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NM_007294.4(BRCA1):c.3010G>C (p.Glu1004Gln) AND not provided

Germline classification:
Uncertain significance (3 submissions)
Last evaluated:
Aug 23, 2021
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000587834.6

Allele description [Variation Report for NM_007294.4(BRCA1):c.3010G>C (p.Glu1004Gln)]

NM_007294.4(BRCA1):c.3010G>C (p.Glu1004Gln)

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.3010G>C (p.Glu1004Gln)
HGVS:
  • NC_000017.11:g.43092521C>G
  • NG_005905.2:g.125463G>C
  • NM_001407571.1:c.2797G>C
  • NM_001407581.1:c.3010G>C
  • NM_001407582.1:c.3010G>C
  • NM_001407583.1:c.3010G>C
  • NM_001407585.1:c.3010G>C
  • NM_001407587.1:c.3007G>C
  • NM_001407590.1:c.3007G>C
  • NM_001407591.1:c.3007G>C
  • NM_001407593.1:c.3010G>C
  • NM_001407594.1:c.3010G>C
  • NM_001407596.1:c.3010G>C
  • NM_001407597.1:c.3010G>C
  • NM_001407598.1:c.3010G>C
  • NM_001407602.1:c.3010G>C
  • NM_001407603.1:c.3010G>C
  • NM_001407605.1:c.3010G>C
  • NM_001407610.1:c.3007G>C
  • NM_001407611.1:c.3007G>C
  • NM_001407612.1:c.3007G>C
  • NM_001407613.1:c.3007G>C
  • NM_001407614.1:c.3007G>C
  • NM_001407615.1:c.3007G>C
  • NM_001407616.1:c.3010G>C
  • NM_001407617.1:c.3010G>C
  • NM_001407618.1:c.3010G>C
  • NM_001407619.1:c.3010G>C
  • NM_001407620.1:c.3010G>C
  • NM_001407621.1:c.3010G>C
  • NM_001407622.1:c.3010G>C
  • NM_001407623.1:c.3010G>C
  • NM_001407624.1:c.3010G>C
  • NM_001407625.1:c.3010G>C
  • NM_001407626.1:c.3010G>C
  • NM_001407627.1:c.3007G>C
  • NM_001407628.1:c.3007G>C
  • NM_001407629.1:c.3007G>C
  • NM_001407630.1:c.3007G>C
  • NM_001407631.1:c.3007G>C
  • NM_001407632.1:c.3007G>C
  • NM_001407633.1:c.3007G>C
  • NM_001407634.1:c.3007G>C
  • NM_001407635.1:c.3007G>C
  • NM_001407636.1:c.3007G>C
  • NM_001407637.1:c.3007G>C
  • NM_001407638.1:c.3007G>C
  • NM_001407639.1:c.3010G>C
  • NM_001407640.1:c.3010G>C
  • NM_001407641.1:c.3010G>C
  • NM_001407642.1:c.3010G>C
  • NM_001407644.1:c.3007G>C
  • NM_001407645.1:c.3007G>C
  • NM_001407646.1:c.3001G>C
  • NM_001407647.1:c.3001G>C
  • NM_001407648.1:c.2887G>C
  • NM_001407649.1:c.2884G>C
  • NM_001407652.1:c.3010G>C
  • NM_001407653.1:c.2932G>C
  • NM_001407654.1:c.2932G>C
  • NM_001407655.1:c.2932G>C
  • NM_001407656.1:c.2932G>C
  • NM_001407657.1:c.2932G>C
  • NM_001407658.1:c.2932G>C
  • NM_001407659.1:c.2929G>C
  • NM_001407660.1:c.2929G>C
  • NM_001407661.1:c.2929G>C
  • NM_001407662.1:c.2929G>C
  • NM_001407663.1:c.2932G>C
  • NM_001407664.1:c.2887G>C
  • NM_001407665.1:c.2887G>C
  • NM_001407666.1:c.2887G>C
  • NM_001407667.1:c.2887G>C
  • NM_001407668.1:c.2887G>C
  • NM_001407669.1:c.2887G>C
  • NM_001407670.1:c.2884G>C
  • NM_001407671.1:c.2884G>C
  • NM_001407672.1:c.2884G>C
  • NM_001407673.1:c.2884G>C
  • NM_001407674.1:c.2887G>C
  • NM_001407675.1:c.2887G>C
  • NM_001407676.1:c.2887G>C
  • NM_001407677.1:c.2887G>C
  • NM_001407678.1:c.2887G>C
  • NM_001407679.1:c.2887G>C
  • NM_001407680.1:c.2887G>C
  • NM_001407681.1:c.2887G>C
  • NM_001407682.1:c.2887G>C
  • NM_001407683.1:c.2887G>C
  • NM_001407684.1:c.3010G>C
  • NM_001407685.1:c.2884G>C
  • NM_001407686.1:c.2884G>C
  • NM_001407687.1:c.2884G>C
  • NM_001407688.1:c.2884G>C
  • NM_001407689.1:c.2884G>C
  • NM_001407690.1:c.2884G>C
  • NM_001407691.1:c.2884G>C
  • NM_001407692.1:c.2869G>C
  • NM_001407694.1:c.2869G>C
  • NM_001407695.1:c.2869G>C
  • NM_001407696.1:c.2869G>C
  • NM_001407697.1:c.2869G>C
  • NM_001407698.1:c.2869G>C
  • NM_001407724.1:c.2869G>C
  • NM_001407725.1:c.2869G>C
  • NM_001407726.1:c.2869G>C
  • NM_001407727.1:c.2869G>C
  • NM_001407728.1:c.2869G>C
  • NM_001407729.1:c.2869G>C
  • NM_001407730.1:c.2869G>C
  • NM_001407731.1:c.2869G>C
  • NM_001407732.1:c.2869G>C
  • NM_001407733.1:c.2869G>C
  • NM_001407734.1:c.2869G>C
  • NM_001407735.1:c.2869G>C
  • NM_001407736.1:c.2869G>C
  • NM_001407737.1:c.2869G>C
  • NM_001407738.1:c.2869G>C
  • NM_001407739.1:c.2869G>C
  • NM_001407740.1:c.2866G>C
  • NM_001407741.1:c.2866G>C
  • NM_001407742.1:c.2866G>C
  • NM_001407743.1:c.2866G>C
  • NM_001407744.1:c.2866G>C
  • NM_001407745.1:c.2866G>C
  • NM_001407746.1:c.2866G>C
  • NM_001407747.1:c.2866G>C
  • NM_001407748.1:c.2866G>C
  • NM_001407749.1:c.2866G>C
  • NM_001407750.1:c.2869G>C
  • NM_001407751.1:c.2869G>C
  • NM_001407752.1:c.2869G>C
  • NM_001407838.1:c.2866G>C
  • NM_001407839.1:c.2866G>C
  • NM_001407841.1:c.2866G>C
  • NM_001407842.1:c.2866G>C
  • NM_001407843.1:c.2866G>C
  • NM_001407844.1:c.2866G>C
  • NM_001407845.1:c.2866G>C
  • NM_001407846.1:c.2866G>C
  • NM_001407847.1:c.2866G>C
  • NM_001407848.1:c.2866G>C
  • NM_001407849.1:c.2866G>C
  • NM_001407850.1:c.2869G>C
  • NM_001407851.1:c.2869G>C
  • NM_001407852.1:c.2869G>C
  • NM_001407853.1:c.2797G>C
  • NM_001407854.1:c.3010G>C
  • NM_001407858.1:c.3010G>C
  • NM_001407859.1:c.3010G>C
  • NM_001407860.1:c.3007G>C
  • NM_001407861.1:c.3007G>C
  • NM_001407862.1:c.2809G>C
  • NM_001407863.1:c.2887G>C
  • NM_001407874.1:c.2806G>C
  • NM_001407875.1:c.2806G>C
  • NM_001407879.1:c.2800G>C
  • NM_001407881.1:c.2800G>C
  • NM_001407882.1:c.2800G>C
  • NM_001407884.1:c.2800G>C
  • NM_001407885.1:c.2800G>C
  • NM_001407886.1:c.2800G>C
  • NM_001407887.1:c.2800G>C
  • NM_001407889.1:c.2800G>C
  • NM_001407894.1:c.2797G>C
  • NM_001407895.1:c.2797G>C
  • NM_001407896.1:c.2797G>C
  • NM_001407897.1:c.2797G>C
  • NM_001407898.1:c.2797G>C
  • NM_001407899.1:c.2797G>C
  • NM_001407900.1:c.2800G>C
  • NM_001407902.1:c.2800G>C
  • NM_001407904.1:c.2800G>C
  • NM_001407906.1:c.2800G>C
  • NM_001407907.1:c.2800G>C
  • NM_001407908.1:c.2800G>C
  • NM_001407909.1:c.2800G>C
  • NM_001407910.1:c.2800G>C
  • NM_001407915.1:c.2797G>C
  • NM_001407916.1:c.2797G>C
  • NM_001407917.1:c.2797G>C
  • NM_001407918.1:c.2797G>C
  • NM_001407919.1:c.2887G>C
  • NM_001407920.1:c.2746G>C
  • NM_001407921.1:c.2746G>C
  • NM_001407922.1:c.2746G>C
  • NM_001407923.1:c.2746G>C
  • NM_001407924.1:c.2746G>C
  • NM_001407925.1:c.2746G>C
  • NM_001407926.1:c.2746G>C
  • NM_001407927.1:c.2746G>C
  • NM_001407928.1:c.2746G>C
  • NM_001407929.1:c.2746G>C
  • NM_001407930.1:c.2743G>C
  • NM_001407931.1:c.2743G>C
  • NM_001407932.1:c.2743G>C
  • NM_001407933.1:c.2746G>C
  • NM_001407934.1:c.2743G>C
  • NM_001407935.1:c.2746G>C
  • NM_001407936.1:c.2743G>C
  • NM_001407937.1:c.2887G>C
  • NM_001407938.1:c.2887G>C
  • NM_001407939.1:c.2887G>C
  • NM_001407940.1:c.2884G>C
  • NM_001407941.1:c.2884G>C
  • NM_001407942.1:c.2869G>C
  • NM_001407943.1:c.2866G>C
  • NM_001407944.1:c.2869G>C
  • NM_001407945.1:c.2869G>C
  • NM_001407946.1:c.2677G>C
  • NM_001407947.1:c.2677G>C
  • NM_001407948.1:c.2677G>C
  • NM_001407949.1:c.2677G>C
  • NM_001407950.1:c.2677G>C
  • NM_001407951.1:c.2677G>C
  • NM_001407952.1:c.2677G>C
  • NM_001407953.1:c.2677G>C
  • NM_001407954.1:c.2674G>C
  • NM_001407955.1:c.2674G>C
  • NM_001407956.1:c.2674G>C
  • NM_001407957.1:c.2677G>C
  • NM_001407958.1:c.2674G>C
  • NM_001407959.1:c.2629G>C
  • NM_001407960.1:c.2629G>C
  • NM_001407962.1:c.2626G>C
  • NM_001407963.1:c.2629G>C
  • NM_001407964.1:c.2866G>C
  • NM_001407965.1:c.2506G>C
  • NM_001407966.1:c.2122G>C
  • NM_001407967.1:c.2122G>C
  • NM_001407968.1:c.788-382G>C
  • NM_001407969.1:c.788-382G>C
  • NM_001407970.1:c.788-1489G>C
  • NM_001407971.1:c.788-1489G>C
  • NM_001407972.1:c.785-1489G>C
  • NM_001407973.1:c.788-1489G>C
  • NM_001407974.1:c.788-1489G>C
  • NM_001407975.1:c.788-1489G>C
  • NM_001407976.1:c.788-1489G>C
  • NM_001407977.1:c.788-1489G>C
  • NM_001407978.1:c.788-1489G>C
  • NM_001407979.1:c.788-1489G>C
  • NM_001407980.1:c.788-1489G>C
  • NM_001407981.1:c.788-1489G>C
  • NM_001407982.1:c.788-1489G>C
  • NM_001407983.1:c.788-1489G>C
  • NM_001407984.1:c.785-1489G>C
  • NM_001407985.1:c.785-1489G>C
  • NM_001407986.1:c.785-1489G>C
  • NM_001407990.1:c.788-1489G>C
  • NM_001407991.1:c.785-1489G>C
  • NM_001407992.1:c.785-1489G>C
  • NM_001407993.1:c.788-1489G>C
  • NM_001408392.1:c.785-1489G>C
  • NM_001408396.1:c.785-1489G>C
  • NM_001408397.1:c.785-1489G>C
  • NM_001408398.1:c.785-1489G>C
  • NM_001408399.1:c.785-1489G>C
  • NM_001408400.1:c.785-1489G>C
  • NM_001408401.1:c.785-1489G>C
  • NM_001408402.1:c.785-1489G>C
  • NM_001408403.1:c.788-1489G>C
  • NM_001408404.1:c.788-1489G>C
  • NM_001408406.1:c.791-1498G>C
  • NM_001408407.1:c.785-1489G>C
  • NM_001408408.1:c.779-1489G>C
  • NM_001408409.1:c.710-1489G>C
  • NM_001408410.1:c.647-1489G>C
  • NM_001408411.1:c.710-1489G>C
  • NM_001408412.1:c.710-1489G>C
  • NM_001408413.1:c.707-1489G>C
  • NM_001408414.1:c.710-1489G>C
  • NM_001408415.1:c.710-1489G>C
  • NM_001408416.1:c.707-1489G>C
  • NM_001408418.1:c.671-1489G>C
  • NM_001408419.1:c.671-1489G>C
  • NM_001408420.1:c.671-1489G>C
  • NM_001408421.1:c.668-1489G>C
  • NM_001408422.1:c.671-1489G>C
  • NM_001408423.1:c.671-1489G>C
  • NM_001408424.1:c.668-1489G>C
  • NM_001408425.1:c.665-1489G>C
  • NM_001408426.1:c.665-1489G>C
  • NM_001408427.1:c.665-1489G>C
  • NM_001408428.1:c.665-1489G>C
  • NM_001408429.1:c.665-1489G>C
  • NM_001408430.1:c.665-1489G>C
  • NM_001408431.1:c.668-1489G>C
  • NM_001408432.1:c.662-1489G>C
  • NM_001408433.1:c.662-1489G>C
  • NM_001408434.1:c.662-1489G>C
  • NM_001408435.1:c.662-1489G>C
  • NM_001408436.1:c.665-1489G>C
  • NM_001408437.1:c.665-1489G>C
  • NM_001408438.1:c.665-1489G>C
  • NM_001408439.1:c.665-1489G>C
  • NM_001408440.1:c.665-1489G>C
  • NM_001408441.1:c.665-1489G>C
  • NM_001408442.1:c.665-1489G>C
  • NM_001408443.1:c.665-1489G>C
  • NM_001408444.1:c.665-1489G>C
  • NM_001408445.1:c.662-1489G>C
  • NM_001408446.1:c.662-1489G>C
  • NM_001408447.1:c.662-1489G>C
  • NM_001408448.1:c.662-1489G>C
  • NM_001408450.1:c.662-1489G>C
  • NM_001408451.1:c.653-1489G>C
  • NM_001408452.1:c.647-1489G>C
  • NM_001408453.1:c.647-1489G>C
  • NM_001408454.1:c.647-1489G>C
  • NM_001408455.1:c.647-1489G>C
  • NM_001408456.1:c.647-1489G>C
  • NM_001408457.1:c.647-1489G>C
  • NM_001408458.1:c.647-1489G>C
  • NM_001408459.1:c.647-1489G>C
  • NM_001408460.1:c.647-1489G>C
  • NM_001408461.1:c.647-1489G>C
  • NM_001408462.1:c.644-1489G>C
  • NM_001408463.1:c.644-1489G>C
  • NM_001408464.1:c.644-1489G>C
  • NM_001408465.1:c.644-1489G>C
  • NM_001408466.1:c.647-1489G>C
  • NM_001408467.1:c.647-1489G>C
  • NM_001408468.1:c.644-1489G>C
  • NM_001408469.1:c.647-1489G>C
  • NM_001408470.1:c.644-1489G>C
  • NM_001408472.1:c.788-1489G>C
  • NM_001408473.1:c.785-1489G>C
  • NM_001408474.1:c.587-1489G>C
  • NM_001408475.1:c.584-1489G>C
  • NM_001408476.1:c.587-1489G>C
  • NM_001408478.1:c.578-1489G>C
  • NM_001408479.1:c.578-1489G>C
  • NM_001408480.1:c.578-1489G>C
  • NM_001408481.1:c.578-1489G>C
  • NM_001408482.1:c.578-1489G>C
  • NM_001408483.1:c.578-1489G>C
  • NM_001408484.1:c.578-1489G>C
  • NM_001408485.1:c.578-1489G>C
  • NM_001408489.1:c.578-1489G>C
  • NM_001408490.1:c.575-1489G>C
  • NM_001408491.1:c.575-1489G>C
  • NM_001408492.1:c.578-1489G>C
  • NM_001408493.1:c.575-1489G>C
  • NM_001408494.1:c.548-1489G>C
  • NM_001408495.1:c.545-1489G>C
  • NM_001408496.1:c.524-1489G>C
  • NM_001408497.1:c.524-1489G>C
  • NM_001408498.1:c.524-1489G>C
  • NM_001408499.1:c.524-1489G>C
  • NM_001408500.1:c.524-1489G>C
  • NM_001408501.1:c.524-1489G>C
  • NM_001408502.1:c.455-1489G>C
  • NM_001408503.1:c.521-1489G>C
  • NM_001408504.1:c.521-1489G>C
  • NM_001408505.1:c.521-1489G>C
  • NM_001408506.1:c.461-1489G>C
  • NM_001408507.1:c.461-1489G>C
  • NM_001408508.1:c.452-1489G>C
  • NM_001408509.1:c.452-1489G>C
  • NM_001408510.1:c.407-1489G>C
  • NM_001408511.1:c.404-1489G>C
  • NM_001408512.1:c.284-1489G>C
  • NM_001408513.1:c.578-1489G>C
  • NM_001408514.1:c.578-1489G>C
  • NM_007294.4:c.3010G>CMANE SELECT
  • NM_007297.4:c.2869G>C
  • NM_007298.4:c.788-1489G>C
  • NM_007299.4:c.788-1489G>C
  • NM_007300.4:c.3010G>C
  • NP_001394500.1:p.Glu933Gln
  • NP_001394510.1:p.Glu1004Gln
  • NP_001394511.1:p.Glu1004Gln
  • NP_001394512.1:p.Glu1004Gln
  • NP_001394514.1:p.Glu1004Gln
  • NP_001394516.1:p.Glu1003Gln
  • NP_001394519.1:p.Glu1003Gln
  • NP_001394520.1:p.Glu1003Gln
  • NP_001394522.1:p.Glu1004Gln
  • NP_001394523.1:p.Glu1004Gln
  • NP_001394525.1:p.Glu1004Gln
  • NP_001394526.1:p.Glu1004Gln
  • NP_001394527.1:p.Glu1004Gln
  • NP_001394531.1:p.Glu1004Gln
  • NP_001394532.1:p.Glu1004Gln
  • NP_001394534.1:p.Glu1004Gln
  • NP_001394539.1:p.Glu1003Gln
  • NP_001394540.1:p.Glu1003Gln
  • NP_001394541.1:p.Glu1003Gln
  • NP_001394542.1:p.Glu1003Gln
  • NP_001394543.1:p.Glu1003Gln
  • NP_001394544.1:p.Glu1003Gln
  • NP_001394545.1:p.Glu1004Gln
  • NP_001394546.1:p.Glu1004Gln
  • NP_001394547.1:p.Glu1004Gln
  • NP_001394548.1:p.Glu1004Gln
  • NP_001394549.1:p.Glu1004Gln
  • NP_001394550.1:p.Glu1004Gln
  • NP_001394551.1:p.Glu1004Gln
  • NP_001394552.1:p.Glu1004Gln
  • NP_001394553.1:p.Glu1004Gln
  • NP_001394554.1:p.Glu1004Gln
  • NP_001394555.1:p.Glu1004Gln
  • NP_001394556.1:p.Glu1003Gln
  • NP_001394557.1:p.Glu1003Gln
  • NP_001394558.1:p.Glu1003Gln
  • NP_001394559.1:p.Glu1003Gln
  • NP_001394560.1:p.Glu1003Gln
  • NP_001394561.1:p.Glu1003Gln
  • NP_001394562.1:p.Glu1003Gln
  • NP_001394563.1:p.Glu1003Gln
  • NP_001394564.1:p.Glu1003Gln
  • NP_001394565.1:p.Glu1003Gln
  • NP_001394566.1:p.Glu1003Gln
  • NP_001394567.1:p.Glu1003Gln
  • NP_001394568.1:p.Glu1004Gln
  • NP_001394569.1:p.Glu1004Gln
  • NP_001394570.1:p.Glu1004Gln
  • NP_001394571.1:p.Glu1004Gln
  • NP_001394573.1:p.Glu1003Gln
  • NP_001394574.1:p.Glu1003Gln
  • NP_001394575.1:p.Glu1001Gln
  • NP_001394576.1:p.Glu1001Gln
  • NP_001394577.1:p.Glu963Gln
  • NP_001394578.1:p.Glu962Gln
  • NP_001394581.1:p.Glu1004Gln
  • NP_001394582.1:p.Glu978Gln
  • NP_001394583.1:p.Glu978Gln
  • NP_001394584.1:p.Glu978Gln
  • NP_001394585.1:p.Glu978Gln
  • NP_001394586.1:p.Glu978Gln
  • NP_001394587.1:p.Glu978Gln
  • NP_001394588.1:p.Glu977Gln
  • NP_001394589.1:p.Glu977Gln
  • NP_001394590.1:p.Glu977Gln
  • NP_001394591.1:p.Glu977Gln
  • NP_001394592.1:p.Glu978Gln
  • NP_001394593.1:p.Glu963Gln
  • NP_001394594.1:p.Glu963Gln
  • NP_001394595.1:p.Glu963Gln
  • NP_001394596.1:p.Glu963Gln
  • NP_001394597.1:p.Glu963Gln
  • NP_001394598.1:p.Glu963Gln
  • NP_001394599.1:p.Glu962Gln
  • NP_001394600.1:p.Glu962Gln
  • NP_001394601.1:p.Glu962Gln
  • NP_001394602.1:p.Glu962Gln
  • NP_001394603.1:p.Glu963Gln
  • NP_001394604.1:p.Glu963Gln
  • NP_001394605.1:p.Glu963Gln
  • NP_001394606.1:p.Glu963Gln
  • NP_001394607.1:p.Glu963Gln
  • NP_001394608.1:p.Glu963Gln
  • NP_001394609.1:p.Glu963Gln
  • NP_001394610.1:p.Glu963Gln
  • NP_001394611.1:p.Glu963Gln
  • NP_001394612.1:p.Glu963Gln
  • NP_001394613.1:p.Glu1004Gln
  • NP_001394614.1:p.Glu962Gln
  • NP_001394615.1:p.Glu962Gln
  • NP_001394616.1:p.Glu962Gln
  • NP_001394617.1:p.Glu962Gln
  • NP_001394618.1:p.Glu962Gln
  • NP_001394619.1:p.Glu962Gln
  • NP_001394620.1:p.Glu962Gln
  • NP_001394621.1:p.Glu957Gln
  • NP_001394623.1:p.Glu957Gln
  • NP_001394624.1:p.Glu957Gln
  • NP_001394625.1:p.Glu957Gln
  • NP_001394626.1:p.Glu957Gln
  • NP_001394627.1:p.Glu957Gln
  • NP_001394653.1:p.Glu957Gln
  • NP_001394654.1:p.Glu957Gln
  • NP_001394655.1:p.Glu957Gln
  • NP_001394656.1:p.Glu957Gln
  • NP_001394657.1:p.Glu957Gln
  • NP_001394658.1:p.Glu957Gln
  • NP_001394659.1:p.Glu957Gln
  • NP_001394660.1:p.Glu957Gln
  • NP_001394661.1:p.Glu957Gln
  • NP_001394662.1:p.Glu957Gln
  • NP_001394663.1:p.Glu957Gln
  • NP_001394664.1:p.Glu957Gln
  • NP_001394665.1:p.Glu957Gln
  • NP_001394666.1:p.Glu957Gln
  • NP_001394667.1:p.Glu957Gln
  • NP_001394668.1:p.Glu957Gln
  • NP_001394669.1:p.Glu956Gln
  • NP_001394670.1:p.Glu956Gln
  • NP_001394671.1:p.Glu956Gln
  • NP_001394672.1:p.Glu956Gln
  • NP_001394673.1:p.Glu956Gln
  • NP_001394674.1:p.Glu956Gln
  • NP_001394675.1:p.Glu956Gln
  • NP_001394676.1:p.Glu956Gln
  • NP_001394677.1:p.Glu956Gln
  • NP_001394678.1:p.Glu956Gln
  • NP_001394679.1:p.Glu957Gln
  • NP_001394680.1:p.Glu957Gln
  • NP_001394681.1:p.Glu957Gln
  • NP_001394767.1:p.Glu956Gln
  • NP_001394768.1:p.Glu956Gln
  • NP_001394770.1:p.Glu956Gln
  • NP_001394771.1:p.Glu956Gln
  • NP_001394772.1:p.Glu956Gln
  • NP_001394773.1:p.Glu956Gln
  • NP_001394774.1:p.Glu956Gln
  • NP_001394775.1:p.Glu956Gln
  • NP_001394776.1:p.Glu956Gln
  • NP_001394777.1:p.Glu956Gln
  • NP_001394778.1:p.Glu956Gln
  • NP_001394779.1:p.Glu957Gln
  • NP_001394780.1:p.Glu957Gln
  • NP_001394781.1:p.Glu957Gln
  • NP_001394782.1:p.Glu933Gln
  • NP_001394783.1:p.Glu1004Gln
  • NP_001394787.1:p.Glu1004Gln
  • NP_001394788.1:p.Glu1004Gln
  • NP_001394789.1:p.Glu1003Gln
  • NP_001394790.1:p.Glu1003Gln
  • NP_001394791.1:p.Glu937Gln
  • NP_001394792.1:p.Glu963Gln
  • NP_001394803.1:p.Glu936Gln
  • NP_001394804.1:p.Glu936Gln
  • NP_001394808.1:p.Glu934Gln
  • NP_001394810.1:p.Glu934Gln
  • NP_001394811.1:p.Glu934Gln
  • NP_001394813.1:p.Glu934Gln
  • NP_001394814.1:p.Glu934Gln
  • NP_001394815.1:p.Glu934Gln
  • NP_001394816.1:p.Glu934Gln
  • NP_001394818.1:p.Glu934Gln
  • NP_001394823.1:p.Glu933Gln
  • NP_001394824.1:p.Glu933Gln
  • NP_001394825.1:p.Glu933Gln
  • NP_001394826.1:p.Glu933Gln
  • NP_001394827.1:p.Glu933Gln
  • NP_001394828.1:p.Glu933Gln
  • NP_001394829.1:p.Glu934Gln
  • NP_001394831.1:p.Glu934Gln
  • NP_001394833.1:p.Glu934Gln
  • NP_001394835.1:p.Glu934Gln
  • NP_001394836.1:p.Glu934Gln
  • NP_001394837.1:p.Glu934Gln
  • NP_001394838.1:p.Glu934Gln
  • NP_001394839.1:p.Glu934Gln
  • NP_001394844.1:p.Glu933Gln
  • NP_001394845.1:p.Glu933Gln
  • NP_001394846.1:p.Glu933Gln
  • NP_001394847.1:p.Glu933Gln
  • NP_001394848.1:p.Glu963Gln
  • NP_001394849.1:p.Glu916Gln
  • NP_001394850.1:p.Glu916Gln
  • NP_001394851.1:p.Glu916Gln
  • NP_001394852.1:p.Glu916Gln
  • NP_001394853.1:p.Glu916Gln
  • NP_001394854.1:p.Glu916Gln
  • NP_001394855.1:p.Glu916Gln
  • NP_001394856.1:p.Glu916Gln
  • NP_001394857.1:p.Glu916Gln
  • NP_001394858.1:p.Glu916Gln
  • NP_001394859.1:p.Glu915Gln
  • NP_001394860.1:p.Glu915Gln
  • NP_001394861.1:p.Glu915Gln
  • NP_001394862.1:p.Glu916Gln
  • NP_001394863.1:p.Glu915Gln
  • NP_001394864.1:p.Glu916Gln
  • NP_001394865.1:p.Glu915Gln
  • NP_001394866.1:p.Glu963Gln
  • NP_001394867.1:p.Glu963Gln
  • NP_001394868.1:p.Glu963Gln
  • NP_001394869.1:p.Glu962Gln
  • NP_001394870.1:p.Glu962Gln
  • NP_001394871.1:p.Glu957Gln
  • NP_001394872.1:p.Glu956Gln
  • NP_001394873.1:p.Glu957Gln
  • NP_001394874.1:p.Glu957Gln
  • NP_001394875.1:p.Glu893Gln
  • NP_001394876.1:p.Glu893Gln
  • NP_001394877.1:p.Glu893Gln
  • NP_001394878.1:p.Glu893Gln
  • NP_001394879.1:p.Glu893Gln
  • NP_001394880.1:p.Glu893Gln
  • NP_001394881.1:p.Glu893Gln
  • NP_001394882.1:p.Glu893Gln
  • NP_001394883.1:p.Glu892Gln
  • NP_001394884.1:p.Glu892Gln
  • NP_001394885.1:p.Glu892Gln
  • NP_001394886.1:p.Glu893Gln
  • NP_001394887.1:p.Glu892Gln
  • NP_001394888.1:p.Glu877Gln
  • NP_001394889.1:p.Glu877Gln
  • NP_001394891.1:p.Glu876Gln
  • NP_001394892.1:p.Glu877Gln
  • NP_001394893.1:p.Glu956Gln
  • NP_001394894.1:p.Glu836Gln
  • NP_001394895.1:p.Glu708Gln
  • NP_001394896.1:p.Glu708Gln
  • NP_009225.1:p.Glu1004Gln
  • NP_009225.1:p.Glu1004Gln
  • NP_009228.2:p.Glu957Gln
  • NP_009231.2:p.Glu1004Gln
  • LRG_292t1:c.3010G>C
  • LRG_292:g.125463G>C
  • LRG_292p1:p.Glu1004Gln
  • NC_000017.10:g.41244538C>G
  • NM_007294.3:c.3010G>C
  • NR_027676.1:n.3146G>C
  • p.E1004Q
Protein change:
E1001Q
Links:
dbSNP: rs786202534
NCBI 1000 Genomes Browser:
rs786202534
Molecular consequence:
  • NM_001407968.1:c.788-382G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.788-382G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.788-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.788-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.785-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.788-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.788-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.788-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.788-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.788-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.788-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.788-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.788-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.788-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.788-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.788-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.785-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.785-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.785-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.788-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.785-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.785-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.788-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.785-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.785-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.785-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.785-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.785-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.785-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.785-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.785-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.788-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.788-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.791-1498G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.785-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.779-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.710-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.647-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.710-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.710-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.707-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.710-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.710-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.707-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.665-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.665-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.665-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.665-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.665-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.665-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.662-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.662-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.662-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.662-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.665-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.665-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.665-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.665-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.665-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.665-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.665-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.665-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.665-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.662-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.662-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.662-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.662-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.662-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.653-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.647-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.647-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.647-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.647-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.647-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.647-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.647-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.647-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.647-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.647-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.644-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.644-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.644-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.644-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.647-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.647-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.644-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.647-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.644-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.788-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.785-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.587-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.584-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.587-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.578-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.578-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.578-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.578-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.578-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.578-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.578-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.578-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.578-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.575-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.575-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.578-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.575-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.524-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.524-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.524-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.524-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.524-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.524-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.455-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.521-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.521-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.521-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.452-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.452-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.407-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.284-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.578-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.578-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.788-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.788-1489G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.2797G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.3010G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.3010G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.3010G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.3010G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.3007G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.3007G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.3007G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.3010G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.3010G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.3010G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.3010G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.3010G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.3010G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.3010G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.3010G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.3007G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.3007G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.3007G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.3007G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.3007G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.3007G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.3010G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.3010G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.3010G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.3010G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.3010G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.3010G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.3010G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.3010G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.3010G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.3010G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.3010G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.3007G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.3007G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.3007G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.3007G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.3007G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.3007G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.3007G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.3007G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.3007G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.3007G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.3007G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.3007G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.3010G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.3010G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.3010G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.3010G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.3007G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.3007G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.3001G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.3001G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.2887G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.2884G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.3010G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.2932G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.2932G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.2932G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.2932G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.2932G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.2932G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.2929G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.2929G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.2929G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.2929G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.2932G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.2887G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.2887G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.2887G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.2887G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.2887G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.2887G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.2884G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.2884G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.2884G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.2884G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.2887G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.2887G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.2887G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.2887G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.2887G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.2887G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.2887G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.2887G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.2887G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.2887G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.3010G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.2884G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.2884G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.2884G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.2884G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.2884G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.2884G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.2884G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.2869G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.2869G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.2869G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.2869G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.2869G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.2869G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.2869G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.2869G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.2869G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.2869G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.2869G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.2869G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.2869G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.2869G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.2869G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.2869G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.2869G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.2869G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.2869G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.2869G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.2869G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.2869G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.2866G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.2866G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.2866G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.2866G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.2866G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.2866G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.2866G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.2866G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.2866G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.2866G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.2869G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.2869G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.2869G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.2866G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.2866G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.2866G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.2866G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.2866G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.2866G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.2866G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.2866G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.2866G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.2866G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.2866G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.2869G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.2869G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.2869G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.2797G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.3010G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.3010G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.3010G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.3007G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.3007G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.2809G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.2887G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.2806G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.2806G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.2800G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.2800G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.2800G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.2800G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.2800G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.2800G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.2800G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.2800G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.2797G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.2797G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.2797G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.2797G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.2797G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.2797G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.2800G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.2800G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.2800G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.2800G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.2800G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.2800G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.2800G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.2800G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.2797G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.2797G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.2797G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.2797G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.2887G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.2746G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.2746G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.2746G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.2746G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.2746G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.2746G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.2746G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.2746G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.2746G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.2746G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.2743G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.2743G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.2743G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.2746G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.2743G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.2746G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.2743G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.2887G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.2887G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.2887G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.2884G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.2884G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.2869G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.2866G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.2869G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.2869G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.2677G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.2677G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.2677G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.2677G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.2677G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.2677G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.2677G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.2677G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.2674G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.2674G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.2674G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.2677G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.2674G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.2629G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.2629G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.2626G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.2629G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.2866G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.2506G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.2122G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.2122G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.3010G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.2869G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.3010G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000565795GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Aug 23, 2021) 		germlineclinical testing

Citation Link,

SCV000698996Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Jul 27, 2017) 		germlineclinical testing

LabCorp Variant Classification Summary - May 2015.docx,

Citation Link,

SCV001133544Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Uncertain significance
(Oct 30, 2018) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlineyesnot providednot 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 GeneDx, SCV000565795.5

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

Description

Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Also known as 3129G>C; This variant is associated with the following publications: (PMID: 15343273)

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

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000698996.1

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

Description

Variant summary: The BRCA1 c.3010G>C (p.Glu1004Gln) variant involves the alteration of a conserved nucleotide that does not lie within a known functional domain (InterPro). 2/3 in silico tools predict a benign outcome for this variant (SNPsandGO and MutationTaster not captured due to low reliability index/p-value). This variant is absent in 121088 control chromosomes (ExAC), but is present in gnomAD (2/276894 control chromosomes). Multiple clinical diagnostic laboratories/reputable databases have classified this variant as one of uncertain significance. The variant of interest has not, to our knowledge, been reported in affected individuals via publications, nor has it been evaluated for functional impact by in vivo/vitro studies. Due to the absence of clinical information and lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available.

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

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001133544.2

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

Last Updated: Sep 29, 2024