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NM_007294.4(BRCA1):c.3012G>A (p.Glu1004=) AND not provided

Germline classification:
Conflicting interpretations of pathogenicity (3 submissions)
Last evaluated:
Jun 24, 2022
Review status:
criteria provided, conflicting classifications
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:
RCV000589951.13

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]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000224998Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)		Uncertain significance
(Jan 29, 2015) 		germlineclinical testing

Citation Link,

SCV000321425GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Mar 4, 2016) 		germlineclinical testing

Citation Link,

SCV000887655Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Likely benign
(Jun 24, 2022) 		unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Citations

PubMed

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

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

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

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From Eurofins Ntd Llc (ga), SCV000224998.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From GeneDx, SCV000321425.8

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

Description

This variant is denoted BRCA1 c.3012G>A at the DNA level. This variant is silent at the coding level, preserving a Glutamic Acid at codon 1004. Using alternate nomenclature, this variant would be defined as BRCA1 3131G>A. It is not predicted to cause abnormal splicing. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA1 c.3012G>A was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.The nucleotide which is altered, a guanine (G) at base 3012, is conserved in mammals. Based on currently available information, it is unclear whether BRCA1 c.3012G>A is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

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

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000887655.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 26, 2024