NM_007294.4(BRCA1):c.386G>A (p.Gly129Asp) AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 27, 2017
- Review status:
- 1 star out of maximum of 4 starscriteria provided, single submitter
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV002355600.2
Allele description [Variation Report for NM_007294.4(BRCA1):c.386G>A (p.Gly129Asp)]
NM_007294.4(BRCA1):c.386G>A (p.Gly129Asp)
- 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.386G>A (p.Gly129Asp)
- HGVS:
- NC_000017.11:g.43104177C>T
- NG_005905.2:g.113807G>A
- NM_001407571.1:c.176G>A
- NM_001407581.1:c.386G>A
- NM_001407582.1:c.386G>A
- NM_001407583.1:c.386G>A
- NM_001407585.1:c.386G>A
- NM_001407587.1:c.386G>A
- NM_001407590.1:c.386G>A
- NM_001407591.1:c.386G>A
- NM_001407593.1:c.386G>A
- NM_001407594.1:c.386G>A
- NM_001407596.1:c.386G>A
- NM_001407597.1:c.386G>A
- NM_001407598.1:c.386G>A
- NM_001407602.1:c.386G>A
- NM_001407603.1:c.386G>A
- NM_001407605.1:c.386G>A
- NM_001407610.1:c.386G>A
- NM_001407611.1:c.386G>A
- NM_001407612.1:c.386G>A
- NM_001407613.1:c.386G>A
- NM_001407614.1:c.386G>A
- NM_001407615.1:c.386G>A
- NM_001407616.1:c.386G>A
- NM_001407617.1:c.386G>A
- NM_001407618.1:c.386G>A
- NM_001407619.1:c.386G>A
- NM_001407620.1:c.386G>A
- NM_001407621.1:c.386G>A
- NM_001407622.1:c.386G>A
- NM_001407623.1:c.386G>A
- NM_001407624.1:c.386G>A
- NM_001407625.1:c.386G>A
- NM_001407626.1:c.386G>A
- NM_001407627.1:c.386G>A
- NM_001407628.1:c.386G>A
- NM_001407629.1:c.386G>A
- NM_001407630.1:c.386G>A
- NM_001407631.1:c.386G>A
- NM_001407632.1:c.386G>A
- NM_001407633.1:c.386G>A
- NM_001407634.1:c.386G>A
- NM_001407635.1:c.386G>A
- NM_001407636.1:c.386G>A
- NM_001407637.1:c.386G>A
- NM_001407638.1:c.386G>A
- NM_001407639.1:c.386G>A
- NM_001407640.1:c.386G>A
- NM_001407641.1:c.386G>A
- NM_001407642.1:c.386G>A
- NM_001407644.1:c.386G>A
- NM_001407645.1:c.386G>A
- NM_001407646.1:c.377G>A
- NM_001407647.1:c.377G>A
- NM_001407648.1:c.386G>A
- NM_001407649.1:c.386G>A
- NM_001407652.1:c.386G>A
- NM_001407653.1:c.308G>A
- NM_001407654.1:c.308G>A
- NM_001407655.1:c.308G>A
- NM_001407656.1:c.308G>A
- NM_001407657.1:c.308G>A
- NM_001407658.1:c.308G>A
- NM_001407659.1:c.308G>A
- NM_001407660.1:c.308G>A
- NM_001407661.1:c.308G>A
- NM_001407662.1:c.308G>A
- NM_001407663.1:c.308G>A
- NM_001407664.1:c.386G>A
- NM_001407665.1:c.386G>A
- NM_001407666.1:c.386G>A
- NM_001407667.1:c.386G>A
- NM_001407668.1:c.386G>A
- NM_001407669.1:c.386G>A
- NM_001407670.1:c.386G>A
- NM_001407671.1:c.386G>A
- NM_001407672.1:c.386G>A
- NM_001407673.1:c.386G>A
- NM_001407674.1:c.386G>A
- NM_001407675.1:c.386G>A
- NM_001407676.1:c.386G>A
- NM_001407677.1:c.386G>A
- NM_001407678.1:c.386G>A
- NM_001407679.1:c.386G>A
- NM_001407680.1:c.386G>A
- NM_001407681.1:c.386G>A
- NM_001407682.1:c.386G>A
- NM_001407683.1:c.386G>A
- NM_001407684.1:c.386G>A
- NM_001407685.1:c.386G>A
- NM_001407686.1:c.386G>A
- NM_001407687.1:c.386G>A
- NM_001407688.1:c.386G>A
- NM_001407689.1:c.386G>A
- NM_001407690.1:c.386G>A
- NM_001407691.1:c.386G>A
- NM_001407692.1:c.245G>A
- NM_001407694.1:c.245G>A
- NM_001407695.1:c.245G>A
- NM_001407696.1:c.245G>A
- NM_001407697.1:c.245G>A
- NM_001407698.1:c.245G>A
- NM_001407724.1:c.245G>A
- NM_001407725.1:c.245G>A
- NM_001407726.1:c.245G>A
- NM_001407727.1:c.245G>A
- NM_001407728.1:c.245G>A
- NM_001407729.1:c.245G>A
- NM_001407730.1:c.245G>A
- NM_001407731.1:c.245G>A
- NM_001407732.1:c.245G>A
- NM_001407733.1:c.245G>A
- NM_001407734.1:c.245G>A
- NM_001407735.1:c.245G>A
- NM_001407736.1:c.245G>A
- NM_001407737.1:c.245G>A
- NM_001407738.1:c.245G>A
- NM_001407739.1:c.245G>A
- NM_001407740.1:c.245G>A
- NM_001407741.1:c.245G>A
- NM_001407742.1:c.245G>A
- NM_001407743.1:c.245G>A
- NM_001407744.1:c.245G>A
- NM_001407745.1:c.245G>A
- NM_001407746.1:c.245G>A
- NM_001407747.1:c.245G>A
- NM_001407748.1:c.245G>A
- NM_001407749.1:c.245G>A
- NM_001407750.1:c.245G>A
- NM_001407751.1:c.245G>A
- NM_001407752.1:c.245G>A
- NM_001407838.1:c.245G>A
- NM_001407839.1:c.245G>A
- NM_001407841.1:c.245G>A
- NM_001407842.1:c.245G>A
- NM_001407843.1:c.245G>A
- NM_001407844.1:c.245G>A
- NM_001407845.1:c.245G>A
- NM_001407846.1:c.245G>A
- NM_001407847.1:c.245G>A
- NM_001407848.1:c.245G>A
- NM_001407849.1:c.245G>A
- NM_001407850.1:c.245G>A
- NM_001407851.1:c.245G>A
- NM_001407852.1:c.245G>A
- NM_001407853.1:c.176G>A
- NM_001407854.1:c.386G>A
- NM_001407858.1:c.386G>A
- NM_001407859.1:c.386G>A
- NM_001407860.1:c.386G>A
- NM_001407861.1:c.386G>A
- NM_001407862.1:c.308G>A
- NM_001407863.1:c.386G>A
- NM_001407874.1:c.308G>A
- NM_001407875.1:c.308G>A
- NM_001407879.1:c.176G>A
- NM_001407881.1:c.176G>A
- NM_001407882.1:c.176G>A
- NM_001407884.1:c.176G>A
- NM_001407885.1:c.176G>A
- NM_001407886.1:c.176G>A
- NM_001407887.1:c.176G>A
- NM_001407889.1:c.176G>A
- NM_001407894.1:c.176G>A
- NM_001407895.1:c.176G>A
- NM_001407896.1:c.176G>A
- NM_001407897.1:c.176G>A
- NM_001407898.1:c.176G>A
- NM_001407899.1:c.176G>A
- NM_001407900.1:c.176G>A
- NM_001407902.1:c.176G>A
- NM_001407904.1:c.176G>A
- NM_001407906.1:c.176G>A
- NM_001407907.1:c.176G>A
- NM_001407908.1:c.176G>A
- NM_001407909.1:c.176G>A
- NM_001407910.1:c.176G>A
- NM_001407915.1:c.176G>A
- NM_001407916.1:c.176G>A
- NM_001407917.1:c.176G>A
- NM_001407918.1:c.176G>A
- NM_001407919.1:c.386G>A
- NM_001407920.1:c.245G>A
- NM_001407921.1:c.245G>A
- NM_001407922.1:c.245G>A
- NM_001407923.1:c.245G>A
- NM_001407924.1:c.245G>A
- NM_001407925.1:c.245G>A
- NM_001407926.1:c.245G>A
- NM_001407927.1:c.245G>A
- NM_001407928.1:c.245G>A
- NM_001407929.1:c.245G>A
- NM_001407930.1:c.245G>A
- NM_001407931.1:c.245G>A
- NM_001407932.1:c.245G>A
- NM_001407933.1:c.245G>A
- NM_001407934.1:c.245G>A
- NM_001407935.1:c.245G>A
- NM_001407936.1:c.245G>A
- NM_001407937.1:c.386G>A
- NM_001407938.1:c.386G>A
- NM_001407939.1:c.386G>A
- NM_001407940.1:c.386G>A
- NM_001407941.1:c.386G>A
- NM_001407942.1:c.245G>A
- NM_001407943.1:c.245G>A
- NM_001407944.1:c.245G>A
- NM_001407945.1:c.245G>A
- NM_001407946.1:c.176G>A
- NM_001407947.1:c.176G>A
- NM_001407948.1:c.176G>A
- NM_001407949.1:c.176G>A
- NM_001407950.1:c.176G>A
- NM_001407951.1:c.176G>A
- NM_001407952.1:c.176G>A
- NM_001407953.1:c.176G>A
- NM_001407954.1:c.176G>A
- NM_001407955.1:c.176G>A
- NM_001407956.1:c.176G>A
- NM_001407957.1:c.176G>A
- NM_001407958.1:c.176G>A
- NM_001407959.1:c.5G>A
- NM_001407960.1:c.5G>A
- NM_001407962.1:c.5G>A
- NM_001407963.1:c.5G>A
- NM_001407964.1:c.245G>A
- NM_001407965.1:c.5G>A
- NM_001407968.1:c.386G>A
- NM_001407969.1:c.386G>A
- NM_001407970.1:c.386G>A
- NM_001407971.1:c.386G>A
- NM_001407972.1:c.386G>A
- NM_001407973.1:c.386G>A
- NM_001407974.1:c.386G>A
- NM_001407975.1:c.386G>A
- NM_001407976.1:c.386G>A
- NM_001407977.1:c.386G>A
- NM_001407978.1:c.386G>A
- NM_001407979.1:c.386G>A
- NM_001407980.1:c.386G>A
- NM_001407981.1:c.386G>A
- NM_001407982.1:c.386G>A
- NM_001407983.1:c.386G>A
- NM_001407984.1:c.386G>A
- NM_001407985.1:c.386G>A
- NM_001407986.1:c.386G>A
- NM_001407990.1:c.386G>A
- NM_001407991.1:c.386G>A
- NM_001407992.1:c.386G>A
- NM_001407993.1:c.386G>A
- NM_001408392.1:c.386G>A
- NM_001408396.1:c.386G>A
- NM_001408397.1:c.386G>A
- NM_001408398.1:c.386G>A
- NM_001408399.1:c.386G>A
- NM_001408400.1:c.386G>A
- NM_001408401.1:c.386G>A
- NM_001408402.1:c.386G>A
- NM_001408403.1:c.386G>A
- NM_001408404.1:c.386G>A
- NM_001408406.1:c.386G>A
- NM_001408407.1:c.386G>A
- NM_001408408.1:c.377G>A
- NM_001408409.1:c.308G>A
- NM_001408410.1:c.245G>A
- NM_001408411.1:c.308G>A
- NM_001408412.1:c.308G>A
- NM_001408413.1:c.308G>A
- NM_001408414.1:c.308G>A
- NM_001408415.1:c.308G>A
- NM_001408416.1:c.308G>A
- NM_001408418.1:c.386G>A
- NM_001408419.1:c.386G>A
- NM_001408420.1:c.386G>A
- NM_001408421.1:c.386G>A
- NM_001408422.1:c.386G>A
- NM_001408423.1:c.386G>A
- NM_001408424.1:c.386G>A
- NM_001408425.1:c.386G>A
- NM_001408426.1:c.386G>A
- NM_001408427.1:c.386G>A
- NM_001408428.1:c.386G>A
- NM_001408429.1:c.386G>A
- NM_001408430.1:c.386G>A
- NM_001408431.1:c.386G>A
- NM_001408432.1:c.386G>A
- NM_001408433.1:c.386G>A
- NM_001408434.1:c.386G>A
- NM_001408435.1:c.386G>A
- NM_001408436.1:c.386G>A
- NM_001408437.1:c.386G>A
- NM_001408438.1:c.386G>A
- NM_001408439.1:c.386G>A
- NM_001408440.1:c.386G>A
- NM_001408441.1:c.386G>A
- NM_001408442.1:c.386G>A
- NM_001408443.1:c.386G>A
- NM_001408444.1:c.386G>A
- NM_001408445.1:c.386G>A
- NM_001408446.1:c.386G>A
- NM_001408447.1:c.386G>A
- NM_001408448.1:c.386G>A
- NM_001408450.1:c.386G>A
- NM_001408451.1:c.254G>A
- NM_001408452.1:c.245G>A
- NM_001408453.1:c.245G>A
- NM_001408454.1:c.245G>A
- NM_001408455.1:c.245G>A
- NM_001408456.1:c.245G>A
- NM_001408457.1:c.245G>A
- NM_001408458.1:c.245G>A
- NM_001408459.1:c.245G>A
- NM_001408460.1:c.245G>A
- NM_001408461.1:c.245G>A
- NM_001408462.1:c.245G>A
- NM_001408463.1:c.245G>A
- NM_001408464.1:c.245G>A
- NM_001408465.1:c.245G>A
- NM_001408466.1:c.245G>A
- NM_001408467.1:c.245G>A
- NM_001408468.1:c.245G>A
- NM_001408469.1:c.245G>A
- NM_001408470.1:c.245G>A
- NM_001408472.1:c.386G>A
- NM_001408473.1:c.386G>A
- NM_001408474.1:c.308G>A
- NM_001408475.1:c.308G>A
- NM_001408476.1:c.308G>A
- NM_001408478.1:c.176G>A
- NM_001408479.1:c.176G>A
- NM_001408480.1:c.176G>A
- NM_001408481.1:c.176G>A
- NM_001408482.1:c.176G>A
- NM_001408483.1:c.176G>A
- NM_001408484.1:c.176G>A
- NM_001408485.1:c.176G>A
- NM_001408489.1:c.176G>A
- NM_001408490.1:c.176G>A
- NM_001408491.1:c.176G>A
- NM_001408492.1:c.176G>A
- NM_001408493.1:c.176G>A
- NM_001408494.1:c.386G>A
- NM_001408495.1:c.386G>A
- NM_001408496.1:c.245G>A
- NM_001408497.1:c.245G>A
- NM_001408498.1:c.245G>A
- NM_001408499.1:c.245G>A
- NM_001408500.1:c.245G>A
- NM_001408501.1:c.245G>A
- NM_001408502.1:c.176G>A
- NM_001408503.1:c.245G>A
- NM_001408504.1:c.245G>A
- NM_001408505.1:c.245G>A
- NM_001408506.1:c.176G>A
- NM_001408507.1:c.176G>A
- NM_001408508.1:c.176G>A
- NM_001408509.1:c.176G>A
- NM_001408510.1:c.5G>A
- NM_001408511.1:c.245G>A
- NM_001408512.1:c.5G>A
- NM_001408513.1:c.176G>A
- NM_001408514.1:c.176G>A
- NM_007294.4:c.386G>AMANE SELECT
- NM_007297.4:c.245G>A
- NM_007298.4:c.386G>A
- NM_007299.4:c.386G>A
- NM_007300.4:c.386G>A
- NM_007304.2:c.386G>A
- NP_001394500.1:p.Gly59Asp
- NP_001394510.1:p.Gly129Asp
- NP_001394511.1:p.Gly129Asp
- NP_001394512.1:p.Gly129Asp
- NP_001394514.1:p.Gly129Asp
- NP_001394516.1:p.Gly129Asp
- NP_001394519.1:p.Gly129Asp
- NP_001394520.1:p.Gly129Asp
- NP_001394522.1:p.Gly129Asp
- NP_001394523.1:p.Gly129Asp
- NP_001394525.1:p.Gly129Asp
- NP_001394526.1:p.Gly129Asp
- NP_001394527.1:p.Gly129Asp
- NP_001394531.1:p.Gly129Asp
- NP_001394532.1:p.Gly129Asp
- NP_001394534.1:p.Gly129Asp
- NP_001394539.1:p.Gly129Asp
- NP_001394540.1:p.Gly129Asp
- NP_001394541.1:p.Gly129Asp
- NP_001394542.1:p.Gly129Asp
- NP_001394543.1:p.Gly129Asp
- NP_001394544.1:p.Gly129Asp
- NP_001394545.1:p.Gly129Asp
- NP_001394546.1:p.Gly129Asp
- NP_001394547.1:p.Gly129Asp
- NP_001394548.1:p.Gly129Asp
- NP_001394549.1:p.Gly129Asp
- NP_001394550.1:p.Gly129Asp
- NP_001394551.1:p.Gly129Asp
- NP_001394552.1:p.Gly129Asp
- NP_001394553.1:p.Gly129Asp
- NP_001394554.1:p.Gly129Asp
- NP_001394555.1:p.Gly129Asp
- NP_001394556.1:p.Gly129Asp
- NP_001394557.1:p.Gly129Asp
- NP_001394558.1:p.Gly129Asp
- NP_001394559.1:p.Gly129Asp
- NP_001394560.1:p.Gly129Asp
- NP_001394561.1:p.Gly129Asp
- NP_001394562.1:p.Gly129Asp
- NP_001394563.1:p.Gly129Asp
- NP_001394564.1:p.Gly129Asp
- NP_001394565.1:p.Gly129Asp
- NP_001394566.1:p.Gly129Asp
- NP_001394567.1:p.Gly129Asp
- NP_001394568.1:p.Gly129Asp
- NP_001394569.1:p.Gly129Asp
- NP_001394570.1:p.Gly129Asp
- NP_001394571.1:p.Gly129Asp
- NP_001394573.1:p.Gly129Asp
- NP_001394574.1:p.Gly129Asp
- NP_001394575.1:p.Gly126Asp
- NP_001394576.1:p.Gly126Asp
- NP_001394577.1:p.Gly129Asp
- NP_001394578.1:p.Gly129Asp
- NP_001394581.1:p.Gly129Asp
- NP_001394582.1:p.Gly103Asp
- NP_001394583.1:p.Gly103Asp
- NP_001394584.1:p.Gly103Asp
- NP_001394585.1:p.Gly103Asp
- NP_001394586.1:p.Gly103Asp
- NP_001394587.1:p.Gly103Asp
- NP_001394588.1:p.Gly103Asp
- NP_001394589.1:p.Gly103Asp
- NP_001394590.1:p.Gly103Asp
- NP_001394591.1:p.Gly103Asp
- NP_001394592.1:p.Gly103Asp
- NP_001394593.1:p.Gly129Asp
- NP_001394594.1:p.Gly129Asp
- NP_001394595.1:p.Gly129Asp
- NP_001394596.1:p.Gly129Asp
- NP_001394597.1:p.Gly129Asp
- NP_001394598.1:p.Gly129Asp
- NP_001394599.1:p.Gly129Asp
- NP_001394600.1:p.Gly129Asp
- NP_001394601.1:p.Gly129Asp
- NP_001394602.1:p.Gly129Asp
- NP_001394603.1:p.Gly129Asp
- NP_001394604.1:p.Gly129Asp
- NP_001394605.1:p.Gly129Asp
- NP_001394606.1:p.Gly129Asp
- NP_001394607.1:p.Gly129Asp
- NP_001394608.1:p.Gly129Asp
- NP_001394609.1:p.Gly129Asp
- NP_001394610.1:p.Gly129Asp
- NP_001394611.1:p.Gly129Asp
- NP_001394612.1:p.Gly129Asp
- NP_001394613.1:p.Gly129Asp
- NP_001394614.1:p.Gly129Asp
- NP_001394615.1:p.Gly129Asp
- NP_001394616.1:p.Gly129Asp
- NP_001394617.1:p.Gly129Asp
- NP_001394618.1:p.Gly129Asp
- NP_001394619.1:p.Gly129Asp
- NP_001394620.1:p.Gly129Asp
- NP_001394621.1:p.Gly82Asp
- NP_001394623.1:p.Gly82Asp
- NP_001394624.1:p.Gly82Asp
- NP_001394625.1:p.Gly82Asp
- NP_001394626.1:p.Gly82Asp
- NP_001394627.1:p.Gly82Asp
- NP_001394653.1:p.Gly82Asp
- NP_001394654.1:p.Gly82Asp
- NP_001394655.1:p.Gly82Asp
- NP_001394656.1:p.Gly82Asp
- NP_001394657.1:p.Gly82Asp
- NP_001394658.1:p.Gly82Asp
- NP_001394659.1:p.Gly82Asp
- NP_001394660.1:p.Gly82Asp
- NP_001394661.1:p.Gly82Asp
- NP_001394662.1:p.Gly82Asp
- NP_001394663.1:p.Gly82Asp
- NP_001394664.1:p.Gly82Asp
- NP_001394665.1:p.Gly82Asp
- NP_001394666.1:p.Gly82Asp
- NP_001394667.1:p.Gly82Asp
- NP_001394668.1:p.Gly82Asp
- NP_001394669.1:p.Gly82Asp
- NP_001394670.1:p.Gly82Asp
- NP_001394671.1:p.Gly82Asp
- NP_001394672.1:p.Gly82Asp
- NP_001394673.1:p.Gly82Asp
- NP_001394674.1:p.Gly82Asp
- NP_001394675.1:p.Gly82Asp
- NP_001394676.1:p.Gly82Asp
- NP_001394677.1:p.Gly82Asp
- NP_001394678.1:p.Gly82Asp
- NP_001394679.1:p.Gly82Asp
- NP_001394680.1:p.Gly82Asp
- NP_001394681.1:p.Gly82Asp
- NP_001394767.1:p.Gly82Asp
- NP_001394768.1:p.Gly82Asp
- NP_001394770.1:p.Gly82Asp
- NP_001394771.1:p.Gly82Asp
- NP_001394772.1:p.Gly82Asp
- NP_001394773.1:p.Gly82Asp
- NP_001394774.1:p.Gly82Asp
- NP_001394775.1:p.Gly82Asp
- NP_001394776.1:p.Gly82Asp
- NP_001394777.1:p.Gly82Asp
- NP_001394778.1:p.Gly82Asp
- NP_001394779.1:p.Gly82Asp
- NP_001394780.1:p.Gly82Asp
- NP_001394781.1:p.Gly82Asp
- NP_001394782.1:p.Gly59Asp
- NP_001394783.1:p.Gly129Asp
- NP_001394787.1:p.Gly129Asp
- NP_001394788.1:p.Gly129Asp
- NP_001394789.1:p.Gly129Asp
- NP_001394790.1:p.Gly129Asp
- NP_001394791.1:p.Gly103Asp
- NP_001394792.1:p.Gly129Asp
- NP_001394803.1:p.Gly103Asp
- NP_001394804.1:p.Gly103Asp
- NP_001394808.1:p.Gly59Asp
- NP_001394810.1:p.Gly59Asp
- NP_001394811.1:p.Gly59Asp
- NP_001394813.1:p.Gly59Asp
- NP_001394814.1:p.Gly59Asp
- NP_001394815.1:p.Gly59Asp
- NP_001394816.1:p.Gly59Asp
- NP_001394818.1:p.Gly59Asp
- NP_001394823.1:p.Gly59Asp
- NP_001394824.1:p.Gly59Asp
- NP_001394825.1:p.Gly59Asp
- NP_001394826.1:p.Gly59Asp
- NP_001394827.1:p.Gly59Asp
- NP_001394828.1:p.Gly59Asp
- NP_001394829.1:p.Gly59Asp
- NP_001394831.1:p.Gly59Asp
- NP_001394833.1:p.Gly59Asp
- NP_001394835.1:p.Gly59Asp
- NP_001394836.1:p.Gly59Asp
- NP_001394837.1:p.Gly59Asp
- NP_001394838.1:p.Gly59Asp
- NP_001394839.1:p.Gly59Asp
- NP_001394844.1:p.Gly59Asp
- NP_001394845.1:p.Gly59Asp
- NP_001394846.1:p.Gly59Asp
- NP_001394847.1:p.Gly59Asp
- NP_001394848.1:p.Gly129Asp
- NP_001394849.1:p.Gly82Asp
- NP_001394850.1:p.Gly82Asp
- NP_001394851.1:p.Gly82Asp
- NP_001394852.1:p.Gly82Asp
- NP_001394853.1:p.Gly82Asp
- NP_001394854.1:p.Gly82Asp
- NP_001394855.1:p.Gly82Asp
- NP_001394856.1:p.Gly82Asp
- NP_001394857.1:p.Gly82Asp
- NP_001394858.1:p.Gly82Asp
- NP_001394859.1:p.Gly82Asp
- NP_001394860.1:p.Gly82Asp
- NP_001394861.1:p.Gly82Asp
- NP_001394862.1:p.Gly82Asp
- NP_001394863.1:p.Gly82Asp
- NP_001394864.1:p.Gly82Asp
- NP_001394865.1:p.Gly82Asp
- NP_001394866.1:p.Gly129Asp
- NP_001394867.1:p.Gly129Asp
- NP_001394868.1:p.Gly129Asp
- NP_001394869.1:p.Gly129Asp
- NP_001394870.1:p.Gly129Asp
- NP_001394871.1:p.Gly82Asp
- NP_001394872.1:p.Gly82Asp
- NP_001394873.1:p.Gly82Asp
- NP_001394874.1:p.Gly82Asp
- NP_001394875.1:p.Gly59Asp
- NP_001394876.1:p.Gly59Asp
- NP_001394877.1:p.Gly59Asp
- NP_001394878.1:p.Gly59Asp
- NP_001394879.1:p.Gly59Asp
- NP_001394880.1:p.Gly59Asp
- NP_001394881.1:p.Gly59Asp
- NP_001394882.1:p.Gly59Asp
- NP_001394883.1:p.Gly59Asp
- NP_001394884.1:p.Gly59Asp
- NP_001394885.1:p.Gly59Asp
- NP_001394886.1:p.Gly59Asp
- NP_001394887.1:p.Gly59Asp
- NP_001394888.1:p.Gly2Asp
- NP_001394889.1:p.Gly2Asp
- NP_001394891.1:p.Gly2Asp
- NP_001394892.1:p.Gly2Asp
- NP_001394893.1:p.Gly82Asp
- NP_001394894.1:p.Gly2Asp
- NP_001394897.1:p.Gly129Asp
- NP_001394898.1:p.Gly129Asp
- NP_001394899.1:p.Gly129Asp
- NP_001394900.1:p.Gly129Asp
- NP_001394901.1:p.Gly129Asp
- NP_001394902.1:p.Gly129Asp
- NP_001394903.1:p.Gly129Asp
- NP_001394904.1:p.Gly129Asp
- NP_001394905.1:p.Gly129Asp
- NP_001394906.1:p.Gly129Asp
- NP_001394907.1:p.Gly129Asp
- NP_001394908.1:p.Gly129Asp
- NP_001394909.1:p.Gly129Asp
- NP_001394910.1:p.Gly129Asp
- NP_001394911.1:p.Gly129Asp
- NP_001394912.1:p.Gly129Asp
- NP_001394913.1:p.Gly129Asp
- NP_001394914.1:p.Gly129Asp
- NP_001394915.1:p.Gly129Asp
- NP_001394919.1:p.Gly129Asp
- NP_001394920.1:p.Gly129Asp
- NP_001394921.1:p.Gly129Asp
- NP_001394922.1:p.Gly129Asp
- NP_001395321.1:p.Gly129Asp
- NP_001395325.1:p.Gly129Asp
- NP_001395326.1:p.Gly129Asp
- NP_001395327.1:p.Gly129Asp
- NP_001395328.1:p.Gly129Asp
- NP_001395329.1:p.Gly129Asp
- NP_001395330.1:p.Gly129Asp
- NP_001395331.1:p.Gly129Asp
- NP_001395332.1:p.Gly129Asp
- NP_001395333.1:p.Gly129Asp
- NP_001395335.1:p.Gly129Asp
- NP_001395336.1:p.Gly129Asp
- NP_001395337.1:p.Gly126Asp
- NP_001395338.1:p.Gly103Asp
- NP_001395339.1:p.Gly82Asp
- NP_001395340.1:p.Gly103Asp
- NP_001395341.1:p.Gly103Asp
- NP_001395342.1:p.Gly103Asp
- NP_001395343.1:p.Gly103Asp
- NP_001395344.1:p.Gly103Asp
- NP_001395345.1:p.Gly103Asp
- NP_001395347.1:p.Gly129Asp
- NP_001395348.1:p.Gly129Asp
- NP_001395349.1:p.Gly129Asp
- NP_001395350.1:p.Gly129Asp
- NP_001395351.1:p.Gly129Asp
- NP_001395352.1:p.Gly129Asp
- NP_001395353.1:p.Gly129Asp
- NP_001395354.1:p.Gly129Asp
- NP_001395355.1:p.Gly129Asp
- NP_001395356.1:p.Gly129Asp
- NP_001395357.1:p.Gly129Asp
- NP_001395358.1:p.Gly129Asp
- NP_001395359.1:p.Gly129Asp
- NP_001395360.1:p.Gly129Asp
- NP_001395361.1:p.Gly129Asp
- NP_001395362.1:p.Gly129Asp
- NP_001395363.1:p.Gly129Asp
- NP_001395364.1:p.Gly129Asp
- NP_001395365.1:p.Gly129Asp
- NP_001395366.1:p.Gly129Asp
- NP_001395367.1:p.Gly129Asp
- NP_001395368.1:p.Gly129Asp
- NP_001395369.1:p.Gly129Asp
- NP_001395370.1:p.Gly129Asp
- NP_001395371.1:p.Gly129Asp
- NP_001395372.1:p.Gly129Asp
- NP_001395373.1:p.Gly129Asp
- NP_001395374.1:p.Gly129Asp
- NP_001395375.1:p.Gly129Asp
- NP_001395376.1:p.Gly129Asp
- NP_001395377.1:p.Gly129Asp
- NP_001395379.1:p.Gly129Asp
- NP_001395380.1:p.Gly85Asp
- NP_001395381.1:p.Gly82Asp
- NP_001395382.1:p.Gly82Asp
- NP_001395383.1:p.Gly82Asp
- NP_001395384.1:p.Gly82Asp
- NP_001395385.1:p.Gly82Asp
- NP_001395386.1:p.Gly82Asp
- NP_001395387.1:p.Gly82Asp
- NP_001395388.1:p.Gly82Asp
- NP_001395389.1:p.Gly82Asp
- NP_001395390.1:p.Gly82Asp
- NP_001395391.1:p.Gly82Asp
- NP_001395392.1:p.Gly82Asp
- NP_001395393.1:p.Gly82Asp
- NP_001395394.1:p.Gly82Asp
- NP_001395395.1:p.Gly82Asp
- NP_001395396.1:p.Gly82Asp
- NP_001395397.1:p.Gly82Asp
- NP_001395398.1:p.Gly82Asp
- NP_001395399.1:p.Gly82Asp
- NP_001395401.1:p.Gly129Asp
- NP_001395402.1:p.Gly129Asp
- NP_001395403.1:p.Gly103Asp
- NP_001395404.1:p.Gly103Asp
- NP_001395405.1:p.Gly103Asp
- NP_001395407.1:p.Gly59Asp
- NP_001395408.1:p.Gly59Asp
- NP_001395409.1:p.Gly59Asp
- NP_001395410.1:p.Gly59Asp
- NP_001395411.1:p.Gly59Asp
- NP_001395412.1:p.Gly59Asp
- NP_001395413.1:p.Gly59Asp
- NP_001395414.1:p.Gly59Asp
- NP_001395418.1:p.Gly59Asp
- NP_001395419.1:p.Gly59Asp
- NP_001395420.1:p.Gly59Asp
- NP_001395421.1:p.Gly59Asp
- NP_001395422.1:p.Gly59Asp
- NP_001395423.1:p.Gly129Asp
- NP_001395424.1:p.Gly129Asp
- NP_001395425.1:p.Gly82Asp
- NP_001395426.1:p.Gly82Asp
- NP_001395427.1:p.Gly82Asp
- NP_001395428.1:p.Gly82Asp
- NP_001395429.1:p.Gly82Asp
- NP_001395430.1:p.Gly82Asp
- NP_001395431.1:p.Gly59Asp
- NP_001395432.1:p.Gly82Asp
- NP_001395433.1:p.Gly82Asp
- NP_001395434.1:p.Gly82Asp
- NP_001395435.1:p.Gly59Asp
- NP_001395436.1:p.Gly59Asp
- NP_001395437.1:p.Gly59Asp
- NP_001395438.1:p.Gly59Asp
- NP_001395439.1:p.Gly2Asp
- NP_001395440.1:p.Gly82Asp
- NP_001395441.1:p.Gly2Asp
- NP_001395442.1:p.Gly59Asp
- NP_001395443.1:p.Gly59Asp
- NP_009225.1:p.Gly129Asp
- NP_009225.1:p.Gly129Asp
- NP_009228.2:p.Gly82Asp
- NP_009229.2:p.Gly129Asp
- NP_009229.2:p.Gly129Asp
- NP_009230.2:p.Gly129Asp
- NP_009231.2:p.Gly129Asp
- NP_009235.2:p.Gly129Asp
- LRG_292t1:c.386G>A
- LRG_292:g.113807G>A
- LRG_292p1:p.Gly129Asp
- NC_000017.10:g.41256194C>T
- NM_007294.3:c.386G>A
- NM_007298.3:c.386G>A
- NR_027676.2:n.566G>A
This HGVS expression did not pass validation- Protein change:
- G103D
- Molecular consequence:
- NM_001407571.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407581.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407582.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407583.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407585.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407587.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407590.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407591.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407593.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407594.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407596.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407597.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407598.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407602.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407603.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407605.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407610.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407611.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407612.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407613.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407614.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407615.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407616.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407617.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407618.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407619.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407620.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407621.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407622.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407623.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407624.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407625.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407626.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407627.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407628.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407629.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407630.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407631.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407632.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407633.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407634.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407635.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407636.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407637.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407638.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407639.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407640.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407641.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407642.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407644.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407645.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407646.1:c.377G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407647.1:c.377G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407648.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407649.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407652.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407653.1:c.308G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407654.1:c.308G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407655.1:c.308G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407656.1:c.308G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407657.1:c.308G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407658.1:c.308G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407659.1:c.308G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407660.1:c.308G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407661.1:c.308G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407662.1:c.308G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407663.1:c.308G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407664.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407665.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407666.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407667.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407668.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407669.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407670.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407671.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407672.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407673.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407674.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407675.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407676.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407677.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407678.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407679.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407680.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407681.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407682.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407683.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407684.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407685.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407686.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407687.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407688.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407689.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407690.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407691.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407692.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407694.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407695.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407696.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407697.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407698.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407724.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407725.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407726.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407727.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407728.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407729.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407730.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407731.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407732.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407733.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407734.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407735.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407736.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407737.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407738.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407739.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407740.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407741.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407742.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407743.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407744.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407745.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407746.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407747.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407748.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407749.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407750.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407751.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407752.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407838.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407839.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407841.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407842.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407843.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407844.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407845.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407846.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407847.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407848.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407849.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407850.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407851.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407852.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407853.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407854.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407858.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407859.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407860.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407861.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407862.1:c.308G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407863.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407874.1:c.308G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407875.1:c.308G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407879.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407881.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407882.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407884.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407885.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407886.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407887.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407889.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407894.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407895.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407896.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407897.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407898.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407899.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407900.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407902.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407904.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407906.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407907.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407908.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407909.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407910.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407915.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407916.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407917.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407918.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407919.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407920.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407921.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407922.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407923.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407924.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407925.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407926.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407927.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407928.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407929.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407930.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407931.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407932.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407933.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407934.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407935.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407936.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407937.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407938.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407939.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407940.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407941.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407942.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407943.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407944.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407945.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407946.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407947.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407948.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407949.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407950.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407951.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407952.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407953.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407954.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407955.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407956.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407957.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407958.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407959.1:c.5G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407960.1:c.5G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407962.1:c.5G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407963.1:c.5G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407964.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407965.1:c.5G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407968.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407969.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407970.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407971.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407972.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407973.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407974.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407975.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407976.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407977.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407978.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407979.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407980.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407981.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407982.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407983.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407984.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407985.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407986.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407990.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407991.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407992.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407993.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408392.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408396.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408397.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408398.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408399.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408400.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408401.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408402.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408403.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408404.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408406.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408407.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408408.1:c.377G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408409.1:c.308G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408410.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408411.1:c.308G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408412.1:c.308G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408413.1:c.308G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408414.1:c.308G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408415.1:c.308G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408416.1:c.308G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408418.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408419.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408420.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408421.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408422.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408423.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408424.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408425.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408426.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408427.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408428.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408429.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408430.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408431.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408432.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408433.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408434.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408435.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408436.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408437.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408438.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408439.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408440.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408441.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408442.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408443.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408444.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408445.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408446.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408447.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408448.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408450.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408451.1:c.254G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408452.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408453.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408454.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408455.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408456.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408457.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408458.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408459.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408460.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408461.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408462.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408463.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408464.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408465.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408466.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408467.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408468.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408469.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408470.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408472.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408473.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408474.1:c.308G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408475.1:c.308G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408476.1:c.308G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408478.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408479.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408480.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408481.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408482.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408483.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408484.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408485.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408489.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408490.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408491.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408492.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408493.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408494.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408495.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408496.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408497.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408498.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408499.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408500.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408501.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408502.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408503.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408504.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408505.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408506.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408507.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408508.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408509.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408510.1:c.5G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408511.1:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408512.1:c.5G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408513.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408514.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_007294.4:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_007297.4:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_007298.4:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_007299.4:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_007300.4:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_007304.2:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
- NR_027676.2:n.566G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
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
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV002620034 | Ambry Genetics | criteria provided, single submitter (Ambry Variant Classification Scheme 2023) | Uncertain significance (Jul 27, 2017) | germline | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | germline | unknown | not provided | not provided | not provided | not provided | not provided | clinical testing |
Details of each submission
From Ambry Genetics, SCV002620034.2
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
Description
The p.G129D variant (also known as c.386G>A), located in coding exon 5 of the BRCA1 gene, results from a G to A substitution at nucleotide position 386. The glycine at codon 129 is replaced by aspartic acid, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
Last Updated: May 1, 2024