630.1:c.4006G>C
  • NM_001407631.1:c.4006G>C
  • NM_001407632.1:c.4006G>C
  • NM_001407633.1:c.4006G>C
  • NM_001407634.1:c.4006G>C
  • NM_001407635.1:c.4006G>C
  • NM_001407636.1:c.4006G>C
  • NM_001407637.1:c.4006G>C
  • NM_001407638.1:c.4006G>C
  • NM_001407639.1:c.4009G>C
  • NM_001407640.1:c.4009G>C
  • NM_001407641.1:c.4009G>C
  • NM_001407642.1:c.4009G>C
  • NM_001407644.1:c.4006G>C
  • NM_001407645.1:c.4006G>C
  • NM_001407646.1:c.4000G>C
  • NM_001407647.1:c.4000G>C
  • NM_001407648.1:c.3886G>C
  • NM_001407649.1:c.3883G>C
  • NM_001407652.1:c.4009G>C
  • NM_001407653.1:c.3931G>C
  • NM_001407654.1:c.3931G>C
  • NM_001407655.1:c.3931G>C
  • NM_001407656.1:c.3931G>C
  • NM_001407657.1:c.3931G>C
  • NM_001407658.1:c.3931G>C
  • NM_001407659.1:c.3928G>C
  • NM_001407660.1:c.3928G>C
  • NM_001407661.1:c.3928G>C
  • NM_001407662.1:c.3928G>C
  • NM_001407663.1:c.3931G>C
  • NM_001407664.1:c.3886G>C
  • NM_001407665.1:c.3886G>C
  • NM_001407666.1:c.3886G>C
  • NM_001407667.1:c.3886G>C
  • NM_001407668.1:c.3886G>C
  • NM_001407669.1:c.3886G>C
  • NM_001407670.1:c.3883G>C
  • NM_001407671.1:c.3883G>C
  • NM_001407672.1:c.3883G>C
  • NM_001407673.1:c.3883G>C
  • NM_001407674.1:c.3886G>C
  • NM_001407675.1:c.3886G>C
  • NM_001407676.1:c.3886G>C
  • NM_001407677.1:c.3886G>C
  • NM_001407678.1:c.3886G>C
  • NM_001407679.1:c.3886G>C
  • NM_001407680.1:c.3886G>C
  • NM_001407681.1:c.3886G>C
  • NM_001407682.1:c.3886G>C
  • NM_001407683.1:c.3886G>C
  • NM_001407684.1:c.4009G>C
  • NM_001407685.1:c.3883G>C
  • NM_001407686.1:c.3883G>C
  • NM_001407687.1:c.3883G>C
  • NM_001407688.1:c.3883G>C
  • NM_001407689.1:c.3883G>C
  • NM_001407690.1:c.3883G>C
  • NM_001407691.1:c.3883G>C
  • NM_001407692.1:c.3868G>C
  • NM_001407694.1:c.3868G>C
  • NM_001407695.1:c.3868G>C
  • NM_001407696.1:c.3868G>C
  • NM_001407697.1:c.3868G>C
  • NM_001407698.1:c.3868G>C
  • NM_001407724.1:c.3868G>C
  • NM_001407725.1:c.3868G>C
  • NM_001407726.1:c.3868G>C
  • NM_001407727.1:c.3868G>C
  • NM_001407728.1:c.3868G>C
  • NM_001407729.1:c.3868G>C
  • NM_001407730.1:c.3868G>C
  • NM_001407731.1:c.3868G>C
  • NM_001407732.1:c.3868G>C
  • NM_001407733.1:c.3868G>C
  • NM_001407734.1:c.3868G>C
  • NM_001407735.1:c.3868G>C
  • NM_001407736.1:c.3868G>C
  • NM_001407737.1:c.3868G>C
  • NM_001407738.1:c.3868G>C
  • NM_001407739.1:c.3868G>C
  • NM_001407740.1:c.3865G>C
  • NM_001407741.1:c.3865G>C
  • NM_001407742.1:c.3865G>C
  • NM_001407743.1:c.3865G>C
  • NM_001407744.1:c.3865G>C
  • NM_001407745.1:c.3865G>C
  • NM_001407746.1:c.3865G>C
  • NM_001407747.1:c.3865G>C
  • NM_001407748.1:c.3865G>C
  • NM_001407749.1:c.3865G>C
  • NM_001407750.1:c.3868G>C
  • NM_001407751.1:c.3868G>C
  • NM_001407752.1:c.3868G>C
  • NM_001407838.1:c.3865G>C
  • NM_001407839.1:c.3865G>C
  • NM_001407841.1:c.3865G>C
  • NM_001407842.1:c.3865G>C
  • NM_001407843.1:c.3865G>C
  • NM_001407844.1:c.3865G>C
  • NM_001407845.1:c.3865G>C
  • NM_001407846.1:c.3865G>C
  • NM_001407847.1:c.3865G>C
  • NM_001407848.1:c.3865G>C
  • NM_001407849.1:c.3865G>C
  • NM_001407850.1:c.3868G>C
  • NM_001407851.1:c.3868G>C
  • NM_001407852.1:c.3868G>C
  • NM_001407853.1:c.3796G>C
  • NM_001407854.1:c.4009G>C
  • NM_001407858.1:c.4009G>C
  • NM_001407859.1:c.4009G>C
  • NM_001407860.1:c.4006G>C
  • NM_001407861.1:c.4006G>C
  • NM_001407862.1:c.3808G>C
  • NM_001407863.1:c.3886G>C
  • NM_001407874.1:c.3805G>C
  • NM_001407875.1:c.3805G>C
  • NM_001407879.1:c.3799G>C
  • NM_001407881.1:c.3799G>C
  • NM_001407882.1:c.3799G>C
  • NM_001407884.1:c.3799G>C
  • NM_001407885.1:c.3799G>C
  • NM_001407886.1:c.3799G>C
  • NM_001407887.1:c.3799G>C
  • NM_001407889.1:c.3799G>C
  • NM_001407894.1:c.3796G>C
  • NM_001407895.1:c.3796G>C
  • NM_001407896.1:c.3796G>C
  • NM_001407897.1:c.3796G>C
  • NM_001407898.1:c.3796G>C
  • NM_001407899.1:c.3796G>C
  • NM_001407900.1:c.3799G>C
  • NM_001407902.1:c.3799G>C
  • NM_001407904.1:c.3799G>C
  • NM_001407906.1:c.3799G>C
  • NM_001407907.1:c.3799G>C
  • NM_001407908.1:c.3799G>C
  • NM_001407909.1:c.3799G>C
  • NM_001407910.1:c.3799G>C
  • NM_001407915.1:c.3796G>C
  • NM_001407916.1:c.3796G>C
  • NM_001407917.1:c.3796G>C
  • NM_001407918.1:c.3796G>C
  • NM_001407919.1:c.3886G>C
  • NM_001407920.1:c.3745G>C
  • NM_001407921.1:c.3745G>C
  • NM_001407922.1:c.3745G>C
  • NM_001407923.1:c.3745G>C
  • NM_001407924.1:c.3745G>C
  • NM_001407925.1:c.3745G>C
  • NM_001407926.1:c.3745G>C
  • NM_001407927.1:c.3745G>C
  • NM_001407928.1:c.3745G>C
  • NM_001407929.1:c.3745G>C
  • NM_001407930.1:c.3742G>C
  • NM_001407931.1:c.3742G>C
  • NM_001407932.1:c.3742G>C
  • NM_001407933.1:c.3745G>C
  • NM_001407934.1:c.3742G>C
  • NM_001407935.1:c.3745G>C
  • NM_001407936.1:c.3742G>C
  • NM_001407937.1:c.3886G>C
  • NM_001407938.1:c.3886G>C
  • NM_001407939.1:c.3886G>C
  • NM_001407940.1:c.3883G>C
  • NM_001407941.1:c.3883G>C
  • NM_001407942.1:c.3868G>C
  • NM_001407943.1:c.3865G>C
  • NM_001407944.1:c.3868G>C
  • NM_001407945.1:c.3868G>C
  • NM_001407946.1:c.3676G>C
  • NM_001407947.1:c.3676G>C
  • NM_001407948.1:c.3676G>C
  • NM_001407949.1:c.3676G>C
  • NM_001407950.1:c.3676G>C
  • NM_001407951.1:c.3676G>C
  • NM_001407952.1:c.3676G>C
  • NM_001407953.1:c.3676G>C
  • NM_001407954.1:c.3673G>C
  • NM_001407955.1:c.3673G>C
  • NM_001407956.1:c.3673G>C
  • NM_001407957.1:c.3676G>C
  • NM_001407958.1:c.3673G>C
  • NM_001407959.1:c.3628G>C
  • NM_001407960.1:c.3628G>C
  • NM_001407962.1:c.3625G>C
  • NM_001407963.1:c.3628G>C
  • NM_001407964.1:c.3865G>C
  • NM_001407965.1:c.3505G>C
  • NM_001407966.1:c.3121G>C
  • NM_001407967.1:c.3121G>C
  • NM_001407968.1:c.1405G>C
  • NM_001407969.1:c.1405G>C
  • NM_001407970.1:c.788-490G>C
  • NM_001407971.1:c.788-490G>C
  • NM_001407972.1:c.785-490G>C
  • NM_001407973.1:c.788-490G>C
  • NM_001407974.1:c.788-490G>C
  • NM_001407975.1:c.788-490G>C
  • NM_001407976.1:c.788-490G>C
  • NM_001407977.1:c.788-490G>C
  • NM_001407978.1:c.788-490G>C
  • NM_001407979.1:c.788-490G>C
  • NM_001407980.1:c.788-490G>C
  • NM_001407981.1:c.788-490G>C
  • NM_001407982.1:c.788-490G>C
  • NM_001407983.1:c.788-490G>C
  • NM_001407984.1:c.785-490G>C
  • NM_001407985.1:c.785-490G>C
  • NM_001407986.1:c.785-490G>C
  • NM_001407990.1:c.788-490G>C
  • NM_001407991.1:c.785-490G>C
  • NM_001407992.1:c.785-490G>C
  • NM_001407993.1:c.788-490G>C
  • NM_001408392.1:c.785-490G>C
  • NM_001408396.1:c.785-490G>C
  • NM_001408397.1:c.785-490G>C
  • NM_001408398.1:c.785-490G>C
  • NM_001408399.1:c.785-490G>C
  • NM_001408400.1:c.785-490G>C
  • NM_001408401.1:c.785-490G>C
  • NM_001408402.1:c.785-490G>C
  • NM_001408403.1:c.788-490G>C
  • NM_001408404.1:c.788-490G>C
  • NM_001408406.1:c.791-499G>C
  • NM_001408407.1:c.785-490G>C
  • NM_001408408.1:c.779-490G>C
  • NM_001408409.1:c.710-490G>C
  • NM_001408410.1:c.647-490G>C
  • NM_001408411.1:c.710-490G>C
  • NM_001408412.1:c.710-490G>C
  • NM_001408413.1:c.707-490G>C
  • NM_001408414.1:c.710-490G>C
  • NM_001408415.1:c.710-490G>C
  • NM_001408416.1:c.707-490G>C
  • NM_001408418.1:c.671-490G>C
  • NM_001408419.1:c.671-490G>C
  • NM_001408420.1:c.671-490G>C
  • NM_001408421.1:c.668-490G>C
  • NM_001408422.1:c.671-490G>C
  • NM_001408423.1:c.671-490G>C
  • NM_001408424.1:c.668-490G>C
  • NM_001408425.1:c.665-490G>C
  • NM_001408426.1:c.665-490G>C
  • NM_001408427.1:c.665-490G>C
  • NM_001408428.1:c.665-490G>C
  • NM_001408429.1:c.665-490G>C
  • NM_001408430.1:c.665-490G>C
  • NM_001408431.1:c.668-490G>C
  • NM_001408432.1:c.662-490G>C
  • NM_001408433.1:c.662-490G>C
  • NM_001408434.1:c.662-490G>C
  • NM_001408435.1:c.662-490G>C
  • NM_001408436.1:c.665-490G>C
  • NM_001408437.1:c.665-490G>C
  • NM_001408438.1:c.665-490G>C
  • NM_001408439.1:c.665-490G>C
  • NM_001408440.1:c.665-490G>C
  • NM_001408441.1:c.665-490G>C
  • NM_001408442.1:c.665-490G>C
  • NM_001408443.1:c.665-490G>C
  • NM_001408444.1:c.665-490G>C
  • NM_001408445.1:c.662-490G>C
  • NM_001408446.1:c.662-490G>C
  • NM_001408447.1:c.662-490G>C
  • NM_001408448.1:c.662-490G>C
  • NM_001408450.1:c.662-490G>C
  • NM_001408451.1:c.653-490G>C
  • NM_001408452.1:c.647-490G>C
  • NM_001408453.1:c.647-490G>C
  • NM_001408454.1:c.647-490G>C
  • NM_001408455.1:c.647-490G>C
  • NM_001408456.1:c.647-490G>C
  • NM_001408457.1:c.647-490G>C
  • NM_001408458.1:c.647-490G>C
  • NM_001408459.1:c.647-490G>C
  • NM_001408460.1:c.647-490G>C
  • NM_001408461.1:c.647-490G>C
  • NM_001408462.1:c.644-490G>C
  • NM_001408463.1:c.644-490G>C
  • NM_001408464.1:c.644-490G>C
  • NM_001408465.1:c.644-490G>C
  • NM_001408466.1:c.647-490G>C
  • NM_001408467.1:c.647-490G>C
  • NM_001408468.1:c.644-490G>C
  • NM_001408469.1:c.647-490G>C
  • NM_001408470.1:c.644-490G>C
  • NM_001408472.1:c.788-490G>C
  • NM_001408473.1:c.785-490G>C
  • NM_001408474.1:c.587-490G>C
  • NM_001408475.1:c.584-490G>C
  • NM_001408476.1:c.587-490G>C
  • NM_001408478.1:c.578-490G>C
  • NM_001408479.1:c.578-490G>C
  • NM_001408480.1:c.578-490G>C
  • NM_001408481.1:c.578-490G>C
  • NM_001408482.1:c.578-490G>C
  • NM_001408483.1:c.578-490G>C
  • NM_001408484.1:c.578-490G>C
  • NM_001408485.1:c.578-490G>C
  • NM_001408489.1:c.578-490G>C
  • NM_001408490.1:c.575-490G>C
  • NM_001408491.1:c.575-490G>C
  • NM_001408492.1:c.578-490G>C
  • NM_001408493.1:c.575-490G>C
  • NM_001408494.1:c.548-490G>C
  • NM_001408495.1:c.545-490G>C
  • NM_001408496.1:c.524-490G>C
  • NM_001408497.1:c.524-490G>C
  • NM_001408498.1:c.524-490G>C
  • NM_001408499.1:c.524-490G>C
  • NM_001408500.1:c.524-490G>C
  • NM_001408501.1:c.524-490G>C
  • NM_001408502.1:c.455-490G>C
  • NM_001408503.1:c.521-490G>C
  • NM_001408504.1:c.521-490G>C
  • NM_001408505.1:c.521-490G>C
  • NM_001408506.1:c.461-490G>C
  • NM_001408507.1:c.461-490G>C
  • NM_001408508.1:c.452-490G>C
  • NM_001408509.1:c.452-490G>C
  • NM_001408510.1:c.407-490G>C
  • NM_001408511.1:c.404-490G>C
  • NM_001408512.1:c.284-490G>C
  • NM_001408513.1:c.578-490G>C
  • NM_001408514.1:c.578-490G>C
  • NM_007294.4:c.4009G>CMANE SELECT
  • NM_007297.4:c.3868G>C
  • NM_007298.4:c.788-490G>C
  • NM_007299.4:c.788-490G>C
  • NM_007300.4:c.4009G>C
  • NP_001394500.1:p.Asp1266His
  • NP_001394510.1:p.Asp1337His
  • NP_001394511.1:p.Asp1337His
  • NP_001394512.1:p.Asp1337His
  • NP_001394514.1:p.Asp1337His
  • NP_001394516.1:p.Asp1336His
  • NP_001394519.1:p.Asp1336His
  • NP_001394520.1:p.Asp1336His
  • NP_001394522.1:p.Asp1337His
  • NP_001394523.1:p.Asp1337His
  • NP_001394525.1:p.Asp1337His
  • NP_001394526.1:p.Asp1337His
  • NP_001394527.1:p.Asp1337His
  • NP_001394531.1:p.Asp1337His
  • NP_001394532.1:p.Asp1337His
  • NP_001394534.1:p.Asp1337His
  • NP_001394539.1:p.Asp1336His
  • NP_001394540.1:p.Asp1336His
  • NP_001394541.1:p.Asp1336His
  • NP_001394542.1:p.Asp1336His
  • NP_001394543.1:p.Asp1336His
  • NP_001394544.1:p.Asp1336His
  • NP_001394545.1:p.Asp1337His
  • NP_001394546.1:p.Asp1337His
  • NP_001394547.1:p.Asp1337His
  • NP_001394548.1:p.Asp1337His
  • NP_001394549.1:p.Asp1337His
  • NP_001394550.1:p.Asp1337His
  • NP_001394551.1:p.Asp1337His
  • NP_001394552.1:p.Asp1337His
  • NP_001394553.1:p.Asp1337His
  • NP_001394554.1:p.Asp1337His
  • NP_001394555.1:p.Asp1337His
  • NP_001394556.1:p.Asp1336His
  • NP_001394557.1:p.Asp1336His
  • NP_001394558.1:p.Asp1336His
  • NP_001394559.1:p.Asp1336His
  • NP_001394560.1:p.Asp1336His
  • NP_001394561.1:p.Asp1336His
  • NP_001394562.1:p.Asp1336His
  • NP_001394563.1:p.Asp1336His
  • NP_001394564.1:p.Asp1336His
  • NP_001394565.1:p.Asp1336His
  • NP_001394566.1:p.Asp1336His
  • NP_001394567.1:p.Asp1336His
  • NP_001394568.1:p.Asp1337His
  • NP_001394569.1:p.Asp1337His
  • NP_001394570.1:p.Asp1337His
  • NP_001394571.1:p.Asp1337His
  • NP_001394573.1:p.Asp1336His
  • NP_001394574.1:p.Asp1336His
  • NP_001394575.1:p.Asp1334His
  • NP_001394576.1:p.Asp1334His
  • NP_001394577.1:p.Asp1296His
  • NP_001394578.1:p.Asp1295His
  • NP_001394581.1:p.Asp1337His
  • NP_001394582.1:p.Asp1311His
  • NP_001394583.1:p.Asp1311His
  • NP_001394584.1:p.Asp1311His
  • NP_001394585.1:p.Asp1311His
  • NP_001394586.1:p.Asp1311His
  • NP_001394587.1:p.Asp1311His
  • NP_001394588.1:p.Asp1310His
  • NP_001394589.1:p.Asp1310His
  • NP_001394590.1:p.Asp1310His
  • NP_001394591.1:p.Asp1310His
  • NP_001394592.1:p.Asp1311His
  • NP_001394593.1:p.Asp1296His
  • NP_001394594.1:p.Asp1296His
  • NP_001394595.1:p.Asp1296His
  • NP_001394596.1:p.Asp1296His
  • NP_001394597.1:p.Asp1296His
  • NP_001394598.1:p.Asp1296His
  • NP_001394599.1:p.Asp1295His
  • NP_001394600.1:p.Asp1295His
  • NP_001394601.1:p.Asp1295His
  • NP_001394602.1:p.Asp1295His
  • NP_001394603.1:p.Asp1296His
  • NP_001394604.1:p.Asp1296His
  • NP_001394605.1:p.Asp1296His
  • NP_001394606.1:p.Asp1296His
  • NP_001394607.1:p.Asp1296His
  • NP_001394608.1:p.Asp1296His
  • NP_001394609.1:p.Asp1296His
  • NP_001394610.1:p.Asp1296His
  • NP_001394611.1:p.Asp1296His
  • NP_001394612.1:p.Asp1296His
  • NP_001394613.1:p.Asp1337His
  • NP_001394614.1:p.Asp1295His
  • NP_001394615.1:p.Asp1295His
  • NP_001394616.1:p.Asp1295His
  • NP_001394617.1:p.Asp1295His
  • NP_001394618.1:p.Asp1295His
  • NP_001394619.1:p.Asp1295His
  • NP_001394620.1:p.Asp1295His
  • NP_001394621.1:p.Asp1290His
  • NP_001394623.1:p.Asp1290His
  • NP_001394624.1:p.Asp1290His
  • NP_001394625.1:p.Asp1290His
  • NP_001394626.1:p.Asp1290His
  • NP_001394627.1:p.Asp1290His
  • NP_001394653.1:p.Asp1290His
  • NP_001394654.1:p.Asp1290His
  • NP_001394655.1:p.Asp1290His
  • NP_001394656.1:p.Asp1290His
  • NP_001394657.1:p.Asp1290His
  • NP_001394658.1:p.Asp1290His
  • NP_001394659.1:p.Asp1290His
  • NP_001394660.1:p.Asp1290His
  • NP_001394661.1:p.Asp1290His
  • NP_001394662.1:p.Asp1290His
  • NP_001394663.1:p.Asp1290His
  • NP_001394664.1:p.Asp1290His
  • NP_001394665.1:p.Asp1290His
  • NP_001394666.1:p.Asp1290His
  • NP_001394667.1:p.Asp1290His
  • NP_001394668.1:p.Asp1290His
  • NP_001394669.1:p.Asp1289His
  • NP_001394670.1:p.Asp1289His
  • NP_001394671.1:p.Asp1289His
  • NP_001394672.1:p.Asp1289His
  • NP_001394673.1:p.Asp1289His
  • NP_001394674.1:p.Asp1289His
  • NP_001394675.1:p.Asp1289His
  • NP_001394676.1:p.Asp1289His
  • NP_001394677.1:p.Asp1289His
  • NP_001394678.1:p.Asp1289His
  • NP_001394679.1:p.Asp1290His
  • NP_001394680.1:p.Asp1290His
  • NP_001394681.1:p.Asp1290His
  • NP_001394767.1:p.Asp1289His
  • NP_001394768.1:p.Asp1289His
  • NP_001394770.1:p.Asp1289His
  • NP_001394771.1:p.Asp1289His
  • NP_001394772.1:p.Asp1289His
  • NP_001394773.1:p.Asp1289His
  • NP_001394774.1:p.Asp1289His
  • NP_001394775.1:p.Asp1289His
  • NP_001394776.1:p.Asp1289His
  • NP_001394777.1:p.Asp1289His
  • NP_001394778.1:p.Asp1289His
  • NP_001394779.1:p.Asp1290His
  • NP_001394780.1:p.Asp1290His
  • NP_001394781.1:p.Asp1290His
  • NP_001394782.1:p.Asp1266His
  • NP_001394783.1:p.Asp1337His
  • NP_001394787.1:p.Asp1337His
  • NP_001394788.1:p.Asp1337His
  • NP_001394789.1:p.Asp1336His
  • NP_001394790.1:p.Asp1336His
  • NP_001394791.1:p.Asp1270His
  • NP_001394792.1:p.Asp1296His
  • NP_001394803.1:p.Asp1269His
  • NP_001394804.1:p.Asp1269His
  • NP_001394808.1:p.Asp1267His
  • NP_001394810.1:p.Asp1267His
  • NP_001394811.1:p.Asp1267His
  • NP_001394813.1:p.Asp1267His
  • NP_001394814.1:p.Asp1267His
  • NP_001394815.1:p.Asp1267His
  • NP_001394816.1:p.Asp1267His
  • NP_001394818.1:p.Asp1267His
  • NP_001394823.1:p.Asp1266His
  • NP_001394824.1:p.Asp1266His
  • NP_001394825.1:p.Asp1266His
  • NP_001394826.1:p.Asp1266His
  • NP_001394827.1:p.Asp1266His
  • NP_001394828.1:p.Asp1266His
  • NP_001394829.1:p.Asp1267His
  • NP_001394831.1:p.Asp1267His
  • NP_001394833.1:p.Asp1267His
  • NP_001394835.1:p.Asp1267His
  • NP_001394836.1:p.Asp1267His
  • NP_001394837.1:p.Asp1267His
  • NP_001394838.1:p.Asp1267His
  • NP_001394839.1:p.Asp1267His
  • NP_001394844.1:p.Asp1266His
  • NP_001394845.1:p.Asp1266His
  • NP_001394846.1:p.Asp1266His
  • NP_001394847.1:p.Asp1266His
  • NP_001394848.1:p.Asp1296His
  • NP_001394849.1:p.Asp1249His
  • NP_001394850.1:p.Asp1249His
  • NP_001394851.1:p.Asp1249His
  • NP_001394852.1:p.Asp1249His
  • NP_001394853.1:p.Asp1249His
  • NP_001394854.1:p.Asp1249His
  • NP_001394855.1:p.Asp1249His
  • NP_001394856.1:p.Asp1249His
  • NP_001394857.1:p.Asp1249His
  • NP_001394858.1:p.Asp1249His
  • NP_001394859.1:p.Asp1248His
  • NP_001394860.1:p.Asp1248His
  • NP_001394861.1:p.Asp1248His
  • NP_001394862.1:p.Asp1249His
  • NP_001394863.1:p.Asp1248His
  • NP_001394864.1:p.Asp1249His
  • NP_001394865.1:p.Asp1248His
  • NP_001394866.1:p.Asp1296His
  • NP_001394867.1:p.Asp1296His
  • NP_001394868.1:p.Asp1296His
  • NP_001394869.1:p.Asp1295His
  • NP_001394870.1:p.Asp1295His
  • NP_001394871.1:p.Asp1290His
  • NP_001394872.1:p.Asp1289His
  • NP_001394873.1:p.Asp1290His
  • NP_001394874.1:p.Asp1290His
  • NP_001394875.1:p.Asp1226His
  • NP_001394876.1:p.Asp1226His
  • NP_001394877.1:p.Asp1226His
  • NP_001394878.1:p.Asp1226His
  • NP_001394879.1:p.Asp1226His
  • NP_001394880.1:p.Asp1226His
  • NP_001394881.1:p.Asp1226His
  • NP_001394882.1:p.Asp1226His
  • NP_001394883.1:p.Asp1225His
  • NP_001394884.1:p.Asp1225His
  • NP_001394885.1:p.Asp1225His
  • NP_001394886.1:p.Asp1226His
  • NP_001394887.1:p.Asp1225His
  • NP_001394888.1:p.Asp1210His
  • NP_001394889.1:p.Asp1210His
  • NP_001394891.1:p.Asp1209His
  • NP_001394892.1:p.Asp1210His
  • NP_001394893.1:p.Asp1289His
  • NP_001394894.1:p.Asp1169His
  • NP_001394895.1:p.Asp1041His
  • NP_001394896.1:p.Asp1041His
  • NP_001394897.1:p.Asp469His
  • NP_001394898.1:p.Asp469His
  • NP_009225.1:p.Asp1337His
  • NP_009225.1:p.Asp1337His
  • NP_009228.2:p.Asp1290His
  • NP_009231.2:p.Asp1337His
  • LRG_292t1:c.4009G>C
  • LRG_292:g.126462G>C
  • LRG_292p1:p.Asp1337His
  • NC_000017.10:g.41243539C>G
  • NM_007294.3:c.4009G>C
  • NR_027676.1:n.4145G>C
Protein change:
D1041H
Links:
dbSNP: rs886041144
NCBI 1000 Genomes Browser:
rs886041144
Molecular consequence:
  • NM_001407970.1:c.788-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.788-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.785-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.788-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.788-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.788-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.788-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.788-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.788-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.788-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.788-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.788-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.788-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.788-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.785-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.785-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.785-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.788-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.785-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.785-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.788-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.785-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.785-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.785-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.785-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.785-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.785-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.785-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.785-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.788-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.788-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.791-499G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.785-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.779-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.710-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.647-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.710-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.710-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.707-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.710-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.710-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.707-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.665-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.665-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.665-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.665-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.665-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.665-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.662-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.662-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.662-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.662-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.665-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.665-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.665-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.665-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.665-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.665-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.665-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.665-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.665-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.662-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.662-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.662-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.662-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.662-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.653-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.647-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.647-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.647-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.647-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.647-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.647-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.647-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.647-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.647-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.647-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.644-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.644-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.644-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.644-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.647-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.647-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.644-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.647-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.644-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.788-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.785-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.587-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.584-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.587-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.578-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.578-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.578-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.578-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.578-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.578-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.578-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.578-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.578-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.575-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.575-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.578-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.575-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.524-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.524-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.524-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.524-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.524-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.524-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.455-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.521-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.521-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.521-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.452-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.452-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.407-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.284-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.578-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.578-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.788-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.788-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.3796G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.4009G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.4009G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.4009G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.4009G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.4006G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.4006G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.4006G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.4009G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.4009G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.4009G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.4009G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.4009G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.4009G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.4009G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.4009G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.4006G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.4006G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.4006G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.4006G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.4006G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.4006G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.4009G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.4009G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.4009G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.4009G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.4009G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.4009G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.4009G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.4009G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.4009G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.4009G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.4009G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.4006G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.4006G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.4006G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.4006G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.4006G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.4006G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.4006G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.4006G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.4006G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.4006G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.4006G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.4006G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.4009G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.4009G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.4009G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.4009G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.4006G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.4006G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.4000G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.4000G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.3886G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.3883G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.4009G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.3931G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.3931G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.3931G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.3931G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.3931G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.3931G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.3928G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.3928G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.3928G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.3928G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.3931G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.3886G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.3886G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.3886G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.3886G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.3886G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.3886G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.3883G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.3883G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.3883G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.3883G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.3886G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.3886G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.3886G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.3886G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.3886G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.3886G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.3886G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.3886G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.3886G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.3886G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.4009G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.3883G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.3883G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.3883G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.3883G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.3883G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.3883G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.3883G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.3868G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.3868G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.3868G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.3868G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.3868G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.3868G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.3868G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.3868G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.3868G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.3868G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.3868G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.3868G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.3868G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.3868G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.3868G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.3868G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.3868G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.3868G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.3868G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.3868G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.3868G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.3868G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.3865G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.3865G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.3865G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.3865G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.3865G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.3865G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.3865G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.3865G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.3865G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.3865G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.3868G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.3868G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.3868G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.3865G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.3865G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.3865G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.3865G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.3865G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.3865G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.3865G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.3865G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.3865G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.3865G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.3865G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.3868G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.3868G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.3868G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.3796G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.4009G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.4009G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.4009G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.4006G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.4006G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.3808G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.3886G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.3805G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.3805G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.3799G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.3799G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.3799G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.3799G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.3799G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.3799G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.3799G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.3799G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.3796G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.3796G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.3796G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.3796G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.3796G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.3796G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.3799G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.3799G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.3799G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.3799G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.3799G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.3799G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.3799G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.3799G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.3796G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.3796G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.3796G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.3796G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.3886G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.3745G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.3745G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.3745G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.3745G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.3745G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.3745G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.3745G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.3745G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.3745G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.3745G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.3742G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.3742G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.3742G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.3745G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.3742G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.3745G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.3742G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.3886G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.3886G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.3886G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.3883G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.3883G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.3868G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.3865G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.3868G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.3868G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.3676G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.3676G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.3676G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.3676G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.3676G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.3676G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.3676G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.3676G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.3673G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.3673G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.3673G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.3676G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.3673G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.3628G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.3628G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.3625G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.3628G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.3865G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.3505G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.3121G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.3121G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.1405G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.1405G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.4009G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.3868G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.4009G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000329128GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Sep 13, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000329128.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is denoted BRCA1 c.4009G>C at the cDNA level, p.Asp1337His (D1337H) at the protein level, and results in the change of an Aspartic Acid to a Histidine (GAC>CAC). Using alternate nomenclature, this variant would be defined as BRCA1 4128G>C. BRCA1 Asp1337His has been observed in at least one individual with a history of breast cancer (Bolognesi 2014). This variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. Since Aspartic Acid and Histidine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. BRCA1 Asp1337His occurs at a position that is not conserved and is located within the SCD domain and a region known to interact with multiple proteins (Narod 2004, Clark 2012, Chen 1998). In silico analyses are inconsistent regarding the effect this variant may have on protein structure and function. Based on currently available information, it is unclear whether BRCA1 Asp1337His is pathogenic or benign. We consider it to be a variant of uncertain significance.

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

Last Updated: Sep 29, 2024