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NM_007294.4(BRCA1):c.1927A>G (p.Ser643Gly) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 28, 2015
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:
RCV000236055.9

Allele description [Variation Report for NM_007294.4(BRCA1):c.1927A>G (p.Ser643Gly)]

NM_007294.4(BRCA1):c.1927A>G (p.Ser643Gly)

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.1927A>G (p.Ser643Gly)
HGVS:
  • NC_000017.11:g.43093604T>C
  • NG_005905.2:g.124380A>G
  • NM_001407571.1:c.1714A>G
  • NM_001407581.1:c.1927A>G
  • NM_001407582.1:c.1927A>G
  • NM_001407583.1:c.1927A>G
  • NM_001407585.1:c.1927A>G
  • NM_001407587.1:c.1924A>G
  • NM_001407590.1:c.1924A>G
  • NM_001407591.1:c.1924A>G
  • NM_001407593.1:c.1927A>G
  • NM_001407594.1:c.1927A>G
  • NM_001407596.1:c.1927A>G
  • NM_001407597.1:c.1927A>G
  • NM_001407598.1:c.1927A>G
  • NM_001407602.1:c.1927A>G
  • NM_001407603.1:c.1927A>G
  • NM_001407605.1:c.1927A>G
  • NM_001407610.1:c.1924A>G
  • NM_001407611.1:c.1924A>G
  • NM_001407612.1:c.1924A>G
  • NM_001407613.1:c.1924A>G
  • NM_001407614.1:c.1924A>G
  • NM_001407615.1:c.1924A>G
  • NM_001407616.1:c.1927A>G
  • NM_001407617.1:c.1927A>G
  • NM_001407618.1:c.1927A>G
  • NM_001407619.1:c.1927A>G
  • NM_001407620.1:c.1927A>G
  • NM_001407621.1:c.1927A>G
  • NM_001407622.1:c.1927A>G
  • NM_001407623.1:c.1927A>G
  • NM_001407624.1:c.1927A>G
  • NM_001407625.1:c.1927A>G
  • NM_001407626.1:c.1927A>G
  • NM_001407627.1:c.1924A>G
  • NM_001407628.1:c.1924A>G
  • NM_001407629.1:c.1924A>G
  • NM_001407630.1:c.1924A>G
  • NM_001407631.1:c.1924A>G
  • NM_001407632.1:c.1924A>G
  • NM_001407633.1:c.1924A>G
  • NM_001407634.1:c.1924A>G
  • NM_001407635.1:c.1924A>G
  • NM_001407636.1:c.1924A>G
  • NM_001407637.1:c.1924A>G
  • NM_001407638.1:c.1924A>G
  • NM_001407639.1:c.1927A>G
  • NM_001407640.1:c.1927A>G
  • NM_001407641.1:c.1927A>G
  • NM_001407642.1:c.1927A>G
  • NM_001407644.1:c.1924A>G
  • NM_001407645.1:c.1924A>G
  • NM_001407646.1:c.1918A>G
  • NM_001407647.1:c.1918A>G
  • NM_001407648.1:c.1804A>G
  • NM_001407649.1:c.1801A>G
  • NM_001407652.1:c.1927A>G
  • NM_001407653.1:c.1849A>G
  • NM_001407654.1:c.1849A>G
  • NM_001407655.1:c.1849A>G
  • NM_001407656.1:c.1849A>G
  • NM_001407657.1:c.1849A>G
  • NM_001407658.1:c.1849A>G
  • NM_001407659.1:c.1846A>G
  • NM_001407660.1:c.1846A>G
  • NM_001407661.1:c.1846A>G
  • NM_001407662.1:c.1846A>G
  • NM_001407663.1:c.1849A>G
  • NM_001407664.1:c.1804A>G
  • NM_001407665.1:c.1804A>G
  • NM_001407666.1:c.1804A>G
  • NM_001407667.1:c.1804A>G
  • NM_001407668.1:c.1804A>G
  • NM_001407669.1:c.1804A>G
  • NM_001407670.1:c.1801A>G
  • NM_001407671.1:c.1801A>G
  • NM_001407672.1:c.1801A>G
  • NM_001407673.1:c.1801A>G
  • NM_001407674.1:c.1804A>G
  • NM_001407675.1:c.1804A>G
  • NM_001407676.1:c.1804A>G
  • NM_001407677.1:c.1804A>G
  • NM_001407678.1:c.1804A>G
  • NM_001407679.1:c.1804A>G
  • NM_001407680.1:c.1804A>G
  • NM_001407681.1:c.1804A>G
  • NM_001407682.1:c.1804A>G
  • NM_001407683.1:c.1804A>G
  • NM_001407684.1:c.1927A>G
  • NM_001407685.1:c.1801A>G
  • NM_001407686.1:c.1801A>G
  • NM_001407687.1:c.1801A>G
  • NM_001407688.1:c.1801A>G
  • NM_001407689.1:c.1801A>G
  • NM_001407690.1:c.1801A>G
  • NM_001407691.1:c.1801A>G
  • NM_001407692.1:c.1786A>G
  • NM_001407694.1:c.1786A>G
  • NM_001407695.1:c.1786A>G
  • NM_001407696.1:c.1786A>G
  • NM_001407697.1:c.1786A>G
  • NM_001407698.1:c.1786A>G
  • NM_001407724.1:c.1786A>G
  • NM_001407725.1:c.1786A>G
  • NM_001407726.1:c.1786A>G
  • NM_001407727.1:c.1786A>G
  • NM_001407728.1:c.1786A>G
  • NM_001407729.1:c.1786A>G
  • NM_001407730.1:c.1786A>G
  • NM_001407731.1:c.1786A>G
  • NM_001407732.1:c.1786A>G
  • NM_001407733.1:c.1786A>G
  • NM_001407734.1:c.1786A>G
  • NM_001407735.1:c.1786A>G
  • NM_001407736.1:c.1786A>G
  • NM_001407737.1:c.1786A>G
  • NM_001407738.1:c.1786A>G
  • NM_001407739.1:c.1786A>G
  • NM_001407740.1:c.1783A>G
  • NM_001407741.1:c.1783A>G
  • NM_001407742.1:c.1783A>G
  • NM_001407743.1:c.1783A>G
  • NM_001407744.1:c.1783A>G
  • NM_001407745.1:c.1783A>G
  • NM_001407746.1:c.1783A>G
  • NM_001407747.1:c.1783A>G
  • NM_001407748.1:c.1783A>G
  • NM_001407749.1:c.1783A>G
  • NM_001407750.1:c.1786A>G
  • NM_001407751.1:c.1786A>G
  • NM_001407752.1:c.1786A>G
  • NM_001407838.1:c.1783A>G
  • NM_001407839.1:c.1783A>G
  • NM_001407841.1:c.1783A>G
  • NM_001407842.1:c.1783A>G
  • NM_001407843.1:c.1783A>G
  • NM_001407844.1:c.1783A>G
  • NM_001407845.1:c.1783A>G
  • NM_001407846.1:c.1783A>G
  • NM_001407847.1:c.1783A>G
  • NM_001407848.1:c.1783A>G
  • NM_001407849.1:c.1783A>G
  • NM_001407850.1:c.1786A>G
  • NM_001407851.1:c.1786A>G
  • NM_001407852.1:c.1786A>G
  • NM_001407853.1:c.1714A>G
  • NM_001407854.1:c.1927A>G
  • NM_001407858.1:c.1927A>G
  • NM_001407859.1:c.1927A>G
  • NM_001407860.1:c.1924A>G
  • NM_001407861.1:c.1924A>G
  • NM_001407862.1:c.1726A>G
  • NM_001407863.1:c.1804A>G
  • NM_001407874.1:c.1723A>G
  • NM_001407875.1:c.1723A>G
  • NM_001407879.1:c.1717A>G
  • NM_001407881.1:c.1717A>G
  • NM_001407882.1:c.1717A>G
  • NM_001407884.1:c.1717A>G
  • NM_001407885.1:c.1717A>G
  • NM_001407886.1:c.1717A>G
  • NM_001407887.1:c.1717A>G
  • NM_001407889.1:c.1717A>G
  • NM_001407894.1:c.1714A>G
  • NM_001407895.1:c.1714A>G
  • NM_001407896.1:c.1714A>G
  • NM_001407897.1:c.1714A>G
  • NM_001407898.1:c.1714A>G
  • NM_001407899.1:c.1714A>G
  • NM_001407900.1:c.1717A>G
  • NM_001407902.1:c.1717A>G
  • NM_001407904.1:c.1717A>G
  • NM_001407906.1:c.1717A>G
  • NM_001407907.1:c.1717A>G
  • NM_001407908.1:c.1717A>G
  • NM_001407909.1:c.1717A>G
  • NM_001407910.1:c.1717A>G
  • NM_001407915.1:c.1714A>G
  • NM_001407916.1:c.1714A>G
  • NM_001407917.1:c.1714A>G
  • NM_001407918.1:c.1714A>G
  • NM_001407919.1:c.1804A>G
  • NM_001407920.1:c.1663A>G
  • NM_001407921.1:c.1663A>G
  • NM_001407922.1:c.1663A>G
  • NM_001407923.1:c.1663A>G
  • NM_001407924.1:c.1663A>G
  • NM_001407925.1:c.1663A>G
  • NM_001407926.1:c.1663A>G
  • NM_001407927.1:c.1663A>G
  • NM_001407928.1:c.1663A>G
  • NM_001407929.1:c.1663A>G
  • NM_001407930.1:c.1660A>G
  • NM_001407931.1:c.1660A>G
  • NM_001407932.1:c.1660A>G
  • NM_001407933.1:c.1663A>G
  • NM_001407934.1:c.1660A>G
  • NM_001407935.1:c.1663A>G
  • NM_001407936.1:c.1660A>G
  • NM_001407937.1:c.1804A>G
  • NM_001407938.1:c.1804A>G
  • NM_001407939.1:c.1804A>G
  • NM_001407940.1:c.1801A>G
  • NM_001407941.1:c.1801A>G
  • NM_001407942.1:c.1786A>G
  • NM_001407943.1:c.1783A>G
  • NM_001407944.1:c.1786A>G
  • NM_001407945.1:c.1786A>G
  • NM_001407946.1:c.1594A>G
  • NM_001407947.1:c.1594A>G
  • NM_001407948.1:c.1594A>G
  • NM_001407949.1:c.1594A>G
  • NM_001407950.1:c.1594A>G
  • NM_001407951.1:c.1594A>G
  • NM_001407952.1:c.1594A>G
  • NM_001407953.1:c.1594A>G
  • NM_001407954.1:c.1591A>G
  • NM_001407955.1:c.1591A>G
  • NM_001407956.1:c.1591A>G
  • NM_001407957.1:c.1594A>G
  • NM_001407958.1:c.1591A>G
  • NM_001407959.1:c.1546A>G
  • NM_001407960.1:c.1546A>G
  • NM_001407962.1:c.1543A>G
  • NM_001407963.1:c.1546A>G
  • NM_001407964.1:c.1783A>G
  • NM_001407965.1:c.1423A>G
  • NM_001407966.1:c.1039A>G
  • NM_001407967.1:c.1039A>G
  • NM_001407968.1:c.787+1140A>G
  • NM_001407969.1:c.787+1140A>G
  • NM_001407970.1:c.787+1140A>G
  • NM_001407971.1:c.787+1140A>G
  • NM_001407972.1:c.784+1140A>G
  • NM_001407973.1:c.787+1140A>G
  • NM_001407974.1:c.787+1140A>G
  • NM_001407975.1:c.787+1140A>G
  • NM_001407976.1:c.787+1140A>G
  • NM_001407977.1:c.787+1140A>G
  • NM_001407978.1:c.787+1140A>G
  • NM_001407979.1:c.787+1140A>G
  • NM_001407980.1:c.787+1140A>G
  • NM_001407981.1:c.787+1140A>G
  • NM_001407982.1:c.787+1140A>G
  • NM_001407983.1:c.787+1140A>G
  • NM_001407984.1:c.784+1140A>G
  • NM_001407985.1:c.784+1140A>G
  • NM_001407986.1:c.784+1140A>G
  • NM_001407990.1:c.787+1140A>G
  • NM_001407991.1:c.784+1140A>G
  • NM_001407992.1:c.784+1140A>G
  • NM_001407993.1:c.787+1140A>G
  • NM_001408392.1:c.784+1140A>G
  • NM_001408396.1:c.784+1140A>G
  • NM_001408397.1:c.784+1140A>G
  • NM_001408398.1:c.784+1140A>G
  • NM_001408399.1:c.784+1140A>G
  • NM_001408400.1:c.784+1140A>G
  • NM_001408401.1:c.784+1140A>G
  • NM_001408402.1:c.784+1140A>G
  • NM_001408403.1:c.787+1140A>G
  • NM_001408404.1:c.787+1140A>G
  • NM_001408406.1:c.790+1137A>G
  • NM_001408407.1:c.784+1140A>G
  • NM_001408408.1:c.778+1140A>G
  • NM_001408409.1:c.709+1140A>G
  • NM_001408410.1:c.646+1140A>G
  • NM_001408411.1:c.709+1140A>G
  • NM_001408412.1:c.709+1140A>G
  • NM_001408413.1:c.706+1140A>G
  • NM_001408414.1:c.709+1140A>G
  • NM_001408415.1:c.709+1140A>G
  • NM_001408416.1:c.706+1140A>G
  • NM_001408418.1:c.670+2242A>G
  • NM_001408419.1:c.670+2242A>G
  • NM_001408420.1:c.670+2242A>G
  • NM_001408421.1:c.667+2242A>G
  • NM_001408422.1:c.670+2242A>G
  • NM_001408423.1:c.670+2242A>G
  • NM_001408424.1:c.667+2242A>G
  • NM_001408425.1:c.664+1140A>G
  • NM_001408426.1:c.664+1140A>G
  • NM_001408427.1:c.664+1140A>G
  • NM_001408428.1:c.664+1140A>G
  • NM_001408429.1:c.664+1140A>G
  • NM_001408430.1:c.664+1140A>G
  • NM_001408431.1:c.667+2242A>G
  • NM_001408432.1:c.661+1140A>G
  • NM_001408433.1:c.661+1140A>G
  • NM_001408434.1:c.661+1140A>G
  • NM_001408435.1:c.661+1140A>G
  • NM_001408436.1:c.664+1140A>G
  • NM_001408437.1:c.664+1140A>G
  • NM_001408438.1:c.664+1140A>G
  • NM_001408439.1:c.664+1140A>G
  • NM_001408440.1:c.664+1140A>G
  • NM_001408441.1:c.664+1140A>G
  • NM_001408442.1:c.664+1140A>G
  • NM_001408443.1:c.664+1140A>G
  • NM_001408444.1:c.664+1140A>G
  • NM_001408445.1:c.661+1140A>G
  • NM_001408446.1:c.661+1140A>G
  • NM_001408447.1:c.661+1140A>G
  • NM_001408448.1:c.661+1140A>G
  • NM_001408450.1:c.661+1140A>G
  • NM_001408451.1:c.652+1140A>G
  • NM_001408452.1:c.646+1140A>G
  • NM_001408453.1:c.646+1140A>G
  • NM_001408454.1:c.646+1140A>G
  • NM_001408455.1:c.646+1140A>G
  • NM_001408456.1:c.646+1140A>G
  • NM_001408457.1:c.646+1140A>G
  • NM_001408458.1:c.646+1140A>G
  • NM_001408459.1:c.646+1140A>G
  • NM_001408460.1:c.646+1140A>G
  • NM_001408461.1:c.646+1140A>G
  • NM_001408462.1:c.643+1140A>G
  • NM_001408463.1:c.643+1140A>G
  • NM_001408464.1:c.643+1140A>G
  • NM_001408465.1:c.643+1140A>G
  • NM_001408466.1:c.646+1140A>G
  • NM_001408467.1:c.646+1140A>G
  • NM_001408468.1:c.643+1140A>G
  • NM_001408469.1:c.646+1140A>G
  • NM_001408470.1:c.643+1140A>G
  • NM_001408472.1:c.787+1140A>G
  • NM_001408473.1:c.784+1140A>G
  • NM_001408474.1:c.586+1140A>G
  • NM_001408475.1:c.583+1140A>G
  • NM_001408476.1:c.586+1140A>G
  • NM_001408478.1:c.577+1140A>G
  • NM_001408479.1:c.577+1140A>G
  • NM_001408480.1:c.577+1140A>G
  • NM_001408481.1:c.577+1140A>G
  • NM_001408482.1:c.577+1140A>G
  • NM_001408483.1:c.577+1140A>G
  • NM_001408484.1:c.577+1140A>G
  • NM_001408485.1:c.577+1140A>G
  • NM_001408489.1:c.577+1140A>G
  • NM_001408490.1:c.574+1140A>G
  • NM_001408491.1:c.574+1140A>G
  • NM_001408492.1:c.577+1140A>G
  • NM_001408493.1:c.574+1140A>G
  • NM_001408494.1:c.548-2572A>G
  • NM_001408495.1:c.545-2572A>G
  • NM_001408496.1:c.523+1140A>G
  • NM_001408497.1:c.523+1140A>G
  • NM_001408498.1:c.523+1140A>G
  • NM_001408499.1:c.523+1140A>G
  • NM_001408500.1:c.523+1140A>G
  • NM_001408501.1:c.523+1140A>G
  • NM_001408502.1:c.454+1140A>G
  • NM_001408503.1:c.520+1140A>G
  • NM_001408504.1:c.520+1140A>G
  • NM_001408505.1:c.520+1140A>G
  • NM_001408506.1:c.460+2242A>G
  • NM_001408507.1:c.460+2242A>G
  • NM_001408508.1:c.451+1140A>G
  • NM_001408509.1:c.451+1140A>G
  • NM_001408510.1:c.406+1140A>G
  • NM_001408511.1:c.404-2572A>G
  • NM_001408512.1:c.283+1140A>G
  • NM_001408513.1:c.577+1140A>G
  • NM_001408514.1:c.577+1140A>G
  • NM_007294.4:c.1927A>GMANE SELECT
  • NM_007297.4:c.1786A>G
  • NM_007298.4:c.787+1140A>G
  • NM_007299.4:c.787+1140A>G
  • NM_007300.4:c.1927A>G
  • NP_001394500.1:p.Ser572Gly
  • NP_001394510.1:p.Ser643Gly
  • NP_001394511.1:p.Ser643Gly
  • NP_001394512.1:p.Ser643Gly
  • NP_001394514.1:p.Ser643Gly
  • NP_001394516.1:p.Ser642Gly
  • NP_001394519.1:p.Ser642Gly
  • NP_001394520.1:p.Ser642Gly
  • NP_001394522.1:p.Ser643Gly
  • NP_001394523.1:p.Ser643Gly
  • NP_001394525.1:p.Ser643Gly
  • NP_001394526.1:p.Ser643Gly
  • NP_001394527.1:p.Ser643Gly
  • NP_001394531.1:p.Ser643Gly
  • NP_001394532.1:p.Ser643Gly
  • NP_001394534.1:p.Ser643Gly
  • NP_001394539.1:p.Ser642Gly
  • NP_001394540.1:p.Ser642Gly
  • NP_001394541.1:p.Ser642Gly
  • NP_001394542.1:p.Ser642Gly
  • NP_001394543.1:p.Ser642Gly
  • NP_001394544.1:p.Ser642Gly
  • NP_001394545.1:p.Ser643Gly
  • NP_001394546.1:p.Ser643Gly
  • NP_001394547.1:p.Ser643Gly
  • NP_001394548.1:p.Ser643Gly
  • NP_001394549.1:p.Ser643Gly
  • NP_001394550.1:p.Ser643Gly
  • NP_001394551.1:p.Ser643Gly
  • NP_001394552.1:p.Ser643Gly
  • NP_001394553.1:p.Ser643Gly
  • NP_001394554.1:p.Ser643Gly
  • NP_001394555.1:p.Ser643Gly
  • NP_001394556.1:p.Ser642Gly
  • NP_001394557.1:p.Ser642Gly
  • NP_001394558.1:p.Ser642Gly
  • NP_001394559.1:p.Ser642Gly
  • NP_001394560.1:p.Ser642Gly
  • NP_001394561.1:p.Ser642Gly
  • NP_001394562.1:p.Ser642Gly
  • NP_001394563.1:p.Ser642Gly
  • NP_001394564.1:p.Ser642Gly
  • NP_001394565.1:p.Ser642Gly
  • NP_001394566.1:p.Ser642Gly
  • NP_001394567.1:p.Ser642Gly
  • NP_001394568.1:p.Ser643Gly
  • NP_001394569.1:p.Ser643Gly
  • NP_001394570.1:p.Ser643Gly
  • NP_001394571.1:p.Ser643Gly
  • NP_001394573.1:p.Ser642Gly
  • NP_001394574.1:p.Ser642Gly
  • NP_001394575.1:p.Ser640Gly
  • NP_001394576.1:p.Ser640Gly
  • NP_001394577.1:p.Ser602Gly
  • NP_001394578.1:p.Ser601Gly
  • NP_001394581.1:p.Ser643Gly
  • NP_001394582.1:p.Ser617Gly
  • NP_001394583.1:p.Ser617Gly
  • NP_001394584.1:p.Ser617Gly
  • NP_001394585.1:p.Ser617Gly
  • NP_001394586.1:p.Ser617Gly
  • NP_001394587.1:p.Ser617Gly
  • NP_001394588.1:p.Ser616Gly
  • NP_001394589.1:p.Ser616Gly
  • NP_001394590.1:p.Ser616Gly
  • NP_001394591.1:p.Ser616Gly
  • NP_001394592.1:p.Ser617Gly
  • NP_001394593.1:p.Ser602Gly
  • NP_001394594.1:p.Ser602Gly
  • NP_001394595.1:p.Ser602Gly
  • NP_001394596.1:p.Ser602Gly
  • NP_001394597.1:p.Ser602Gly
  • NP_001394598.1:p.Ser602Gly
  • NP_001394599.1:p.Ser601Gly
  • NP_001394600.1:p.Ser601Gly
  • NP_001394601.1:p.Ser601Gly
  • NP_001394602.1:p.Ser601Gly
  • NP_001394603.1:p.Ser602Gly
  • NP_001394604.1:p.Ser602Gly
  • NP_001394605.1:p.Ser602Gly
  • NP_001394606.1:p.Ser602Gly
  • NP_001394607.1:p.Ser602Gly
  • NP_001394608.1:p.Ser602Gly
  • NP_001394609.1:p.Ser602Gly
  • NP_001394610.1:p.Ser602Gly
  • NP_001394611.1:p.Ser602Gly
  • NP_001394612.1:p.Ser602Gly
  • NP_001394613.1:p.Ser643Gly
  • NP_001394614.1:p.Ser601Gly
  • NP_001394615.1:p.Ser601Gly
  • NP_001394616.1:p.Ser601Gly
  • NP_001394617.1:p.Ser601Gly
  • NP_001394618.1:p.Ser601Gly
  • NP_001394619.1:p.Ser601Gly
  • NP_001394620.1:p.Ser601Gly
  • NP_001394621.1:p.Ser596Gly
  • NP_001394623.1:p.Ser596Gly
  • NP_001394624.1:p.Ser596Gly
  • NP_001394625.1:p.Ser596Gly
  • NP_001394626.1:p.Ser596Gly
  • NP_001394627.1:p.Ser596Gly
  • NP_001394653.1:p.Ser596Gly
  • NP_001394654.1:p.Ser596Gly
  • NP_001394655.1:p.Ser596Gly
  • NP_001394656.1:p.Ser596Gly
  • NP_001394657.1:p.Ser596Gly
  • NP_001394658.1:p.Ser596Gly
  • NP_001394659.1:p.Ser596Gly
  • NP_001394660.1:p.Ser596Gly
  • NP_001394661.1:p.Ser596Gly
  • NP_001394662.1:p.Ser596Gly
  • NP_001394663.1:p.Ser596Gly
  • NP_001394664.1:p.Ser596Gly
  • NP_001394665.1:p.Ser596Gly
  • NP_001394666.1:p.Ser596Gly
  • NP_001394667.1:p.Ser596Gly
  • NP_001394668.1:p.Ser596Gly
  • NP_001394669.1:p.Ser595Gly
  • NP_001394670.1:p.Ser595Gly
  • NP_001394671.1:p.Ser595Gly
  • NP_001394672.1:p.Ser595Gly
  • NP_001394673.1:p.Ser595Gly
  • NP_001394674.1:p.Ser595Gly
  • NP_001394675.1:p.Ser595Gly
  • NP_001394676.1:p.Ser595Gly
  • NP_001394677.1:p.Ser595Gly
  • NP_001394678.1:p.Ser595Gly
  • NP_001394679.1:p.Ser596Gly
  • NP_001394680.1:p.Ser596Gly
  • NP_001394681.1:p.Ser596Gly
  • NP_001394767.1:p.Ser595Gly
  • NP_001394768.1:p.Ser595Gly
  • NP_001394770.1:p.Ser595Gly
  • NP_001394771.1:p.Ser595Gly
  • NP_001394772.1:p.Ser595Gly
  • NP_001394773.1:p.Ser595Gly
  • NP_001394774.1:p.Ser595Gly
  • NP_001394775.1:p.Ser595Gly
  • NP_001394776.1:p.Ser595Gly
  • NP_001394777.1:p.Ser595Gly
  • NP_001394778.1:p.Ser595Gly
  • NP_001394779.1:p.Ser596Gly
  • NP_001394780.1:p.Ser596Gly
  • NP_001394781.1:p.Ser596Gly
  • NP_001394782.1:p.Ser572Gly
  • NP_001394783.1:p.Ser643Gly
  • NP_001394787.1:p.Ser643Gly
  • NP_001394788.1:p.Ser643Gly
  • NP_001394789.1:p.Ser642Gly
  • NP_001394790.1:p.Ser642Gly
  • NP_001394791.1:p.Ser576Gly
  • NP_001394792.1:p.Ser602Gly
  • NP_001394803.1:p.Ser575Gly
  • NP_001394804.1:p.Ser575Gly
  • NP_001394808.1:p.Ser573Gly
  • NP_001394810.1:p.Ser573Gly
  • NP_001394811.1:p.Ser573Gly
  • NP_001394813.1:p.Ser573Gly
  • NP_001394814.1:p.Ser573Gly
  • NP_001394815.1:p.Ser573Gly
  • NP_001394816.1:p.Ser573Gly
  • NP_001394818.1:p.Ser573Gly
  • NP_001394823.1:p.Ser572Gly
  • NP_001394824.1:p.Ser572Gly
  • NP_001394825.1:p.Ser572Gly
  • NP_001394826.1:p.Ser572Gly
  • NP_001394827.1:p.Ser572Gly
  • NP_001394828.1:p.Ser572Gly
  • NP_001394829.1:p.Ser573Gly
  • NP_001394831.1:p.Ser573Gly
  • NP_001394833.1:p.Ser573Gly
  • NP_001394835.1:p.Ser573Gly
  • NP_001394836.1:p.Ser573Gly
  • NP_001394837.1:p.Ser573Gly
  • NP_001394838.1:p.Ser573Gly
  • NP_001394839.1:p.Ser573Gly
  • NP_001394844.1:p.Ser572Gly
  • NP_001394845.1:p.Ser572Gly
  • NP_001394846.1:p.Ser572Gly
  • NP_001394847.1:p.Ser572Gly
  • NP_001394848.1:p.Ser602Gly
  • NP_001394849.1:p.Ser555Gly
  • NP_001394850.1:p.Ser555Gly
  • NP_001394851.1:p.Ser555Gly
  • NP_001394852.1:p.Ser555Gly
  • NP_001394853.1:p.Ser555Gly
  • NP_001394854.1:p.Ser555Gly
  • NP_001394855.1:p.Ser555Gly
  • NP_001394856.1:p.Ser555Gly
  • NP_001394857.1:p.Ser555Gly
  • NP_001394858.1:p.Ser555Gly
  • NP_001394859.1:p.Ser554Gly
  • NP_001394860.1:p.Ser554Gly
  • NP_001394861.1:p.Ser554Gly
  • NP_001394862.1:p.Ser555Gly
  • NP_001394863.1:p.Ser554Gly
  • NP_001394864.1:p.Ser555Gly
  • NP_001394865.1:p.Ser554Gly
  • NP_001394866.1:p.Ser602Gly
  • NP_001394867.1:p.Ser602Gly
  • NP_001394868.1:p.Ser602Gly
  • NP_001394869.1:p.Ser601Gly
  • NP_001394870.1:p.Ser601Gly
  • NP_001394871.1:p.Ser596Gly
  • NP_001394872.1:p.Ser595Gly
  • NP_001394873.1:p.Ser596Gly
  • NP_001394874.1:p.Ser596Gly
  • NP_001394875.1:p.Ser532Gly
  • NP_001394876.1:p.Ser532Gly
  • NP_001394877.1:p.Ser532Gly
  • NP_001394878.1:p.Ser532Gly
  • NP_001394879.1:p.Ser532Gly
  • NP_001394880.1:p.Ser532Gly
  • NP_001394881.1:p.Ser532Gly
  • NP_001394882.1:p.Ser532Gly
  • NP_001394883.1:p.Ser531Gly
  • NP_001394884.1:p.Ser531Gly
  • NP_001394885.1:p.Ser531Gly
  • NP_001394886.1:p.Ser532Gly
  • NP_001394887.1:p.Ser531Gly
  • NP_001394888.1:p.Ser516Gly
  • NP_001394889.1:p.Ser516Gly
  • NP_001394891.1:p.Ser515Gly
  • NP_001394892.1:p.Ser516Gly
  • NP_001394893.1:p.Ser595Gly
  • NP_001394894.1:p.Ser475Gly
  • NP_001394895.1:p.Ser347Gly
  • NP_001394896.1:p.Ser347Gly
  • NP_009225.1:p.Ser643Gly
  • NP_009225.1:p.Ser643Gly
  • NP_009228.2:p.Ser596Gly
  • NP_009231.2:p.Ser643Gly
  • LRG_292t1:c.1927A>G
  • LRG_292:g.124380A>G
  • LRG_292p1:p.Ser643Gly
  • NC_000017.10:g.41245621T>C
  • NM_007294.3:c.1927A>G
  • NR_027676.1:n.2063A>G
  • U14680.1:n.2046A>G
Nucleotide change:
2046A>G
Protein change:
S347G
Links:
dbSNP: rs80357105
NCBI 1000 Genomes Browser:
rs80357105
Molecular consequence:
  • NM_001407968.1:c.787+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.787+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.787+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.787+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.784+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.787+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.787+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.787+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.787+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.787+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.787+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.787+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.787+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.787+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.787+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.787+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.784+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.784+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.784+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.787+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.784+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.784+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.787+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.784+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.784+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.784+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.784+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.784+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.784+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.784+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.784+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.787+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.787+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.790+1137A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.784+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.778+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.709+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.646+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.709+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.709+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.706+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.709+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.709+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.706+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.670+2242A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.670+2242A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.670+2242A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.667+2242A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.670+2242A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.670+2242A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.667+2242A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.664+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.664+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.664+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.664+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.664+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.664+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.667+2242A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.661+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.661+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.661+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.661+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.664+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.664+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.664+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.664+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.664+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.664+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.664+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.664+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.664+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.661+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.661+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.661+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.661+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.661+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.652+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.646+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.646+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.646+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.646+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.646+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.646+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.646+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.646+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.646+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.646+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.643+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.643+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.643+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.643+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.646+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.646+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.643+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.646+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.643+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.787+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.784+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.586+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.583+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.586+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.577+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.577+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.577+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.577+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.577+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.577+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.577+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.577+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.577+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.574+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.574+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.577+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.574+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-2572A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-2572A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.523+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.523+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.523+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.523+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.523+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.523+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.454+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.520+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.520+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.520+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.460+2242A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.460+2242A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.451+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.451+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.406+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-2572A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.283+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.577+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.577+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.787+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.787+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.1714A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.1927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.1927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.1927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.1927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.1924A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.1924A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.1924A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.1927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.1927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.1927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.1927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.1927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.1927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.1927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.1927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.1924A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.1924A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.1924A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.1924A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.1924A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.1924A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.1927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.1927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.1927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.1927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.1927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.1927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.1927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.1927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.1927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.1927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.1927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.1924A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.1924A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.1924A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.1924A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.1924A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.1924A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.1924A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.1924A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.1924A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.1924A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.1924A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.1924A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.1927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.1927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.1927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.1927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.1924A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.1924A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.1918A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.1918A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.1804A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.1801A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.1927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.1849A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.1849A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.1849A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.1849A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.1849A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.1849A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.1846A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.1846A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.1846A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.1846A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.1849A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.1804A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.1804A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.1804A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.1804A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.1804A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.1804A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.1801A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.1801A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.1801A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.1801A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.1804A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.1804A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.1804A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.1804A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.1804A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.1804A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.1804A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.1804A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.1804A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.1804A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.1927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.1801A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.1801A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.1801A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.1801A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.1801A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.1801A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.1801A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.1786A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.1786A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.1786A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.1786A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.1786A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.1786A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.1786A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.1786A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.1786A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.1786A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.1786A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.1786A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.1786A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.1786A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.1786A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.1786A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.1786A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.1786A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.1786A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.1786A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.1786A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.1786A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.1783A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.1783A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.1783A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.1783A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.1783A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.1783A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.1783A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.1783A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.1783A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.1783A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.1786A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.1786A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.1786A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.1783A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.1783A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.1783A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.1783A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.1783A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.1783A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.1783A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.1783A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.1783A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.1783A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.1783A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.1786A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.1786A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.1786A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.1714A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.1927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.1927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.1927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.1924A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.1924A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.1726A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.1804A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.1723A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.1723A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.1717A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.1717A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.1717A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.1717A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.1717A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.1717A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.1717A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.1717A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.1714A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.1714A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.1714A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.1714A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.1714A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.1714A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.1717A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.1717A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.1717A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.1717A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.1717A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.1717A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.1717A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.1717A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.1714A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.1714A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.1714A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.1714A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.1804A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.1663A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.1663A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.1663A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.1663A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.1663A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.1663A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.1663A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.1663A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.1663A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.1663A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.1660A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.1660A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.1660A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.1663A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.1660A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.1663A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.1660A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.1804A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.1804A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.1804A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.1801A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.1801A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.1786A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.1783A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.1786A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.1786A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.1594A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.1594A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.1594A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.1594A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.1594A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.1594A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.1594A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.1594A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.1591A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.1591A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.1591A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.1594A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.1591A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.1546A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.1546A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.1543A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.1546A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.1783A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.1423A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.1039A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.1039A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.1927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.1786A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.1927A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000293185GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Sep 28, 2015) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000293185.10

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

Description

This variant is denoted BRCA1 c.1927A>G at the cDNA level, p.Ser643Gly (S643G) at the protein level, and results in the change of a Serine to a Glycine (AGT>GGT). Using alternate nomenclature, this variant has been previously published as BRCA1 2046A>G, having been observed in a breast cancer family (Stoppa-Lyonnet 1997). BRCA1 Ser643Gly was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Since Serine and Glycine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. BRCA1 Ser643Gly occurs at a position where amino acids with properties similar to Serine are tolerated across species and is located in the DNA binding domain (Narod 2004). In silico analyses predict that this variant is probably damaging to protein structure and function. Based on currently available evidence, it is unclear whether BRCA1 Ser643Gly is pathogenic or benign.

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

Last Updated: Oct 13, 2024