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NM_007294.4(BRCA1):c.3012G>A (p.Glu1004=) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:
Likely benign (2 submissions)
Last evaluated:
Jun 29, 2017
Review status:
3 stars out of maximum of 4 stars
reviewed by expert panel
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:
RCV000494859.5

Allele description [Variation Report for NM_007294.4(BRCA1):c.3012G>A (p.Glu1004=)]

NM_007294.4(BRCA1):c.3012G>A (p.Glu1004=)

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.3012G>A (p.Glu1004=)
HGVS:
  • NC_000017.11:g.43092519C>T
  • NG_005905.2:g.125465G>A
  • NM_001407571.1:c.2799G>A
  • NM_001407581.1:c.3012G>A
  • NM_001407582.1:c.3012G>A
  • NM_001407583.1:c.3012G>A
  • NM_001407585.1:c.3012G>A
  • NM_001407587.1:c.3009G>A
  • NM_001407590.1:c.3009G>A
  • NM_001407591.1:c.3009G>A
  • NM_001407593.1:c.3012G>A
  • NM_001407594.1:c.3012G>A
  • NM_001407596.1:c.3012G>A
  • NM_001407597.1:c.3012G>A
  • NM_001407598.1:c.3012G>A
  • NM_001407602.1:c.3012G>A
  • NM_001407603.1:c.3012G>A
  • NM_001407605.1:c.3012G>A
  • NM_001407610.1:c.3009G>A
  • NM_001407611.1:c.3009G>A
  • NM_001407612.1:c.3009G>A
  • NM_001407613.1:c.3009G>A
  • NM_001407614.1:c.3009G>A
  • NM_001407615.1:c.3009G>A
  • NM_001407616.1:c.3012G>A
  • NM_001407617.1:c.3012G>A
  • NM_001407618.1:c.3012G>A
  • NM_001407619.1:c.3012G>A
  • NM_001407620.1:c.3012G>A
  • NM_001407621.1:c.3012G>A
  • NM_001407622.1:c.3012G>A
  • NM_001407623.1:c.3012G>A
  • NM_001407624.1:c.3012G>A
  • NM_001407625.1:c.3012G>A
  • NM_001407626.1:c.3012G>A
  • NM_001407627.1:c.3009G>A
  • NM_001407628.1:c.3009G>A
  • NM_001407629.1:c.3009G>A
  • NM_001407630.1:c.3009G>A
  • NM_001407631.1:c.3009G>A
  • NM_001407632.1:c.3009G>A
  • NM_001407633.1:c.3009G>A
  • NM_001407634.1:c.3009G>A
  • NM_001407635.1:c.3009G>A
  • NM_001407636.1:c.3009G>A
  • NM_001407637.1:c.3009G>A
  • NM_001407638.1:c.3009G>A
  • NM_001407639.1:c.3012G>A
  • NM_001407640.1:c.3012G>A
  • NM_001407641.1:c.3012G>A
  • NM_001407642.1:c.3012G>A
  • NM_001407644.1:c.3009G>A
  • NM_001407645.1:c.3009G>A
  • NM_001407646.1:c.3003G>A
  • NM_001407647.1:c.3003G>A
  • NM_001407648.1:c.2889G>A
  • NM_001407649.1:c.2886G>A
  • NM_001407652.1:c.3012G>A
  • NM_001407653.1:c.2934G>A
  • NM_001407654.1:c.2934G>A
  • NM_001407655.1:c.2934G>A
  • NM_001407656.1:c.2934G>A
  • NM_001407657.1:c.2934G>A
  • NM_001407658.1:c.2934G>A
  • NM_001407659.1:c.2931G>A
  • NM_001407660.1:c.2931G>A
  • NM_001407661.1:c.2931G>A
  • NM_001407662.1:c.2931G>A
  • NM_001407663.1:c.2934G>A
  • NM_001407664.1:c.2889G>A
  • NM_001407665.1:c.2889G>A
  • NM_001407666.1:c.2889G>A
  • NM_001407667.1:c.2889G>A
  • NM_001407668.1:c.2889G>A
  • NM_001407669.1:c.2889G>A
  • NM_001407670.1:c.2886G>A
  • NM_001407671.1:c.2886G>A
  • NM_001407672.1:c.2886G>A
  • NM_001407673.1:c.2886G>A
  • NM_001407674.1:c.2889G>A
  • NM_001407675.1:c.2889G>A
  • NM_001407676.1:c.2889G>A
  • NM_001407677.1:c.2889G>A
  • NM_001407678.1:c.2889G>A
  • NM_001407679.1:c.2889G>A
  • NM_001407680.1:c.2889G>A
  • NM_001407681.1:c.2889G>A
  • NM_001407682.1:c.2889G>A
  • NM_001407683.1:c.2889G>A
  • NM_001407684.1:c.3012G>A
  • NM_001407685.1:c.2886G>A
  • NM_001407686.1:c.2886G>A
  • NM_001407687.1:c.2886G>A
  • NM_001407688.1:c.2886G>A
  • NM_001407689.1:c.2886G>A
  • NM_001407690.1:c.2886G>A
  • NM_001407691.1:c.2886G>A
  • NM_001407692.1:c.2871G>A
  • NM_001407694.1:c.2871G>A
  • NM_001407695.1:c.2871G>A
  • NM_001407696.1:c.2871G>A
  • NM_001407697.1:c.2871G>A
  • NM_001407698.1:c.2871G>A
  • NM_001407724.1:c.2871G>A
  • NM_001407725.1:c.2871G>A
  • NM_001407726.1:c.2871G>A
  • NM_001407727.1:c.2871G>A
  • NM_001407728.1:c.2871G>A
  • NM_001407729.1:c.2871G>A
  • NM_001407730.1:c.2871G>A
  • NM_001407731.1:c.2871G>A
  • NM_001407732.1:c.2871G>A
  • NM_001407733.1:c.2871G>A
  • NM_001407734.1:c.2871G>A
  • NM_001407735.1:c.2871G>A
  • NM_001407736.1:c.2871G>A
  • NM_001407737.1:c.2871G>A
  • NM_001407738.1:c.2871G>A
  • NM_001407739.1:c.2871G>A
  • NM_001407740.1:c.2868G>A
  • NM_001407741.1:c.2868G>A
  • NM_001407742.1:c.2868G>A
  • NM_001407743.1:c.2868G>A
  • NM_001407744.1:c.2868G>A
  • NM_001407745.1:c.2868G>A
  • NM_001407746.1:c.2868G>A
  • NM_001407747.1:c.2868G>A
  • NM_001407748.1:c.2868G>A
  • NM_001407749.1:c.2868G>A
  • NM_001407750.1:c.2871G>A
  • NM_001407751.1:c.2871G>A
  • NM_001407752.1:c.2871G>A
  • NM_001407838.1:c.2868G>A
  • NM_001407839.1:c.2868G>A
  • NM_001407841.1:c.2868G>A
  • NM_001407842.1:c.2868G>A
  • NM_001407843.1:c.2868G>A
  • NM_001407844.1:c.2868G>A
  • NM_001407845.1:c.2868G>A
  • NM_001407846.1:c.2868G>A
  • NM_001407847.1:c.2868G>A
  • NM_001407848.1:c.2868G>A
  • NM_001407849.1:c.2868G>A
  • NM_001407850.1:c.2871G>A
  • NM_001407851.1:c.2871G>A
  • NM_001407852.1:c.2871G>A
  • NM_001407853.1:c.2799G>A
  • NM_001407854.1:c.3012G>A
  • NM_001407858.1:c.3012G>A
  • NM_001407859.1:c.3012G>A
  • NM_001407860.1:c.3009G>A
  • NM_001407861.1:c.3009G>A
  • NM_001407862.1:c.2811G>A
  • NM_001407863.1:c.2889G>A
  • NM_001407874.1:c.2808G>A
  • NM_001407875.1:c.2808G>A
  • NM_001407879.1:c.2802G>A
  • NM_001407881.1:c.2802G>A
  • NM_001407882.1:c.2802G>A
  • NM_001407884.1:c.2802G>A
  • NM_001407885.1:c.2802G>A
  • NM_001407886.1:c.2802G>A
  • NM_001407887.1:c.2802G>A
  • NM_001407889.1:c.2802G>A
  • NM_001407894.1:c.2799G>A
  • NM_001407895.1:c.2799G>A
  • NM_001407896.1:c.2799G>A
  • NM_001407897.1:c.2799G>A
  • NM_001407898.1:c.2799G>A
  • NM_001407899.1:c.2799G>A
  • NM_001407900.1:c.2802G>A
  • NM_001407902.1:c.2802G>A
  • NM_001407904.1:c.2802G>A
  • NM_001407906.1:c.2802G>A
  • NM_001407907.1:c.2802G>A
  • NM_001407908.1:c.2802G>A
  • NM_001407909.1:c.2802G>A
  • NM_001407910.1:c.2802G>A
  • NM_001407915.1:c.2799G>A
  • NM_001407916.1:c.2799G>A
  • NM_001407917.1:c.2799G>A
  • NM_001407918.1:c.2799G>A
  • NM_001407919.1:c.2889G>A
  • NM_001407920.1:c.2748G>A
  • NM_001407921.1:c.2748G>A
  • NM_001407922.1:c.2748G>A
  • NM_001407923.1:c.2748G>A
  • NM_001407924.1:c.2748G>A
  • NM_001407925.1:c.2748G>A
  • NM_001407926.1:c.2748G>A
  • NM_001407927.1:c.2748G>A
  • NM_001407928.1:c.2748G>A
  • NM_001407929.1:c.2748G>A
  • NM_001407930.1:c.2745G>A
  • NM_001407931.1:c.2745G>A
  • NM_001407932.1:c.2745G>A
  • NM_001407933.1:c.2748G>A
  • NM_001407934.1:c.2745G>A
  • NM_001407935.1:c.2748G>A
  • NM_001407936.1:c.2745G>A
  • NM_001407937.1:c.2889G>A
  • NM_001407938.1:c.2889G>A
  • NM_001407939.1:c.2889G>A
  • NM_001407940.1:c.2886G>A
  • NM_001407941.1:c.2886G>A
  • NM_001407942.1:c.2871G>A
  • NM_001407943.1:c.2868G>A
  • NM_001407944.1:c.2871G>A
  • NM_001407945.1:c.2871G>A
  • NM_001407946.1:c.2679G>A
  • NM_001407947.1:c.2679G>A
  • NM_001407948.1:c.2679G>A
  • NM_001407949.1:c.2679G>A
  • NM_001407950.1:c.2679G>A
  • NM_001407951.1:c.2679G>A
  • NM_001407952.1:c.2679G>A
  • NM_001407953.1:c.2679G>A
  • NM_001407954.1:c.2676G>A
  • NM_001407955.1:c.2676G>A
  • NM_001407956.1:c.2676G>A
  • NM_001407957.1:c.2679G>A
  • NM_001407958.1:c.2676G>A
  • NM_001407959.1:c.2631G>A
  • NM_001407960.1:c.2631G>A
  • NM_001407962.1:c.2628G>A
  • NM_001407963.1:c.2631G>A
  • NM_001407964.1:c.2868G>A
  • NM_001407965.1:c.2508G>A
  • NM_001407966.1:c.2124G>A
  • NM_001407967.1:c.2124G>A
  • NM_001407968.1:c.788-380G>A
  • NM_001407969.1:c.788-380G>A
  • NM_001407970.1:c.788-1487G>A
  • NM_001407971.1:c.788-1487G>A
  • NM_001407972.1:c.785-1487G>A
  • NM_001407973.1:c.788-1487G>A
  • NM_001407974.1:c.788-1487G>A
  • NM_001407975.1:c.788-1487G>A
  • NM_001407976.1:c.788-1487G>A
  • NM_001407977.1:c.788-1487G>A
  • NM_001407978.1:c.788-1487G>A
  • NM_001407979.1:c.788-1487G>A
  • NM_001407980.1:c.788-1487G>A
  • NM_001407981.1:c.788-1487G>A
  • NM_001407982.1:c.788-1487G>A
  • NM_001407983.1:c.788-1487G>A
  • NM_001407984.1:c.785-1487G>A
  • NM_001407985.1:c.785-1487G>A
  • NM_001407986.1:c.785-1487G>A
  • NM_001407990.1:c.788-1487G>A
  • NM_001407991.1:c.785-1487G>A
  • NM_001407992.1:c.785-1487G>A
  • NM_001407993.1:c.788-1487G>A
  • NM_001408392.1:c.785-1487G>A
  • NM_001408396.1:c.785-1487G>A
  • NM_001408397.1:c.785-1487G>A
  • NM_001408398.1:c.785-1487G>A
  • NM_001408399.1:c.785-1487G>A
  • NM_001408400.1:c.785-1487G>A
  • NM_001408401.1:c.785-1487G>A
  • NM_001408402.1:c.785-1487G>A
  • NM_001408403.1:c.788-1487G>A
  • NM_001408404.1:c.788-1487G>A
  • NM_001408406.1:c.791-1496G>A
  • NM_001408407.1:c.785-1487G>A
  • NM_001408408.1:c.779-1487G>A
  • NM_001408409.1:c.710-1487G>A
  • NM_001408410.1:c.647-1487G>A
  • NM_001408411.1:c.710-1487G>A
  • NM_001408412.1:c.710-1487G>A
  • NM_001408413.1:c.707-1487G>A
  • NM_001408414.1:c.710-1487G>A
  • NM_001408415.1:c.710-1487G>A
  • NM_001408416.1:c.707-1487G>A
  • NM_001408418.1:c.671-1487G>A
  • NM_001408419.1:c.671-1487G>A
  • NM_001408420.1:c.671-1487G>A
  • NM_001408421.1:c.668-1487G>A
  • NM_001408422.1:c.671-1487G>A
  • NM_001408423.1:c.671-1487G>A
  • NM_001408424.1:c.668-1487G>A
  • NM_001408425.1:c.665-1487G>A
  • NM_001408426.1:c.665-1487G>A
  • NM_001408427.1:c.665-1487G>A
  • NM_001408428.1:c.665-1487G>A
  • NM_001408429.1:c.665-1487G>A
  • NM_001408430.1:c.665-1487G>A
  • NM_001408431.1:c.668-1487G>A
  • NM_001408432.1:c.662-1487G>A
  • NM_001408433.1:c.662-1487G>A
  • NM_001408434.1:c.662-1487G>A
  • NM_001408435.1:c.662-1487G>A
  • NM_001408436.1:c.665-1487G>A
  • NM_001408437.1:c.665-1487G>A
  • NM_001408438.1:c.665-1487G>A
  • NM_001408439.1:c.665-1487G>A
  • NM_001408440.1:c.665-1487G>A
  • NM_001408441.1:c.665-1487G>A
  • NM_001408442.1:c.665-1487G>A
  • NM_001408443.1:c.665-1487G>A
  • NM_001408444.1:c.665-1487G>A
  • NM_001408445.1:c.662-1487G>A
  • NM_001408446.1:c.662-1487G>A
  • NM_001408447.1:c.662-1487G>A
  • NM_001408448.1:c.662-1487G>A
  • NM_001408450.1:c.662-1487G>A
  • NM_001408451.1:c.653-1487G>A
  • NM_001408452.1:c.647-1487G>A
  • NM_001408453.1:c.647-1487G>A
  • NM_001408454.1:c.647-1487G>A
  • NM_001408455.1:c.647-1487G>A
  • NM_001408456.1:c.647-1487G>A
  • NM_001408457.1:c.647-1487G>A
  • NM_001408458.1:c.647-1487G>A
  • NM_001408459.1:c.647-1487G>A
  • NM_001408460.1:c.647-1487G>A
  • NM_001408461.1:c.647-1487G>A
  • NM_001408462.1:c.644-1487G>A
  • NM_001408463.1:c.644-1487G>A
  • NM_001408464.1:c.644-1487G>A
  • NM_001408465.1:c.644-1487G>A
  • NM_001408466.1:c.647-1487G>A
  • NM_001408467.1:c.647-1487G>A
  • NM_001408468.1:c.644-1487G>A
  • NM_001408469.1:c.647-1487G>A
  • NM_001408470.1:c.644-1487G>A
  • NM_001408472.1:c.788-1487G>A
  • NM_001408473.1:c.785-1487G>A
  • NM_001408474.1:c.587-1487G>A
  • NM_001408475.1:c.584-1487G>A
  • NM_001408476.1:c.587-1487G>A
  • NM_001408478.1:c.578-1487G>A
  • NM_001408479.1:c.578-1487G>A
  • NM_001408480.1:c.578-1487G>A
  • NM_001408481.1:c.578-1487G>A
  • NM_001408482.1:c.578-1487G>A
  • NM_001408483.1:c.578-1487G>A
  • NM_001408484.1:c.578-1487G>A
  • NM_001408485.1:c.578-1487G>A
  • NM_001408489.1:c.578-1487G>A
  • NM_001408490.1:c.575-1487G>A
  • NM_001408491.1:c.575-1487G>A
  • NM_001408492.1:c.578-1487G>A
  • NM_001408493.1:c.575-1487G>A
  • NM_001408494.1:c.548-1487G>A
  • NM_001408495.1:c.545-1487G>A
  • NM_001408496.1:c.524-1487G>A
  • NM_001408497.1:c.524-1487G>A
  • NM_001408498.1:c.524-1487G>A
  • NM_001408499.1:c.524-1487G>A
  • NM_001408500.1:c.524-1487G>A
  • NM_001408501.1:c.524-1487G>A
  • NM_001408502.1:c.455-1487G>A
  • NM_001408503.1:c.521-1487G>A
  • NM_001408504.1:c.521-1487G>A
  • NM_001408505.1:c.521-1487G>A
  • NM_001408506.1:c.461-1487G>A
  • NM_001408507.1:c.461-1487G>A
  • NM_001408508.1:c.452-1487G>A
  • NM_001408509.1:c.452-1487G>A
  • NM_001408510.1:c.407-1487G>A
  • NM_001408511.1:c.404-1487G>A
  • NM_001408512.1:c.284-1487G>A
  • NM_001408513.1:c.578-1487G>A
  • NM_001408514.1:c.578-1487G>A
  • NM_007294.4:c.3012G>AMANE SELECT
  • NM_007297.4:c.2871G>A
  • NM_007298.4:c.788-1487G>A
  • NM_007299.4:c.788-1487G>A
  • NM_007300.4:c.3012G>A
  • NP_001394500.1:p.Glu933=
  • NP_001394510.1:p.Glu1004=
  • NP_001394511.1:p.Glu1004=
  • NP_001394512.1:p.Glu1004=
  • NP_001394514.1:p.Glu1004=
  • NP_001394516.1:p.Glu1003=
  • NP_001394519.1:p.Glu1003=
  • NP_001394520.1:p.Glu1003=
  • NP_001394522.1:p.Glu1004=
  • NP_001394523.1:p.Glu1004=
  • NP_001394525.1:p.Glu1004=
  • NP_001394526.1:p.Glu1004=
  • NP_001394527.1:p.Glu1004=
  • NP_001394531.1:p.Glu1004=
  • NP_001394532.1:p.Glu1004=
  • NP_001394534.1:p.Glu1004=
  • NP_001394539.1:p.Glu1003=
  • NP_001394540.1:p.Glu1003=
  • NP_001394541.1:p.Glu1003=
  • NP_001394542.1:p.Glu1003=
  • NP_001394543.1:p.Glu1003=
  • NP_001394544.1:p.Glu1003=
  • NP_001394545.1:p.Glu1004=
  • NP_001394546.1:p.Glu1004=
  • NP_001394547.1:p.Glu1004=
  • NP_001394548.1:p.Glu1004=
  • NP_001394549.1:p.Glu1004=
  • NP_001394550.1:p.Glu1004=
  • NP_001394551.1:p.Glu1004=
  • NP_001394552.1:p.Glu1004=
  • NP_001394553.1:p.Glu1004=
  • NP_001394554.1:p.Glu1004=
  • NP_001394555.1:p.Glu1004=
  • NP_001394556.1:p.Glu1003=
  • NP_001394557.1:p.Glu1003=
  • NP_001394558.1:p.Glu1003=
  • NP_001394559.1:p.Glu1003=
  • NP_001394560.1:p.Glu1003=
  • NP_001394561.1:p.Glu1003=
  • NP_001394562.1:p.Glu1003=
  • NP_001394563.1:p.Glu1003=
  • NP_001394564.1:p.Glu1003=
  • NP_001394565.1:p.Glu1003=
  • NP_001394566.1:p.Glu1003=
  • NP_001394567.1:p.Glu1003=
  • NP_001394568.1:p.Glu1004=
  • NP_001394569.1:p.Glu1004=
  • NP_001394570.1:p.Glu1004=
  • NP_001394571.1:p.Glu1004=
  • NP_001394573.1:p.Glu1003=
  • NP_001394574.1:p.Glu1003=
  • NP_001394575.1:p.Glu1001=
  • NP_001394576.1:p.Glu1001=
  • NP_001394577.1:p.Glu963=
  • NP_001394578.1:p.Glu962=
  • NP_001394581.1:p.Glu1004=
  • NP_001394582.1:p.Glu978=
  • NP_001394583.1:p.Glu978=
  • NP_001394584.1:p.Glu978=
  • NP_001394585.1:p.Glu978=
  • NP_001394586.1:p.Glu978=
  • NP_001394587.1:p.Glu978=
  • NP_001394588.1:p.Glu977=
  • NP_001394589.1:p.Glu977=
  • NP_001394590.1:p.Glu977=
  • NP_001394591.1:p.Glu977=
  • NP_001394592.1:p.Glu978=
  • NP_001394593.1:p.Glu963=
  • NP_001394594.1:p.Glu963=
  • NP_001394595.1:p.Glu963=
  • NP_001394596.1:p.Glu963=
  • NP_001394597.1:p.Glu963=
  • NP_001394598.1:p.Glu963=
  • NP_001394599.1:p.Glu962=
  • NP_001394600.1:p.Glu962=
  • NP_001394601.1:p.Glu962=
  • NP_001394602.1:p.Glu962=
  • NP_001394603.1:p.Glu963=
  • NP_001394604.1:p.Glu963=
  • NP_001394605.1:p.Glu963=
  • NP_001394606.1:p.Glu963=
  • NP_001394607.1:p.Glu963=
  • NP_001394608.1:p.Glu963=
  • NP_001394609.1:p.Glu963=
  • NP_001394610.1:p.Glu963=
  • NP_001394611.1:p.Glu963=
  • NP_001394612.1:p.Glu963=
  • NP_001394613.1:p.Glu1004=
  • NP_001394614.1:p.Glu962=
  • NP_001394615.1:p.Glu962=
  • NP_001394616.1:p.Glu962=
  • NP_001394617.1:p.Glu962=
  • NP_001394618.1:p.Glu962=
  • NP_001394619.1:p.Glu962=
  • NP_001394620.1:p.Glu962=
  • NP_001394621.1:p.Glu957=
  • NP_001394623.1:p.Glu957=
  • NP_001394624.1:p.Glu957=
  • NP_001394625.1:p.Glu957=
  • NP_001394626.1:p.Glu957=
  • NP_001394627.1:p.Glu957=
  • NP_001394653.1:p.Glu957=
  • NP_001394654.1:p.Glu957=
  • NP_001394655.1:p.Glu957=
  • NP_001394656.1:p.Glu957=
  • NP_001394657.1:p.Glu957=
  • NP_001394658.1:p.Glu957=
  • NP_001394659.1:p.Glu957=
  • NP_001394660.1:p.Glu957=
  • NP_001394661.1:p.Glu957=
  • NP_001394662.1:p.Glu957=
  • NP_001394663.1:p.Glu957=
  • NP_001394664.1:p.Glu957=
  • NP_001394665.1:p.Glu957=
  • NP_001394666.1:p.Glu957=
  • NP_001394667.1:p.Glu957=
  • NP_001394668.1:p.Glu957=
  • NP_001394669.1:p.Glu956=
  • NP_001394670.1:p.Glu956=
  • NP_001394671.1:p.Glu956=
  • NP_001394672.1:p.Glu956=
  • NP_001394673.1:p.Glu956=
  • NP_001394674.1:p.Glu956=
  • NP_001394675.1:p.Glu956=
  • NP_001394676.1:p.Glu956=
  • NP_001394677.1:p.Glu956=
  • NP_001394678.1:p.Glu956=
  • NP_001394679.1:p.Glu957=
  • NP_001394680.1:p.Glu957=
  • NP_001394681.1:p.Glu957=
  • NP_001394767.1:p.Glu956=
  • NP_001394768.1:p.Glu956=
  • NP_001394770.1:p.Glu956=
  • NP_001394771.1:p.Glu956=
  • NP_001394772.1:p.Glu956=
  • NP_001394773.1:p.Glu956=
  • NP_001394774.1:p.Glu956=
  • NP_001394775.1:p.Glu956=
  • NP_001394776.1:p.Glu956=
  • NP_001394777.1:p.Glu956=
  • NP_001394778.1:p.Glu956=
  • NP_001394779.1:p.Glu957=
  • NP_001394780.1:p.Glu957=
  • NP_001394781.1:p.Glu957=
  • NP_001394782.1:p.Glu933=
  • NP_001394783.1:p.Glu1004=
  • NP_001394787.1:p.Glu1004=
  • NP_001394788.1:p.Glu1004=
  • NP_001394789.1:p.Glu1003=
  • NP_001394790.1:p.Glu1003=
  • NP_001394791.1:p.Glu937=
  • NP_001394792.1:p.Glu963=
  • NP_001394803.1:p.Glu936=
  • NP_001394804.1:p.Glu936=
  • NP_001394808.1:p.Glu934=
  • NP_001394810.1:p.Glu934=
  • NP_001394811.1:p.Glu934=
  • NP_001394813.1:p.Glu934=
  • NP_001394814.1:p.Glu934=
  • NP_001394815.1:p.Glu934=
  • NP_001394816.1:p.Glu934=
  • NP_001394818.1:p.Glu934=
  • NP_001394823.1:p.Glu933=
  • NP_001394824.1:p.Glu933=
  • NP_001394825.1:p.Glu933=
  • NP_001394826.1:p.Glu933=
  • NP_001394827.1:p.Glu933=
  • NP_001394828.1:p.Glu933=
  • NP_001394829.1:p.Glu934=
  • NP_001394831.1:p.Glu934=
  • NP_001394833.1:p.Glu934=
  • NP_001394835.1:p.Glu934=
  • NP_001394836.1:p.Glu934=
  • NP_001394837.1:p.Glu934=
  • NP_001394838.1:p.Glu934=
  • NP_001394839.1:p.Glu934=
  • NP_001394844.1:p.Glu933=
  • NP_001394845.1:p.Glu933=
  • NP_001394846.1:p.Glu933=
  • NP_001394847.1:p.Glu933=
  • NP_001394848.1:p.Glu963=
  • NP_001394849.1:p.Glu916=
  • NP_001394850.1:p.Glu916=
  • NP_001394851.1:p.Glu916=
  • NP_001394852.1:p.Glu916=
  • NP_001394853.1:p.Glu916=
  • NP_001394854.1:p.Glu916=
  • NP_001394855.1:p.Glu916=
  • NP_001394856.1:p.Glu916=
  • NP_001394857.1:p.Glu916=
  • NP_001394858.1:p.Glu916=
  • NP_001394859.1:p.Glu915=
  • NP_001394860.1:p.Glu915=
  • NP_001394861.1:p.Glu915=
  • NP_001394862.1:p.Glu916=
  • NP_001394863.1:p.Glu915=
  • NP_001394864.1:p.Glu916=
  • NP_001394865.1:p.Glu915=
  • NP_001394866.1:p.Glu963=
  • NP_001394867.1:p.Glu963=
  • NP_001394868.1:p.Glu963=
  • NP_001394869.1:p.Glu962=
  • NP_001394870.1:p.Glu962=
  • NP_001394871.1:p.Glu957=
  • NP_001394872.1:p.Glu956=
  • NP_001394873.1:p.Glu957=
  • NP_001394874.1:p.Glu957=
  • NP_001394875.1:p.Glu893=
  • NP_001394876.1:p.Glu893=
  • NP_001394877.1:p.Glu893=
  • NP_001394878.1:p.Glu893=
  • NP_001394879.1:p.Glu893=
  • NP_001394880.1:p.Glu893=
  • NP_001394881.1:p.Glu893=
  • NP_001394882.1:p.Glu893=
  • NP_001394883.1:p.Glu892=
  • NP_001394884.1:p.Glu892=
  • NP_001394885.1:p.Glu892=
  • NP_001394886.1:p.Glu893=
  • NP_001394887.1:p.Glu892=
  • NP_001394888.1:p.Glu877=
  • NP_001394889.1:p.Glu877=
  • NP_001394891.1:p.Glu876=
  • NP_001394892.1:p.Glu877=
  • NP_001394893.1:p.Glu956=
  • NP_001394894.1:p.Glu836=
  • NP_001394895.1:p.Glu708=
  • NP_001394896.1:p.Glu708=
  • NP_009225.1:p.Glu1004=
  • NP_009225.1:p.Glu1004=
  • NP_009228.2:p.Glu957=
  • NP_009231.2:p.Glu1004=
  • LRG_292t1:c.3012G>A
  • LRG_292:g.125465G>A
  • LRG_292p1:p.Glu1004=
  • NC_000017.10:g.41244536C>T
  • NM_007294.3:c.3012G>A
  • NR_027676.2:n.3189G>A
  • p.E1004E
Links:
dbSNP: rs786201784
NCBI 1000 Genomes Browser:
rs786201784
Molecular consequence:
  • NM_001407968.1:c.788-380G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.788-380G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.788-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.788-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.785-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.788-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.788-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.788-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.788-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.788-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.788-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.788-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.788-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.788-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.788-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.788-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.785-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.785-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.785-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.788-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.785-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.785-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.788-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.785-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.785-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.785-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.785-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.785-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.785-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.785-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.785-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.788-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.788-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.791-1496G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.785-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.779-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.710-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.647-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.710-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.710-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.707-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.710-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.710-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.707-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.665-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.665-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.665-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.665-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.665-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.665-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.662-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.662-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.662-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.662-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.665-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.665-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.665-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.665-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.665-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.665-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.665-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.665-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.665-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.662-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.662-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.662-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.662-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.662-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.653-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.647-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.647-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.647-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.647-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.647-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.647-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.647-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.647-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.647-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.647-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.644-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.644-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.644-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.644-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.647-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.647-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.644-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.647-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.644-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.788-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.785-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.587-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.584-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.587-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.578-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.578-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.578-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.578-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.578-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.578-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.578-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.578-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.578-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.575-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.575-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.578-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.575-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.524-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.524-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.524-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.524-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.524-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.524-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.455-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.521-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.521-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.521-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.452-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.452-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.407-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.284-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.578-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.578-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.788-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.788-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.2799G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407581.1:c.3012G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407582.1:c.3012G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407583.1:c.3012G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407585.1:c.3012G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407587.1:c.3009G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407590.1:c.3009G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407591.1:c.3009G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407593.1:c.3012G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407594.1:c.3012G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407596.1:c.3012G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407597.1:c.3012G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407598.1:c.3012G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407602.1:c.3012G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407603.1:c.3012G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407605.1:c.3012G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407610.1:c.3009G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407611.1:c.3009G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407612.1:c.3009G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407613.1:c.3009G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407614.1:c.3009G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407615.1:c.3009G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407616.1:c.3012G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407617.1:c.3012G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407618.1:c.3012G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407619.1:c.3012G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407620.1:c.3012G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407621.1:c.3012G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407622.1:c.3012G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407623.1:c.3012G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407624.1:c.3012G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407625.1:c.3012G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407626.1:c.3012G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407627.1:c.3009G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407628.1:c.3009G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407629.1:c.3009G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407630.1:c.3009G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407631.1:c.3009G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407632.1:c.3009G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407633.1:c.3009G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407634.1:c.3009G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407635.1:c.3009G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407636.1:c.3009G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407637.1:c.3009G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407638.1:c.3009G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407639.1:c.3012G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407640.1:c.3012G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407641.1:c.3012G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407642.1:c.3012G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407644.1:c.3009G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407645.1:c.3009G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407646.1:c.3003G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407647.1:c.3003G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407648.1:c.2889G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407649.1:c.2886G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407652.1:c.3012G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407653.1:c.2934G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407654.1:c.2934G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407655.1:c.2934G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407656.1:c.2934G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407657.1:c.2934G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407658.1:c.2934G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407659.1:c.2931G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407660.1:c.2931G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407661.1:c.2931G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407662.1:c.2931G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407663.1:c.2934G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407664.1:c.2889G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407665.1:c.2889G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407666.1:c.2889G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407667.1:c.2889G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407668.1:c.2889G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407669.1:c.2889G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407670.1:c.2886G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407671.1:c.2886G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407672.1:c.2886G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407673.1:c.2886G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407674.1:c.2889G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407675.1:c.2889G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407676.1:c.2889G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407677.1:c.2889G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407678.1:c.2889G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407679.1:c.2889G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407680.1:c.2889G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407681.1:c.2889G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407682.1:c.2889G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407683.1:c.2889G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407684.1:c.3012G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407685.1:c.2886G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407686.1:c.2886G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407687.1:c.2886G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407688.1:c.2886G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407689.1:c.2886G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407690.1:c.2886G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407691.1:c.2886G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407692.1:c.2871G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407694.1:c.2871G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407695.1:c.2871G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407696.1:c.2871G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407697.1:c.2871G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407698.1:c.2871G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407724.1:c.2871G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407725.1:c.2871G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407726.1:c.2871G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407727.1:c.2871G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407728.1:c.2871G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407729.1:c.2871G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407730.1:c.2871G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407731.1:c.2871G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407732.1:c.2871G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407733.1:c.2871G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407734.1:c.2871G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407735.1:c.2871G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407736.1:c.2871G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407737.1:c.2871G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407738.1:c.2871G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407739.1:c.2871G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407740.1:c.2868G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407741.1:c.2868G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407742.1:c.2868G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407743.1:c.2868G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407744.1:c.2868G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407745.1:c.2868G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407746.1:c.2868G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407747.1:c.2868G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407748.1:c.2868G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407749.1:c.2868G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407750.1:c.2871G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407751.1:c.2871G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407752.1:c.2871G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407838.1:c.2868G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407839.1:c.2868G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407841.1:c.2868G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407842.1:c.2868G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407843.1:c.2868G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407844.1:c.2868G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407845.1:c.2868G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407846.1:c.2868G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407847.1:c.2868G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407848.1:c.2868G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407849.1:c.2868G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407850.1:c.2871G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407851.1:c.2871G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407852.1:c.2871G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407853.1:c.2799G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407854.1:c.3012G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407858.1:c.3012G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407859.1:c.3012G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407860.1:c.3009G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407861.1:c.3009G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407862.1:c.2811G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407863.1:c.2889G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407874.1:c.2808G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407875.1:c.2808G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407879.1:c.2802G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407881.1:c.2802G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407882.1:c.2802G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407884.1:c.2802G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407885.1:c.2802G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407886.1:c.2802G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407887.1:c.2802G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407889.1:c.2802G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407894.1:c.2799G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407895.1:c.2799G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407896.1:c.2799G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407897.1:c.2799G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407898.1:c.2799G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407899.1:c.2799G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407900.1:c.2802G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407902.1:c.2802G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407904.1:c.2802G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407906.1:c.2802G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407907.1:c.2802G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407908.1:c.2802G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407909.1:c.2802G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407910.1:c.2802G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407915.1:c.2799G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407916.1:c.2799G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407917.1:c.2799G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407918.1:c.2799G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407919.1:c.2889G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407920.1:c.2748G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407921.1:c.2748G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407922.1:c.2748G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407923.1:c.2748G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407924.1:c.2748G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407925.1:c.2748G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407926.1:c.2748G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407927.1:c.2748G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407928.1:c.2748G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407929.1:c.2748G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407930.1:c.2745G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407931.1:c.2745G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407932.1:c.2745G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407933.1:c.2748G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407934.1:c.2745G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407935.1:c.2748G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407936.1:c.2745G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407937.1:c.2889G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407938.1:c.2889G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407939.1:c.2889G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407940.1:c.2886G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407941.1:c.2886G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407942.1:c.2871G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407943.1:c.2868G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407944.1:c.2871G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407945.1:c.2871G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407946.1:c.2679G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407947.1:c.2679G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407948.1:c.2679G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407949.1:c.2679G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407950.1:c.2679G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407951.1:c.2679G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407952.1:c.2679G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407953.1:c.2679G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407954.1:c.2676G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407955.1:c.2676G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407956.1:c.2676G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407957.1:c.2679G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407958.1:c.2676G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407959.1:c.2631G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407960.1:c.2631G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407962.1:c.2628G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407963.1:c.2631G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407964.1:c.2868G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407965.1:c.2508G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407966.1:c.2124G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407967.1:c.2124G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_007294.4:c.3012G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_007297.4:c.2871G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_007300.4:c.3012G>A - synonymous variant - [Sequence Ontology: SO:0001819]

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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000578257Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
reviewed by expert panel

(ENIGMA BRCA1/2 Classification Criteria (2017-06-29))
Likely benign
(Jun 29, 2017)
germlinecuration

Citation Link,

SCV001140566Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2017)
Likely benign
(May 28, 2019)
unknownclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000578257.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; http://priors.hci.utah.edu/PRIORS/).

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

From Mendelics, SCV001140566.1

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

Last Updated: Nov 10, 2024