U.S. flag

An official website of the United States government

NM_007294.4(BRCA1):c.3044G>A (p.Gly1015Glu) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 18, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV004369419.1

Allele description [Variation Report for NM_007294.4(BRCA1):c.3044G>A (p.Gly1015Glu)]

NM_007294.4(BRCA1):c.3044G>A (p.Gly1015Glu)

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.3044G>A (p.Gly1015Glu)
HGVS:
  • NC_000017.11:g.43092487C>T
  • NG_005905.2:g.125497G>A
  • NM_001407571.1:c.2831G>A
  • NM_001407581.1:c.3044G>A
  • NM_001407582.1:c.3044G>A
  • NM_001407583.1:c.3044G>A
  • NM_001407585.1:c.3044G>A
  • NM_001407587.1:c.3041G>A
  • NM_001407590.1:c.3041G>A
  • NM_001407591.1:c.3041G>A
  • NM_001407593.1:c.3044G>A
  • NM_001407594.1:c.3044G>A
  • NM_001407596.1:c.3044G>A
  • NM_001407597.1:c.3044G>A
  • NM_001407598.1:c.3044G>A
  • NM_001407602.1:c.3044G>A
  • NM_001407603.1:c.3044G>A
  • NM_001407605.1:c.3044G>A
  • NM_001407610.1:c.3041G>A
  • NM_001407611.1:c.3041G>A
  • NM_001407612.1:c.3041G>A
  • NM_001407613.1:c.3041G>A
  • NM_001407614.1:c.3041G>A
  • NM_001407615.1:c.3041G>A
  • NM_001407616.1:c.3044G>A
  • NM_001407617.1:c.3044G>A
  • NM_001407618.1:c.3044G>A
  • NM_001407619.1:c.3044G>A
  • NM_001407620.1:c.3044G>A
  • NM_001407621.1:c.3044G>A
  • NM_001407622.1:c.3044G>A
  • NM_001407623.1:c.3044G>A
  • NM_001407624.1:c.3044G>A
  • NM_001407625.1:c.3044G>A
  • NM_001407626.1:c.3044G>A
  • NM_001407627.1:c.3041G>A
  • NM_001407628.1:c.3041G>A
  • NM_001407629.1:c.3041G>A
  • NM_001407630.1:c.3041G>A
  • NM_001407631.1:c.3041G>A
  • NM_001407632.1:c.3041G>A
  • NM_001407633.1:c.3041G>A
  • NM_001407634.1:c.3041G>A
  • NM_001407635.1:c.3041G>A
  • NM_001407636.1:c.3041G>A
  • NM_001407637.1:c.3041G>A
  • NM_001407638.1:c.3041G>A
  • NM_001407639.1:c.3044G>A
  • NM_001407640.1:c.3044G>A
  • NM_001407641.1:c.3044G>A
  • NM_001407642.1:c.3044G>A
  • NM_001407644.1:c.3041G>A
  • NM_001407645.1:c.3041G>A
  • NM_001407646.1:c.3035G>A
  • NM_001407647.1:c.3035G>A
  • NM_001407648.1:c.2921G>A
  • NM_001407649.1:c.2918G>A
  • NM_001407652.1:c.3044G>A
  • NM_001407653.1:c.2966G>A
  • NM_001407654.1:c.2966G>A
  • NM_001407655.1:c.2966G>A
  • NM_001407656.1:c.2966G>A
  • NM_001407657.1:c.2966G>A
  • NM_001407658.1:c.2966G>A
  • NM_001407659.1:c.2963G>A
  • NM_001407660.1:c.2963G>A
  • NM_001407661.1:c.2963G>A
  • NM_001407662.1:c.2963G>A
  • NM_001407663.1:c.2966G>A
  • NM_001407664.1:c.2921G>A
  • NM_001407665.1:c.2921G>A
  • NM_001407666.1:c.2921G>A
  • NM_001407667.1:c.2921G>A
  • NM_001407668.1:c.2921G>A
  • NM_001407669.1:c.2921G>A
  • NM_001407670.1:c.2918G>A
  • NM_001407671.1:c.2918G>A
  • NM_001407672.1:c.2918G>A
  • NM_001407673.1:c.2918G>A
  • NM_001407674.1:c.2921G>A
  • NM_001407675.1:c.2921G>A
  • NM_001407676.1:c.2921G>A
  • NM_001407677.1:c.2921G>A
  • NM_001407678.1:c.2921G>A
  • NM_001407679.1:c.2921G>A
  • NM_001407680.1:c.2921G>A
  • NM_001407681.1:c.2921G>A
  • NM_001407682.1:c.2921G>A
  • NM_001407683.1:c.2921G>A
  • NM_001407684.1:c.3044G>A
  • NM_001407685.1:c.2918G>A
  • NM_001407686.1:c.2918G>A
  • NM_001407687.1:c.2918G>A
  • NM_001407688.1:c.2918G>A
  • NM_001407689.1:c.2918G>A
  • NM_001407690.1:c.2918G>A
  • NM_001407691.1:c.2918G>A
  • NM_001407692.1:c.2903G>A
  • NM_001407694.1:c.2903G>A
  • NM_001407695.1:c.2903G>A
  • NM_001407696.1:c.2903G>A
  • NM_001407697.1:c.2903G>A
  • NM_001407698.1:c.2903G>A
  • NM_001407724.1:c.2903G>A
  • NM_001407725.1:c.2903G>A
  • NM_001407726.1:c.2903G>A
  • NM_001407727.1:c.2903G>A
  • NM_001407728.1:c.2903G>A
  • NM_001407729.1:c.2903G>A
  • NM_001407730.1:c.2903G>A
  • NM_001407731.1:c.2903G>A
  • NM_001407732.1:c.2903G>A
  • NM_001407733.1:c.2903G>A
  • NM_001407734.1:c.2903G>A
  • NM_001407735.1:c.2903G>A
  • NM_001407736.1:c.2903G>A
  • NM_001407737.1:c.2903G>A
  • NM_001407738.1:c.2903G>A
  • NM_001407739.1:c.2903G>A
  • NM_001407740.1:c.2900G>A
  • NM_001407741.1:c.2900G>A
  • NM_001407742.1:c.2900G>A
  • NM_001407743.1:c.2900G>A
  • NM_001407744.1:c.2900G>A
  • NM_001407745.1:c.2900G>A
  • NM_001407746.1:c.2900G>A
  • NM_001407747.1:c.2900G>A
  • NM_001407748.1:c.2900G>A
  • NM_001407749.1:c.2900G>A
  • NM_001407750.1:c.2903G>A
  • NM_001407751.1:c.2903G>A
  • NM_001407752.1:c.2903G>A
  • NM_001407838.1:c.2900G>A
  • NM_001407839.1:c.2900G>A
  • NM_001407841.1:c.2900G>A
  • NM_001407842.1:c.2900G>A
  • NM_001407843.1:c.2900G>A
  • NM_001407844.1:c.2900G>A
  • NM_001407845.1:c.2900G>A
  • NM_001407846.1:c.2900G>A
  • NM_001407847.1:c.2900G>A
  • NM_001407848.1:c.2900G>A
  • NM_001407849.1:c.2900G>A
  • NM_001407850.1:c.2903G>A
  • NM_001407851.1:c.2903G>A
  • NM_001407852.1:c.2903G>A
  • NM_001407853.1:c.2831G>A
  • NM_001407854.1:c.3044G>A
  • NM_001407858.1:c.3044G>A
  • NM_001407859.1:c.3044G>A
  • NM_001407860.1:c.3041G>A
  • NM_001407861.1:c.3041G>A
  • NM_001407862.1:c.2843G>A
  • NM_001407863.1:c.2921G>A
  • NM_001407874.1:c.2840G>A
  • NM_001407875.1:c.2840G>A
  • NM_001407879.1:c.2834G>A
  • NM_001407881.1:c.2834G>A
  • NM_001407882.1:c.2834G>A
  • NM_001407884.1:c.2834G>A
  • NM_001407885.1:c.2834G>A
  • NM_001407886.1:c.2834G>A
  • NM_001407887.1:c.2834G>A
  • NM_001407889.1:c.2834G>A
  • NM_001407894.1:c.2831G>A
  • NM_001407895.1:c.2831G>A
  • NM_001407896.1:c.2831G>A
  • NM_001407897.1:c.2831G>A
  • NM_001407898.1:c.2831G>A
  • NM_001407899.1:c.2831G>A
  • NM_001407900.1:c.2834G>A
  • NM_001407902.1:c.2834G>A
  • NM_001407904.1:c.2834G>A
  • NM_001407906.1:c.2834G>A
  • NM_001407907.1:c.2834G>A
  • NM_001407908.1:c.2834G>A
  • NM_001407909.1:c.2834G>A
  • NM_001407910.1:c.2834G>A
  • NM_001407915.1:c.2831G>A
  • NM_001407916.1:c.2831G>A
  • NM_001407917.1:c.2831G>A
  • NM_001407918.1:c.2831G>A
  • NM_001407919.1:c.2921G>A
  • NM_001407920.1:c.2780G>A
  • NM_001407921.1:c.2780G>A
  • NM_001407922.1:c.2780G>A
  • NM_001407923.1:c.2780G>A
  • NM_001407924.1:c.2780G>A
  • NM_001407925.1:c.2780G>A
  • NM_001407926.1:c.2780G>A
  • NM_001407927.1:c.2780G>A
  • NM_001407928.1:c.2780G>A
  • NM_001407929.1:c.2780G>A
  • NM_001407930.1:c.2777G>A
  • NM_001407931.1:c.2777G>A
  • NM_001407932.1:c.2777G>A
  • NM_001407933.1:c.2780G>A
  • NM_001407934.1:c.2777G>A
  • NM_001407935.1:c.2780G>A
  • NM_001407936.1:c.2777G>A
  • NM_001407937.1:c.2921G>A
  • NM_001407938.1:c.2921G>A
  • NM_001407939.1:c.2921G>A
  • NM_001407940.1:c.2918G>A
  • NM_001407941.1:c.2918G>A
  • NM_001407942.1:c.2903G>A
  • NM_001407943.1:c.2900G>A
  • NM_001407944.1:c.2903G>A
  • NM_001407945.1:c.2903G>A
  • NM_001407946.1:c.2711G>A
  • NM_001407947.1:c.2711G>A
  • NM_001407948.1:c.2711G>A
  • NM_001407949.1:c.2711G>A
  • NM_001407950.1:c.2711G>A
  • NM_001407951.1:c.2711G>A
  • NM_001407952.1:c.2711G>A
  • NM_001407953.1:c.2711G>A
  • NM_001407954.1:c.2708G>A
  • NM_001407955.1:c.2708G>A
  • NM_001407956.1:c.2708G>A
  • NM_001407957.1:c.2711G>A
  • NM_001407958.1:c.2708G>A
  • NM_001407959.1:c.2663G>A
  • NM_001407960.1:c.2663G>A
  • NM_001407962.1:c.2660G>A
  • NM_001407963.1:c.2663G>A
  • NM_001407964.1:c.2900G>A
  • NM_001407965.1:c.2540G>A
  • NM_001407966.1:c.2156G>A
  • NM_001407967.1:c.2156G>A
  • NM_001407968.1:c.788-348G>A
  • NM_001407969.1:c.788-348G>A
  • NM_001407970.1:c.788-1455G>A
  • NM_001407971.1:c.788-1455G>A
  • NM_001407972.1:c.785-1455G>A
  • NM_001407973.1:c.788-1455G>A
  • NM_001407974.1:c.788-1455G>A
  • NM_001407975.1:c.788-1455G>A
  • NM_001407976.1:c.788-1455G>A
  • NM_001407977.1:c.788-1455G>A
  • NM_001407978.1:c.788-1455G>A
  • NM_001407979.1:c.788-1455G>A
  • NM_001407980.1:c.788-1455G>A
  • NM_001407981.1:c.788-1455G>A
  • NM_001407982.1:c.788-1455G>A
  • NM_001407983.1:c.788-1455G>A
  • NM_001407984.1:c.785-1455G>A
  • NM_001407985.1:c.785-1455G>A
  • NM_001407986.1:c.785-1455G>A
  • NM_001407990.1:c.788-1455G>A
  • NM_001407991.1:c.785-1455G>A
  • NM_001407992.1:c.785-1455G>A
  • NM_001407993.1:c.788-1455G>A
  • NM_001408392.1:c.785-1455G>A
  • NM_001408396.1:c.785-1455G>A
  • NM_001408397.1:c.785-1455G>A
  • NM_001408398.1:c.785-1455G>A
  • NM_001408399.1:c.785-1455G>A
  • NM_001408400.1:c.785-1455G>A
  • NM_001408401.1:c.785-1455G>A
  • NM_001408402.1:c.785-1455G>A
  • NM_001408403.1:c.788-1455G>A
  • NM_001408404.1:c.788-1455G>A
  • NM_001408406.1:c.791-1464G>A
  • NM_001408407.1:c.785-1455G>A
  • NM_001408408.1:c.779-1455G>A
  • NM_001408409.1:c.710-1455G>A
  • NM_001408410.1:c.647-1455G>A
  • NM_001408411.1:c.710-1455G>A
  • NM_001408412.1:c.710-1455G>A
  • NM_001408413.1:c.707-1455G>A
  • NM_001408414.1:c.710-1455G>A
  • NM_001408415.1:c.710-1455G>A
  • NM_001408416.1:c.707-1455G>A
  • NM_001408418.1:c.671-1455G>A
  • NM_001408419.1:c.671-1455G>A
  • NM_001408420.1:c.671-1455G>A
  • NM_001408421.1:c.668-1455G>A
  • NM_001408422.1:c.671-1455G>A
  • NM_001408423.1:c.671-1455G>A
  • NM_001408424.1:c.668-1455G>A
  • NM_001408425.1:c.665-1455G>A
  • NM_001408426.1:c.665-1455G>A
  • NM_001408427.1:c.665-1455G>A
  • NM_001408428.1:c.665-1455G>A
  • NM_001408429.1:c.665-1455G>A
  • NM_001408430.1:c.665-1455G>A
  • NM_001408431.1:c.668-1455G>A
  • NM_001408432.1:c.662-1455G>A
  • NM_001408433.1:c.662-1455G>A
  • NM_001408434.1:c.662-1455G>A
  • NM_001408435.1:c.662-1455G>A
  • NM_001408436.1:c.665-1455G>A
  • NM_001408437.1:c.665-1455G>A
  • NM_001408438.1:c.665-1455G>A
  • NM_001408439.1:c.665-1455G>A
  • NM_001408440.1:c.665-1455G>A
  • NM_001408441.1:c.665-1455G>A
  • NM_001408442.1:c.665-1455G>A
  • NM_001408443.1:c.665-1455G>A
  • NM_001408444.1:c.665-1455G>A
  • NM_001408445.1:c.662-1455G>A
  • NM_001408446.1:c.662-1455G>A
  • NM_001408447.1:c.662-1455G>A
  • NM_001408448.1:c.662-1455G>A
  • NM_001408450.1:c.662-1455G>A
  • NM_001408451.1:c.653-1455G>A
  • NM_001408452.1:c.647-1455G>A
  • NM_001408453.1:c.647-1455G>A
  • NM_001408454.1:c.647-1455G>A
  • NM_001408455.1:c.647-1455G>A
  • NM_001408456.1:c.647-1455G>A
  • NM_001408457.1:c.647-1455G>A
  • NM_001408458.1:c.647-1455G>A
  • NM_001408459.1:c.647-1455G>A
  • NM_001408460.1:c.647-1455G>A
  • NM_001408461.1:c.647-1455G>A
  • NM_001408462.1:c.644-1455G>A
  • NM_001408463.1:c.644-1455G>A
  • NM_001408464.1:c.644-1455G>A
  • NM_001408465.1:c.644-1455G>A
  • NM_001408466.1:c.647-1455G>A
  • NM_001408467.1:c.647-1455G>A
  • NM_001408468.1:c.644-1455G>A
  • NM_001408469.1:c.647-1455G>A
  • NM_001408470.1:c.644-1455G>A
  • NM_001408472.1:c.788-1455G>A
  • NM_001408473.1:c.785-1455G>A
  • NM_001408474.1:c.587-1455G>A
  • NM_001408475.1:c.584-1455G>A
  • NM_001408476.1:c.587-1455G>A
  • NM_001408478.1:c.578-1455G>A
  • NM_001408479.1:c.578-1455G>A
  • NM_001408480.1:c.578-1455G>A
  • NM_001408481.1:c.578-1455G>A
  • NM_001408482.1:c.578-1455G>A
  • NM_001408483.1:c.578-1455G>A
  • NM_001408484.1:c.578-1455G>A
  • NM_001408485.1:c.578-1455G>A
  • NM_001408489.1:c.578-1455G>A
  • NM_001408490.1:c.575-1455G>A
  • NM_001408491.1:c.575-1455G>A
  • NM_001408492.1:c.578-1455G>A
  • NM_001408493.1:c.575-1455G>A
  • NM_001408494.1:c.548-1455G>A
  • NM_001408495.1:c.545-1455G>A
  • NM_001408496.1:c.524-1455G>A
  • NM_001408497.1:c.524-1455G>A
  • NM_001408498.1:c.524-1455G>A
  • NM_001408499.1:c.524-1455G>A
  • NM_001408500.1:c.524-1455G>A
  • NM_001408501.1:c.524-1455G>A
  • NM_001408502.1:c.455-1455G>A
  • NM_001408503.1:c.521-1455G>A
  • NM_001408504.1:c.521-1455G>A
  • NM_001408505.1:c.521-1455G>A
  • NM_001408506.1:c.461-1455G>A
  • NM_001408507.1:c.461-1455G>A
  • NM_001408508.1:c.452-1455G>A
  • NM_001408509.1:c.452-1455G>A
  • NM_001408510.1:c.407-1455G>A
  • NM_001408511.1:c.404-1455G>A
  • NM_001408512.1:c.284-1455G>A
  • NM_001408513.1:c.578-1455G>A
  • NM_001408514.1:c.578-1455G>A
  • NM_007294.4:c.3044G>AMANE SELECT
  • NM_007297.4:c.2903G>A
  • NM_007298.4:c.788-1455G>A
  • NM_007299.4:c.788-1455G>A
  • NM_007300.4:c.3044G>A
  • NP_001394500.1:p.Gly944Glu
  • NP_001394510.1:p.Gly1015Glu
  • NP_001394511.1:p.Gly1015Glu
  • NP_001394512.1:p.Gly1015Glu
  • NP_001394514.1:p.Gly1015Glu
  • NP_001394516.1:p.Gly1014Glu
  • NP_001394519.1:p.Gly1014Glu
  • NP_001394520.1:p.Gly1014Glu
  • NP_001394522.1:p.Gly1015Glu
  • NP_001394523.1:p.Gly1015Glu
  • NP_001394525.1:p.Gly1015Glu
  • NP_001394526.1:p.Gly1015Glu
  • NP_001394527.1:p.Gly1015Glu
  • NP_001394531.1:p.Gly1015Glu
  • NP_001394532.1:p.Gly1015Glu
  • NP_001394534.1:p.Gly1015Glu
  • NP_001394539.1:p.Gly1014Glu
  • NP_001394540.1:p.Gly1014Glu
  • NP_001394541.1:p.Gly1014Glu
  • NP_001394542.1:p.Gly1014Glu
  • NP_001394543.1:p.Gly1014Glu
  • NP_001394544.1:p.Gly1014Glu
  • NP_001394545.1:p.Gly1015Glu
  • NP_001394546.1:p.Gly1015Glu
  • NP_001394547.1:p.Gly1015Glu
  • NP_001394548.1:p.Gly1015Glu
  • NP_001394549.1:p.Gly1015Glu
  • NP_001394550.1:p.Gly1015Glu
  • NP_001394551.1:p.Gly1015Glu
  • NP_001394552.1:p.Gly1015Glu
  • NP_001394553.1:p.Gly1015Glu
  • NP_001394554.1:p.Gly1015Glu
  • NP_001394555.1:p.Gly1015Glu
  • NP_001394556.1:p.Gly1014Glu
  • NP_001394557.1:p.Gly1014Glu
  • NP_001394558.1:p.Gly1014Glu
  • NP_001394559.1:p.Gly1014Glu
  • NP_001394560.1:p.Gly1014Glu
  • NP_001394561.1:p.Gly1014Glu
  • NP_001394562.1:p.Gly1014Glu
  • NP_001394563.1:p.Gly1014Glu
  • NP_001394564.1:p.Gly1014Glu
  • NP_001394565.1:p.Gly1014Glu
  • NP_001394566.1:p.Gly1014Glu
  • NP_001394567.1:p.Gly1014Glu
  • NP_001394568.1:p.Gly1015Glu
  • NP_001394569.1:p.Gly1015Glu
  • NP_001394570.1:p.Gly1015Glu
  • NP_001394571.1:p.Gly1015Glu
  • NP_001394573.1:p.Gly1014Glu
  • NP_001394574.1:p.Gly1014Glu
  • NP_001394575.1:p.Gly1012Glu
  • NP_001394576.1:p.Gly1012Glu
  • NP_001394577.1:p.Gly974Glu
  • NP_001394578.1:p.Gly973Glu
  • NP_001394581.1:p.Gly1015Glu
  • NP_001394582.1:p.Gly989Glu
  • NP_001394583.1:p.Gly989Glu
  • NP_001394584.1:p.Gly989Glu
  • NP_001394585.1:p.Gly989Glu
  • NP_001394586.1:p.Gly989Glu
  • NP_001394587.1:p.Gly989Glu
  • NP_001394588.1:p.Gly988Glu
  • NP_001394589.1:p.Gly988Glu
  • NP_001394590.1:p.Gly988Glu
  • NP_001394591.1:p.Gly988Glu
  • NP_001394592.1:p.Gly989Glu
  • NP_001394593.1:p.Gly974Glu
  • NP_001394594.1:p.Gly974Glu
  • NP_001394595.1:p.Gly974Glu
  • NP_001394596.1:p.Gly974Glu
  • NP_001394597.1:p.Gly974Glu
  • NP_001394598.1:p.Gly974Glu
  • NP_001394599.1:p.Gly973Glu
  • NP_001394600.1:p.Gly973Glu
  • NP_001394601.1:p.Gly973Glu
  • NP_001394602.1:p.Gly973Glu
  • NP_001394603.1:p.Gly974Glu
  • NP_001394604.1:p.Gly974Glu
  • NP_001394605.1:p.Gly974Glu
  • NP_001394606.1:p.Gly974Glu
  • NP_001394607.1:p.Gly974Glu
  • NP_001394608.1:p.Gly974Glu
  • NP_001394609.1:p.Gly974Glu
  • NP_001394610.1:p.Gly974Glu
  • NP_001394611.1:p.Gly974Glu
  • NP_001394612.1:p.Gly974Glu
  • NP_001394613.1:p.Gly1015Glu
  • NP_001394614.1:p.Gly973Glu
  • NP_001394615.1:p.Gly973Glu
  • NP_001394616.1:p.Gly973Glu
  • NP_001394617.1:p.Gly973Glu
  • NP_001394618.1:p.Gly973Glu
  • NP_001394619.1:p.Gly973Glu
  • NP_001394620.1:p.Gly973Glu
  • NP_001394621.1:p.Gly968Glu
  • NP_001394623.1:p.Gly968Glu
  • NP_001394624.1:p.Gly968Glu
  • NP_001394625.1:p.Gly968Glu
  • NP_001394626.1:p.Gly968Glu
  • NP_001394627.1:p.Gly968Glu
  • NP_001394653.1:p.Gly968Glu
  • NP_001394654.1:p.Gly968Glu
  • NP_001394655.1:p.Gly968Glu
  • NP_001394656.1:p.Gly968Glu
  • NP_001394657.1:p.Gly968Glu
  • NP_001394658.1:p.Gly968Glu
  • NP_001394659.1:p.Gly968Glu
  • NP_001394660.1:p.Gly968Glu
  • NP_001394661.1:p.Gly968Glu
  • NP_001394662.1:p.Gly968Glu
  • NP_001394663.1:p.Gly968Glu
  • NP_001394664.1:p.Gly968Glu
  • NP_001394665.1:p.Gly968Glu
  • NP_001394666.1:p.Gly968Glu
  • NP_001394667.1:p.Gly968Glu
  • NP_001394668.1:p.Gly968Glu
  • NP_001394669.1:p.Gly967Glu
  • NP_001394670.1:p.Gly967Glu
  • NP_001394671.1:p.Gly967Glu
  • NP_001394672.1:p.Gly967Glu
  • NP_001394673.1:p.Gly967Glu
  • NP_001394674.1:p.Gly967Glu
  • NP_001394675.1:p.Gly967Glu
  • NP_001394676.1:p.Gly967Glu
  • NP_001394677.1:p.Gly967Glu
  • NP_001394678.1:p.Gly967Glu
  • NP_001394679.1:p.Gly968Glu
  • NP_001394680.1:p.Gly968Glu
  • NP_001394681.1:p.Gly968Glu
  • NP_001394767.1:p.Gly967Glu
  • NP_001394768.1:p.Gly967Glu
  • NP_001394770.1:p.Gly967Glu
  • NP_001394771.1:p.Gly967Glu
  • NP_001394772.1:p.Gly967Glu
  • NP_001394773.1:p.Gly967Glu
  • NP_001394774.1:p.Gly967Glu
  • NP_001394775.1:p.Gly967Glu
  • NP_001394776.1:p.Gly967Glu
  • NP_001394777.1:p.Gly967Glu
  • NP_001394778.1:p.Gly967Glu
  • NP_001394779.1:p.Gly968Glu
  • NP_001394780.1:p.Gly968Glu
  • NP_001394781.1:p.Gly968Glu
  • NP_001394782.1:p.Gly944Glu
  • NP_001394783.1:p.Gly1015Glu
  • NP_001394787.1:p.Gly1015Glu
  • NP_001394788.1:p.Gly1015Glu
  • NP_001394789.1:p.Gly1014Glu
  • NP_001394790.1:p.Gly1014Glu
  • NP_001394791.1:p.Gly948Glu
  • NP_001394792.1:p.Gly974Glu
  • NP_001394803.1:p.Gly947Glu
  • NP_001394804.1:p.Gly947Glu
  • NP_001394808.1:p.Gly945Glu
  • NP_001394810.1:p.Gly945Glu
  • NP_001394811.1:p.Gly945Glu
  • NP_001394813.1:p.Gly945Glu
  • NP_001394814.1:p.Gly945Glu
  • NP_001394815.1:p.Gly945Glu
  • NP_001394816.1:p.Gly945Glu
  • NP_001394818.1:p.Gly945Glu
  • NP_001394823.1:p.Gly944Glu
  • NP_001394824.1:p.Gly944Glu
  • NP_001394825.1:p.Gly944Glu
  • NP_001394826.1:p.Gly944Glu
  • NP_001394827.1:p.Gly944Glu
  • NP_001394828.1:p.Gly944Glu
  • NP_001394829.1:p.Gly945Glu
  • NP_001394831.1:p.Gly945Glu
  • NP_001394833.1:p.Gly945Glu
  • NP_001394835.1:p.Gly945Glu
  • NP_001394836.1:p.Gly945Glu
  • NP_001394837.1:p.Gly945Glu
  • NP_001394838.1:p.Gly945Glu
  • NP_001394839.1:p.Gly945Glu
  • NP_001394844.1:p.Gly944Glu
  • NP_001394845.1:p.Gly944Glu
  • NP_001394846.1:p.Gly944Glu
  • NP_001394847.1:p.Gly944Glu
  • NP_001394848.1:p.Gly974Glu
  • NP_001394849.1:p.Gly927Glu
  • NP_001394850.1:p.Gly927Glu
  • NP_001394851.1:p.Gly927Glu
  • NP_001394852.1:p.Gly927Glu
  • NP_001394853.1:p.Gly927Glu
  • NP_001394854.1:p.Gly927Glu
  • NP_001394855.1:p.Gly927Glu
  • NP_001394856.1:p.Gly927Glu
  • NP_001394857.1:p.Gly927Glu
  • NP_001394858.1:p.Gly927Glu
  • NP_001394859.1:p.Gly926Glu
  • NP_001394860.1:p.Gly926Glu
  • NP_001394861.1:p.Gly926Glu
  • NP_001394862.1:p.Gly927Glu
  • NP_001394863.1:p.Gly926Glu
  • NP_001394864.1:p.Gly927Glu
  • NP_001394865.1:p.Gly926Glu
  • NP_001394866.1:p.Gly974Glu
  • NP_001394867.1:p.Gly974Glu
  • NP_001394868.1:p.Gly974Glu
  • NP_001394869.1:p.Gly973Glu
  • NP_001394870.1:p.Gly973Glu
  • NP_001394871.1:p.Gly968Glu
  • NP_001394872.1:p.Gly967Glu
  • NP_001394873.1:p.Gly968Glu
  • NP_001394874.1:p.Gly968Glu
  • NP_001394875.1:p.Gly904Glu
  • NP_001394876.1:p.Gly904Glu
  • NP_001394877.1:p.Gly904Glu
  • NP_001394878.1:p.Gly904Glu
  • NP_001394879.1:p.Gly904Glu
  • NP_001394880.1:p.Gly904Glu
  • NP_001394881.1:p.Gly904Glu
  • NP_001394882.1:p.Gly904Glu
  • NP_001394883.1:p.Gly903Glu
  • NP_001394884.1:p.Gly903Glu
  • NP_001394885.1:p.Gly903Glu
  • NP_001394886.1:p.Gly904Glu
  • NP_001394887.1:p.Gly903Glu
  • NP_001394888.1:p.Gly888Glu
  • NP_001394889.1:p.Gly888Glu
  • NP_001394891.1:p.Gly887Glu
  • NP_001394892.1:p.Gly888Glu
  • NP_001394893.1:p.Gly967Glu
  • NP_001394894.1:p.Gly847Glu
  • NP_001394895.1:p.Gly719Glu
  • NP_001394896.1:p.Gly719Glu
  • NP_009225.1:p.Gly1015Glu
  • NP_009225.1:p.Gly1015Glu
  • NP_009228.2:p.Gly968Glu
  • NP_009231.2:p.Gly1015Glu
  • LRG_292t1:c.3044G>A
  • LRG_292:g.125497G>A
  • LRG_292p1:p.Gly1015Glu
  • NC_000017.10:g.41244504C>T
  • NM_007294.3:c.3044G>A
  • NR_027676.2:n.3221G>A
Protein change:
G1012E
Molecular consequence:
  • NM_001407968.1:c.788-348G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.788-348G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.788-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.788-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.785-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.788-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.788-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.788-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.788-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.788-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.788-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.788-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.788-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.788-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.788-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.788-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.785-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.785-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.785-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.788-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.785-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.785-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.788-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.785-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.785-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.785-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.785-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.785-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.785-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.785-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.785-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.788-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.788-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.791-1464G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.785-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.779-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.710-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.647-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.710-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.710-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.707-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.710-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.710-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.707-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.665-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.665-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.665-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.665-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.665-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.665-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.662-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.662-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.662-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.662-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.665-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.665-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.665-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.665-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.665-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.665-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.665-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.665-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.665-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.662-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.662-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.662-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.662-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.662-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.653-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.647-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.647-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.647-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.647-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.647-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.647-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.647-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.647-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.647-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.647-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.644-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.644-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.644-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.644-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.647-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.647-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.644-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.647-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.644-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.788-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.785-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.587-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.584-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.587-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.578-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.578-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.578-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.578-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.578-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.578-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.578-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.578-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.578-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.575-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.575-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.578-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.575-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.524-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.524-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.524-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.524-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.524-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.524-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.455-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.521-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.521-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.521-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.452-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.452-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.407-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.284-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.578-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.578-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.788-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.788-1455G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.2831G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.3044G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.3044G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.3044G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.3044G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.3041G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.3041G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.3041G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.3044G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.3044G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.3044G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.3044G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.3044G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.3044G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.3044G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.3044G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.3041G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.3041G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.3041G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.3041G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.3041G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.3041G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.3044G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.3044G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.3044G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.3044G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.3044G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.3044G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.3044G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.3044G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.3044G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.3044G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.3044G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.3041G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.3041G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.3041G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.3041G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.3041G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.3041G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.3041G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.3041G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.3041G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.3041G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.3041G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.3041G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.3044G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.3044G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.3044G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.3044G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.3041G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.3041G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.3035G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.3035G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.2921G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.2918G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.3044G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.2966G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.2966G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.2966G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.2966G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.2966G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.2966G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.2963G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.2963G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.2963G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.2963G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.2966G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.2921G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.2921G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.2921G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.2921G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.2921G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.2921G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.2918G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.2918G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.2918G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.2918G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.2921G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.2921G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.2921G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.2921G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.2921G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.2921G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.2921G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.2921G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.2921G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.2921G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.3044G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.2918G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.2918G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.2918G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.2918G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.2918G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.2918G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.2918G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.2903G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.2903G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.2903G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.2903G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.2903G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.2903G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.2903G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.2903G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.2903G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.2903G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.2903G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.2903G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.2903G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.2903G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.2903G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.2903G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.2903G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.2903G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.2903G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.2903G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.2903G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.2903G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.2900G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.2900G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.2900G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.2900G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.2900G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.2900G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.2900G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.2900G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.2900G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.2900G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.2903G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.2903G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.2903G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.2900G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.2900G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.2900G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.2900G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.2900G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.2900G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.2900G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.2900G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.2900G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.2900G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.2900G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.2903G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.2903G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.2903G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.2831G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.3044G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.3044G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.3044G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.3041G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.3041G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.2843G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.2921G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.2840G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.2840G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.2834G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.2834G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.2834G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.2834G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.2834G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.2834G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.2834G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.2834G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.2831G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.2831G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.2831G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.2831G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.2831G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.2831G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.2834G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.2834G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.2834G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.2834G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.2834G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.2834G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.2834G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.2834G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.2831G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.2831G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.2831G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.2831G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.2921G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.2780G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.2780G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.2780G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.2780G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.2780G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.2780G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.2780G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.2780G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.2780G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.2780G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.2777G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.2777G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.2777G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.2780G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.2777G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.2780G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.2777G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.2921G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.2921G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.2921G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.2918G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.2918G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.2903G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.2900G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.2903G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.2903G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.2711G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.2711G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.2711G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.2711G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.2711G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.2711G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.2711G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.2711G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.2708G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.2708G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.2708G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.2711G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.2708G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.2663G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.2663G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.2660G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.2663G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.2900G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.2540G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.2156G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.2156G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.3044G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.2903G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.3044G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

Recent activity

Clear Turn Off Turn On
  • RecName: Full=Glycoprotein hormones alpha chain; AltName: Full=Anterior pituitar...
    RecName: Full=Glycoprotein hormones alpha chain; AltName: Full=Anterior pituitary glycoprotein hormones common subunit alpha; AltName: Full=Follicle-stimulating hormone alpha chain; Short=FSH-alpha; AltName: Full=Follitropin alpha chain; AltName: Full=Luteinizing hormone alpha chain; Short=LSH-alpha; AltName: Full=Lutropin alpha chain; AltName: Full=Thyroid-stimulating hormone alpha chain; Short=TSH-alpha; AltName: Full=Thyrotropin alpha chain; Flags: Precursor
    gi|82654937|sp|P07474.2|GLHA_RABIT
    Protein

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005026033Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 18, 2023) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV005026033.1

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

Description

The p.G1015E variant (also known as c.3044G>A), located in coding exon 9 of the BRCA1 gene, results from a G to A substitution at nucleotide position 3044. The glycine at codon 1015 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024