U.S. flag

An official website of the United States government

NM_007294.4(BRCA1):c.2079C>G (p.Asp693Glu) AND Familial cancer of breast

Germline classification:
Likely benign (1 submission)
Last evaluated:
Feb 9, 2024
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:
RCV003607580.1

Allele description [Variation Report for NM_007294.4(BRCA1):c.2079C>G (p.Asp693Glu)]

NM_007294.4(BRCA1):c.2079C>G (p.Asp693Glu)

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.2079C>G (p.Asp693Glu)
HGVS:
  • NC_000017.11:g.43093452G>C
  • NG_005905.2:g.124532C>G
  • NM_001407571.1:c.1866C>G
  • NM_001407581.1:c.2079C>G
  • NM_001407582.1:c.2079C>G
  • NM_001407583.1:c.2079C>G
  • NM_001407585.1:c.2079C>G
  • NM_001407587.1:c.2076C>G
  • NM_001407590.1:c.2076C>G
  • NM_001407591.1:c.2076C>G
  • NM_001407593.1:c.2079C>G
  • NM_001407594.1:c.2079C>G
  • NM_001407596.1:c.2079C>G
  • NM_001407597.1:c.2079C>G
  • NM_001407598.1:c.2079C>G
  • NM_001407602.1:c.2079C>G
  • NM_001407603.1:c.2079C>G
  • NM_001407605.1:c.2079C>G
  • NM_001407610.1:c.2076C>G
  • NM_001407611.1:c.2076C>G
  • NM_001407612.1:c.2076C>G
  • NM_001407613.1:c.2076C>G
  • NM_001407614.1:c.2076C>G
  • NM_001407615.1:c.2076C>G
  • NM_001407616.1:c.2079C>G
  • NM_001407617.1:c.2079C>G
  • NM_001407618.1:c.2079C>G
  • NM_001407619.1:c.2079C>G
  • NM_001407620.1:c.2079C>G
  • NM_001407621.1:c.2079C>G
  • NM_001407622.1:c.2079C>G
  • NM_001407623.1:c.2079C>G
  • NM_001407624.1:c.2079C>G
  • NM_001407625.1:c.2079C>G
  • NM_001407626.1:c.2079C>G
  • NM_001407627.1:c.2076C>G
  • NM_001407628.1:c.2076C>G
  • NM_001407629.1:c.2076C>G
  • NM_001407630.1:c.2076C>G
  • NM_001407631.1:c.2076C>G
  • NM_001407632.1:c.2076C>G
  • NM_001407633.1:c.2076C>G
  • NM_001407634.1:c.2076C>G
  • NM_001407635.1:c.2076C>G
  • NM_001407636.1:c.2076C>G
  • NM_001407637.1:c.2076C>G
  • NM_001407638.1:c.2076C>G
  • NM_001407639.1:c.2079C>G
  • NM_001407640.1:c.2079C>G
  • NM_001407641.1:c.2079C>G
  • NM_001407642.1:c.2079C>G
  • NM_001407644.1:c.2076C>G
  • NM_001407645.1:c.2076C>G
  • NM_001407646.1:c.2070C>G
  • NM_001407647.1:c.2070C>G
  • NM_001407648.1:c.1956C>G
  • NM_001407649.1:c.1953C>G
  • NM_001407652.1:c.2079C>G
  • NM_001407653.1:c.2001C>G
  • NM_001407654.1:c.2001C>G
  • NM_001407655.1:c.2001C>G
  • NM_001407656.1:c.2001C>G
  • NM_001407657.1:c.2001C>G
  • NM_001407658.1:c.2001C>G
  • NM_001407659.1:c.1998C>G
  • NM_001407660.1:c.1998C>G
  • NM_001407661.1:c.1998C>G
  • NM_001407662.1:c.1998C>G
  • NM_001407663.1:c.2001C>G
  • NM_001407664.1:c.1956C>G
  • NM_001407665.1:c.1956C>G
  • NM_001407666.1:c.1956C>G
  • NM_001407667.1:c.1956C>G
  • NM_001407668.1:c.1956C>G
  • NM_001407669.1:c.1956C>G
  • NM_001407670.1:c.1953C>G
  • NM_001407671.1:c.1953C>G
  • NM_001407672.1:c.1953C>G
  • NM_001407673.1:c.1953C>G
  • NM_001407674.1:c.1956C>G
  • NM_001407675.1:c.1956C>G
  • NM_001407676.1:c.1956C>G
  • NM_001407677.1:c.1956C>G
  • NM_001407678.1:c.1956C>G
  • NM_001407679.1:c.1956C>G
  • NM_001407680.1:c.1956C>G
  • NM_001407681.1:c.1956C>G
  • NM_001407682.1:c.1956C>G
  • NM_001407683.1:c.1956C>G
  • NM_001407684.1:c.2079C>G
  • NM_001407685.1:c.1953C>G
  • NM_001407686.1:c.1953C>G
  • NM_001407687.1:c.1953C>G
  • NM_001407688.1:c.1953C>G
  • NM_001407689.1:c.1953C>G
  • NM_001407690.1:c.1953C>G
  • NM_001407691.1:c.1953C>G
  • NM_001407692.1:c.1938C>G
  • NM_001407694.1:c.1938C>G
  • NM_001407695.1:c.1938C>G
  • NM_001407696.1:c.1938C>G
  • NM_001407697.1:c.1938C>G
  • NM_001407698.1:c.1938C>G
  • NM_001407724.1:c.1938C>G
  • NM_001407725.1:c.1938C>G
  • NM_001407726.1:c.1938C>G
  • NM_001407727.1:c.1938C>G
  • NM_001407728.1:c.1938C>G
  • NM_001407729.1:c.1938C>G
  • NM_001407730.1:c.1938C>G
  • NM_001407731.1:c.1938C>G
  • NM_001407732.1:c.1938C>G
  • NM_001407733.1:c.1938C>G
  • NM_001407734.1:c.1938C>G
  • NM_001407735.1:c.1938C>G
  • NM_001407736.1:c.1938C>G
  • NM_001407737.1:c.1938C>G
  • NM_001407738.1:c.1938C>G
  • NM_001407739.1:c.1938C>G
  • NM_001407740.1:c.1935C>G
  • NM_001407741.1:c.1935C>G
  • NM_001407742.1:c.1935C>G
  • NM_001407743.1:c.1935C>G
  • NM_001407744.1:c.1935C>G
  • NM_001407745.1:c.1935C>G
  • NM_001407746.1:c.1935C>G
  • NM_001407747.1:c.1935C>G
  • NM_001407748.1:c.1935C>G
  • NM_001407749.1:c.1935C>G
  • NM_001407750.1:c.1938C>G
  • NM_001407751.1:c.1938C>G
  • NM_001407752.1:c.1938C>G
  • NM_001407838.1:c.1935C>G
  • NM_001407839.1:c.1935C>G
  • NM_001407841.1:c.1935C>G
  • NM_001407842.1:c.1935C>G
  • NM_001407843.1:c.1935C>G
  • NM_001407844.1:c.1935C>G
  • NM_001407845.1:c.1935C>G
  • NM_001407846.1:c.1935C>G
  • NM_001407847.1:c.1935C>G
  • NM_001407848.1:c.1935C>G
  • NM_001407849.1:c.1935C>G
  • NM_001407850.1:c.1938C>G
  • NM_001407851.1:c.1938C>G
  • NM_001407852.1:c.1938C>G
  • NM_001407853.1:c.1866C>G
  • NM_001407854.1:c.2079C>G
  • NM_001407858.1:c.2079C>G
  • NM_001407859.1:c.2079C>G
  • NM_001407860.1:c.2076C>G
  • NM_001407861.1:c.2076C>G
  • NM_001407862.1:c.1878C>G
  • NM_001407863.1:c.1956C>G
  • NM_001407874.1:c.1875C>G
  • NM_001407875.1:c.1875C>G
  • NM_001407879.1:c.1869C>G
  • NM_001407881.1:c.1869C>G
  • NM_001407882.1:c.1869C>G
  • NM_001407884.1:c.1869C>G
  • NM_001407885.1:c.1869C>G
  • NM_001407886.1:c.1869C>G
  • NM_001407887.1:c.1869C>G
  • NM_001407889.1:c.1869C>G
  • NM_001407894.1:c.1866C>G
  • NM_001407895.1:c.1866C>G
  • NM_001407896.1:c.1866C>G
  • NM_001407897.1:c.1866C>G
  • NM_001407898.1:c.1866C>G
  • NM_001407899.1:c.1866C>G
  • NM_001407900.1:c.1869C>G
  • NM_001407902.1:c.1869C>G
  • NM_001407904.1:c.1869C>G
  • NM_001407906.1:c.1869C>G
  • NM_001407907.1:c.1869C>G
  • NM_001407908.1:c.1869C>G
  • NM_001407909.1:c.1869C>G
  • NM_001407910.1:c.1869C>G
  • NM_001407915.1:c.1866C>G
  • NM_001407916.1:c.1866C>G
  • NM_001407917.1:c.1866C>G
  • NM_001407918.1:c.1866C>G
  • NM_001407919.1:c.1956C>G
  • NM_001407920.1:c.1815C>G
  • NM_001407921.1:c.1815C>G
  • NM_001407922.1:c.1815C>G
  • NM_001407923.1:c.1815C>G
  • NM_001407924.1:c.1815C>G
  • NM_001407925.1:c.1815C>G
  • NM_001407926.1:c.1815C>G
  • NM_001407927.1:c.1815C>G
  • NM_001407928.1:c.1815C>G
  • NM_001407929.1:c.1815C>G
  • NM_001407930.1:c.1812C>G
  • NM_001407931.1:c.1812C>G
  • NM_001407932.1:c.1812C>G
  • NM_001407933.1:c.1815C>G
  • NM_001407934.1:c.1812C>G
  • NM_001407935.1:c.1815C>G
  • NM_001407936.1:c.1812C>G
  • NM_001407937.1:c.1956C>G
  • NM_001407938.1:c.1956C>G
  • NM_001407939.1:c.1956C>G
  • NM_001407940.1:c.1953C>G
  • NM_001407941.1:c.1953C>G
  • NM_001407942.1:c.1938C>G
  • NM_001407943.1:c.1935C>G
  • NM_001407944.1:c.1938C>G
  • NM_001407945.1:c.1938C>G
  • NM_001407946.1:c.1746C>G
  • NM_001407947.1:c.1746C>G
  • NM_001407948.1:c.1746C>G
  • NM_001407949.1:c.1746C>G
  • NM_001407950.1:c.1746C>G
  • NM_001407951.1:c.1746C>G
  • NM_001407952.1:c.1746C>G
  • NM_001407953.1:c.1746C>G
  • NM_001407954.1:c.1743C>G
  • NM_001407955.1:c.1743C>G
  • NM_001407956.1:c.1743C>G
  • NM_001407957.1:c.1746C>G
  • NM_001407958.1:c.1743C>G
  • NM_001407959.1:c.1698C>G
  • NM_001407960.1:c.1698C>G
  • NM_001407962.1:c.1695C>G
  • NM_001407963.1:c.1698C>G
  • NM_001407964.1:c.1935C>G
  • NM_001407965.1:c.1575C>G
  • NM_001407966.1:c.1191C>G
  • NM_001407967.1:c.1191C>G
  • NM_001407968.1:c.787+1292C>G
  • NM_001407969.1:c.787+1292C>G
  • NM_001407970.1:c.787+1292C>G
  • NM_001407971.1:c.787+1292C>G
  • NM_001407972.1:c.784+1292C>G
  • NM_001407973.1:c.787+1292C>G
  • NM_001407974.1:c.787+1292C>G
  • NM_001407975.1:c.787+1292C>G
  • NM_001407976.1:c.787+1292C>G
  • NM_001407977.1:c.787+1292C>G
  • NM_001407978.1:c.787+1292C>G
  • NM_001407979.1:c.787+1292C>G
  • NM_001407980.1:c.787+1292C>G
  • NM_001407981.1:c.787+1292C>G
  • NM_001407982.1:c.787+1292C>G
  • NM_001407983.1:c.787+1292C>G
  • NM_001407984.1:c.784+1292C>G
  • NM_001407985.1:c.784+1292C>G
  • NM_001407986.1:c.784+1292C>G
  • NM_001407990.1:c.787+1292C>G
  • NM_001407991.1:c.784+1292C>G
  • NM_001407992.1:c.784+1292C>G
  • NM_001407993.1:c.787+1292C>G
  • NM_001408392.1:c.784+1292C>G
  • NM_001408396.1:c.784+1292C>G
  • NM_001408397.1:c.784+1292C>G
  • NM_001408398.1:c.784+1292C>G
  • NM_001408399.1:c.784+1292C>G
  • NM_001408400.1:c.784+1292C>G
  • NM_001408401.1:c.784+1292C>G
  • NM_001408402.1:c.784+1292C>G
  • NM_001408403.1:c.787+1292C>G
  • NM_001408404.1:c.787+1292C>G
  • NM_001408406.1:c.790+1289C>G
  • NM_001408407.1:c.784+1292C>G
  • NM_001408408.1:c.778+1292C>G
  • NM_001408409.1:c.709+1292C>G
  • NM_001408410.1:c.646+1292C>G
  • NM_001408411.1:c.709+1292C>G
  • NM_001408412.1:c.709+1292C>G
  • NM_001408413.1:c.706+1292C>G
  • NM_001408414.1:c.709+1292C>G
  • NM_001408415.1:c.709+1292C>G
  • NM_001408416.1:c.706+1292C>G
  • NM_001408418.1:c.670+2394C>G
  • NM_001408419.1:c.670+2394C>G
  • NM_001408420.1:c.670+2394C>G
  • NM_001408421.1:c.667+2394C>G
  • NM_001408422.1:c.670+2394C>G
  • NM_001408423.1:c.670+2394C>G
  • NM_001408424.1:c.667+2394C>G
  • NM_001408425.1:c.664+1292C>G
  • NM_001408426.1:c.664+1292C>G
  • NM_001408427.1:c.664+1292C>G
  • NM_001408428.1:c.664+1292C>G
  • NM_001408429.1:c.664+1292C>G
  • NM_001408430.1:c.664+1292C>G
  • NM_001408431.1:c.667+2394C>G
  • NM_001408432.1:c.661+1292C>G
  • NM_001408433.1:c.661+1292C>G
  • NM_001408434.1:c.661+1292C>G
  • NM_001408435.1:c.661+1292C>G
  • NM_001408436.1:c.664+1292C>G
  • NM_001408437.1:c.664+1292C>G
  • NM_001408438.1:c.664+1292C>G
  • NM_001408439.1:c.664+1292C>G
  • NM_001408440.1:c.664+1292C>G
  • NM_001408441.1:c.664+1292C>G
  • NM_001408442.1:c.664+1292C>G
  • NM_001408443.1:c.664+1292C>G
  • NM_001408444.1:c.664+1292C>G
  • NM_001408445.1:c.661+1292C>G
  • NM_001408446.1:c.661+1292C>G
  • NM_001408447.1:c.661+1292C>G
  • NM_001408448.1:c.661+1292C>G
  • NM_001408450.1:c.661+1292C>G
  • NM_001408451.1:c.652+1292C>G
  • NM_001408452.1:c.646+1292C>G
  • NM_001408453.1:c.646+1292C>G
  • NM_001408454.1:c.646+1292C>G
  • NM_001408455.1:c.646+1292C>G
  • NM_001408456.1:c.646+1292C>G
  • NM_001408457.1:c.646+1292C>G
  • NM_001408458.1:c.646+1292C>G
  • NM_001408459.1:c.646+1292C>G
  • NM_001408460.1:c.646+1292C>G
  • NM_001408461.1:c.646+1292C>G
  • NM_001408462.1:c.643+1292C>G
  • NM_001408463.1:c.643+1292C>G
  • NM_001408464.1:c.643+1292C>G
  • NM_001408465.1:c.643+1292C>G
  • NM_001408466.1:c.646+1292C>G
  • NM_001408467.1:c.646+1292C>G
  • NM_001408468.1:c.643+1292C>G
  • NM_001408469.1:c.646+1292C>G
  • NM_001408470.1:c.643+1292C>G
  • NM_001408472.1:c.787+1292C>G
  • NM_001408473.1:c.784+1292C>G
  • NM_001408474.1:c.586+1292C>G
  • NM_001408475.1:c.583+1292C>G
  • NM_001408476.1:c.586+1292C>G
  • NM_001408478.1:c.577+1292C>G
  • NM_001408479.1:c.577+1292C>G
  • NM_001408480.1:c.577+1292C>G
  • NM_001408481.1:c.577+1292C>G
  • NM_001408482.1:c.577+1292C>G
  • NM_001408483.1:c.577+1292C>G
  • NM_001408484.1:c.577+1292C>G
  • NM_001408485.1:c.577+1292C>G
  • NM_001408489.1:c.577+1292C>G
  • NM_001408490.1:c.574+1292C>G
  • NM_001408491.1:c.574+1292C>G
  • NM_001408492.1:c.577+1292C>G
  • NM_001408493.1:c.574+1292C>G
  • NM_001408494.1:c.548-2420C>G
  • NM_001408495.1:c.545-2420C>G
  • NM_001408496.1:c.523+1292C>G
  • NM_001408497.1:c.523+1292C>G
  • NM_001408498.1:c.523+1292C>G
  • NM_001408499.1:c.523+1292C>G
  • NM_001408500.1:c.523+1292C>G
  • NM_001408501.1:c.523+1292C>G
  • NM_001408502.1:c.454+1292C>G
  • NM_001408503.1:c.520+1292C>G
  • NM_001408504.1:c.520+1292C>G
  • NM_001408505.1:c.520+1292C>G
  • NM_001408506.1:c.460+2394C>G
  • NM_001408507.1:c.460+2394C>G
  • NM_001408508.1:c.451+1292C>G
  • NM_001408509.1:c.451+1292C>G
  • NM_001408510.1:c.406+1292C>G
  • NM_001408511.1:c.404-2420C>G
  • NM_001408512.1:c.283+1292C>G
  • NM_001408513.1:c.577+1292C>G
  • NM_001408514.1:c.577+1292C>G
  • NM_007294.4:c.2079C>GMANE SELECT
  • NM_007297.4:c.1938C>G
  • NM_007298.4:c.787+1292C>G
  • NM_007299.4:c.787+1292C>G
  • NM_007300.4:c.2079C>G
  • NP_001394500.1:p.Asp622Glu
  • NP_001394510.1:p.Asp693Glu
  • NP_001394511.1:p.Asp693Glu
  • NP_001394512.1:p.Asp693Glu
  • NP_001394514.1:p.Asp693Glu
  • NP_001394516.1:p.Asp692Glu
  • NP_001394519.1:p.Asp692Glu
  • NP_001394520.1:p.Asp692Glu
  • NP_001394522.1:p.Asp693Glu
  • NP_001394523.1:p.Asp693Glu
  • NP_001394525.1:p.Asp693Glu
  • NP_001394526.1:p.Asp693Glu
  • NP_001394527.1:p.Asp693Glu
  • NP_001394531.1:p.Asp693Glu
  • NP_001394532.1:p.Asp693Glu
  • NP_001394534.1:p.Asp693Glu
  • NP_001394539.1:p.Asp692Glu
  • NP_001394540.1:p.Asp692Glu
  • NP_001394541.1:p.Asp692Glu
  • NP_001394542.1:p.Asp692Glu
  • NP_001394543.1:p.Asp692Glu
  • NP_001394544.1:p.Asp692Glu
  • NP_001394545.1:p.Asp693Glu
  • NP_001394546.1:p.Asp693Glu
  • NP_001394547.1:p.Asp693Glu
  • NP_001394548.1:p.Asp693Glu
  • NP_001394549.1:p.Asp693Glu
  • NP_001394550.1:p.Asp693Glu
  • NP_001394551.1:p.Asp693Glu
  • NP_001394552.1:p.Asp693Glu
  • NP_001394553.1:p.Asp693Glu
  • NP_001394554.1:p.Asp693Glu
  • NP_001394555.1:p.Asp693Glu
  • NP_001394556.1:p.Asp692Glu
  • NP_001394557.1:p.Asp692Glu
  • NP_001394558.1:p.Asp692Glu
  • NP_001394559.1:p.Asp692Glu
  • NP_001394560.1:p.Asp692Glu
  • NP_001394561.1:p.Asp692Glu
  • NP_001394562.1:p.Asp692Glu
  • NP_001394563.1:p.Asp692Glu
  • NP_001394564.1:p.Asp692Glu
  • NP_001394565.1:p.Asp692Glu
  • NP_001394566.1:p.Asp692Glu
  • NP_001394567.1:p.Asp692Glu
  • NP_001394568.1:p.Asp693Glu
  • NP_001394569.1:p.Asp693Glu
  • NP_001394570.1:p.Asp693Glu
  • NP_001394571.1:p.Asp693Glu
  • NP_001394573.1:p.Asp692Glu
  • NP_001394574.1:p.Asp692Glu
  • NP_001394575.1:p.Asp690Glu
  • NP_001394576.1:p.Asp690Glu
  • NP_001394577.1:p.Asp652Glu
  • NP_001394578.1:p.Asp651Glu
  • NP_001394581.1:p.Asp693Glu
  • NP_001394582.1:p.Asp667Glu
  • NP_001394583.1:p.Asp667Glu
  • NP_001394584.1:p.Asp667Glu
  • NP_001394585.1:p.Asp667Glu
  • NP_001394586.1:p.Asp667Glu
  • NP_001394587.1:p.Asp667Glu
  • NP_001394588.1:p.Asp666Glu
  • NP_001394589.1:p.Asp666Glu
  • NP_001394590.1:p.Asp666Glu
  • NP_001394591.1:p.Asp666Glu
  • NP_001394592.1:p.Asp667Glu
  • NP_001394593.1:p.Asp652Glu
  • NP_001394594.1:p.Asp652Glu
  • NP_001394595.1:p.Asp652Glu
  • NP_001394596.1:p.Asp652Glu
  • NP_001394597.1:p.Asp652Glu
  • NP_001394598.1:p.Asp652Glu
  • NP_001394599.1:p.Asp651Glu
  • NP_001394600.1:p.Asp651Glu
  • NP_001394601.1:p.Asp651Glu
  • NP_001394602.1:p.Asp651Glu
  • NP_001394603.1:p.Asp652Glu
  • NP_001394604.1:p.Asp652Glu
  • NP_001394605.1:p.Asp652Glu
  • NP_001394606.1:p.Asp652Glu
  • NP_001394607.1:p.Asp652Glu
  • NP_001394608.1:p.Asp652Glu
  • NP_001394609.1:p.Asp652Glu
  • NP_001394610.1:p.Asp652Glu
  • NP_001394611.1:p.Asp652Glu
  • NP_001394612.1:p.Asp652Glu
  • NP_001394613.1:p.Asp693Glu
  • NP_001394614.1:p.Asp651Glu
  • NP_001394615.1:p.Asp651Glu
  • NP_001394616.1:p.Asp651Glu
  • NP_001394617.1:p.Asp651Glu
  • NP_001394618.1:p.Asp651Glu
  • NP_001394619.1:p.Asp651Glu
  • NP_001394620.1:p.Asp651Glu
  • NP_001394621.1:p.Asp646Glu
  • NP_001394623.1:p.Asp646Glu
  • NP_001394624.1:p.Asp646Glu
  • NP_001394625.1:p.Asp646Glu
  • NP_001394626.1:p.Asp646Glu
  • NP_001394627.1:p.Asp646Glu
  • NP_001394653.1:p.Asp646Glu
  • NP_001394654.1:p.Asp646Glu
  • NP_001394655.1:p.Asp646Glu
  • NP_001394656.1:p.Asp646Glu
  • NP_001394657.1:p.Asp646Glu
  • NP_001394658.1:p.Asp646Glu
  • NP_001394659.1:p.Asp646Glu
  • NP_001394660.1:p.Asp646Glu
  • NP_001394661.1:p.Asp646Glu
  • NP_001394662.1:p.Asp646Glu
  • NP_001394663.1:p.Asp646Glu
  • NP_001394664.1:p.Asp646Glu
  • NP_001394665.1:p.Asp646Glu
  • NP_001394666.1:p.Asp646Glu
  • NP_001394667.1:p.Asp646Glu
  • NP_001394668.1:p.Asp646Glu
  • NP_001394669.1:p.Asp645Glu
  • NP_001394670.1:p.Asp645Glu
  • NP_001394671.1:p.Asp645Glu
  • NP_001394672.1:p.Asp645Glu
  • NP_001394673.1:p.Asp645Glu
  • NP_001394674.1:p.Asp645Glu
  • NP_001394675.1:p.Asp645Glu
  • NP_001394676.1:p.Asp645Glu
  • NP_001394677.1:p.Asp645Glu
  • NP_001394678.1:p.Asp645Glu
  • NP_001394679.1:p.Asp646Glu
  • NP_001394680.1:p.Asp646Glu
  • NP_001394681.1:p.Asp646Glu
  • NP_001394767.1:p.Asp645Glu
  • NP_001394768.1:p.Asp645Glu
  • NP_001394770.1:p.Asp645Glu
  • NP_001394771.1:p.Asp645Glu
  • NP_001394772.1:p.Asp645Glu
  • NP_001394773.1:p.Asp645Glu
  • NP_001394774.1:p.Asp645Glu
  • NP_001394775.1:p.Asp645Glu
  • NP_001394776.1:p.Asp645Glu
  • NP_001394777.1:p.Asp645Glu
  • NP_001394778.1:p.Asp645Glu
  • NP_001394779.1:p.Asp646Glu
  • NP_001394780.1:p.Asp646Glu
  • NP_001394781.1:p.Asp646Glu
  • NP_001394782.1:p.Asp622Glu
  • NP_001394783.1:p.Asp693Glu
  • NP_001394787.1:p.Asp693Glu
  • NP_001394788.1:p.Asp693Glu
  • NP_001394789.1:p.Asp692Glu
  • NP_001394790.1:p.Asp692Glu
  • NP_001394791.1:p.Asp626Glu
  • NP_001394792.1:p.Asp652Glu
  • NP_001394803.1:p.Asp625Glu
  • NP_001394804.1:p.Asp625Glu
  • NP_001394808.1:p.Asp623Glu
  • NP_001394810.1:p.Asp623Glu
  • NP_001394811.1:p.Asp623Glu
  • NP_001394813.1:p.Asp623Glu
  • NP_001394814.1:p.Asp623Glu
  • NP_001394815.1:p.Asp623Glu
  • NP_001394816.1:p.Asp623Glu
  • NP_001394818.1:p.Asp623Glu
  • NP_001394823.1:p.Asp622Glu
  • NP_001394824.1:p.Asp622Glu
  • NP_001394825.1:p.Asp622Glu
  • NP_001394826.1:p.Asp622Glu
  • NP_001394827.1:p.Asp622Glu
  • NP_001394828.1:p.Asp622Glu
  • NP_001394829.1:p.Asp623Glu
  • NP_001394831.1:p.Asp623Glu
  • NP_001394833.1:p.Asp623Glu
  • NP_001394835.1:p.Asp623Glu
  • NP_001394836.1:p.Asp623Glu
  • NP_001394837.1:p.Asp623Glu
  • NP_001394838.1:p.Asp623Glu
  • NP_001394839.1:p.Asp623Glu
  • NP_001394844.1:p.Asp622Glu
  • NP_001394845.1:p.Asp622Glu
  • NP_001394846.1:p.Asp622Glu
  • NP_001394847.1:p.Asp622Glu
  • NP_001394848.1:p.Asp652Glu
  • NP_001394849.1:p.Asp605Glu
  • NP_001394850.1:p.Asp605Glu
  • NP_001394851.1:p.Asp605Glu
  • NP_001394852.1:p.Asp605Glu
  • NP_001394853.1:p.Asp605Glu
  • NP_001394854.1:p.Asp605Glu
  • NP_001394855.1:p.Asp605Glu
  • NP_001394856.1:p.Asp605Glu
  • NP_001394857.1:p.Asp605Glu
  • NP_001394858.1:p.Asp605Glu
  • NP_001394859.1:p.Asp604Glu
  • NP_001394860.1:p.Asp604Glu
  • NP_001394861.1:p.Asp604Glu
  • NP_001394862.1:p.Asp605Glu
  • NP_001394863.1:p.Asp604Glu
  • NP_001394864.1:p.Asp605Glu
  • NP_001394865.1:p.Asp604Glu
  • NP_001394866.1:p.Asp652Glu
  • NP_001394867.1:p.Asp652Glu
  • NP_001394868.1:p.Asp652Glu
  • NP_001394869.1:p.Asp651Glu
  • NP_001394870.1:p.Asp651Glu
  • NP_001394871.1:p.Asp646Glu
  • NP_001394872.1:p.Asp645Glu
  • NP_001394873.1:p.Asp646Glu
  • NP_001394874.1:p.Asp646Glu
  • NP_001394875.1:p.Asp582Glu
  • NP_001394876.1:p.Asp582Glu
  • NP_001394877.1:p.Asp582Glu
  • NP_001394878.1:p.Asp582Glu
  • NP_001394879.1:p.Asp582Glu
  • NP_001394880.1:p.Asp582Glu
  • NP_001394881.1:p.Asp582Glu
  • NP_001394882.1:p.Asp582Glu
  • NP_001394883.1:p.Asp581Glu
  • NP_001394884.1:p.Asp581Glu
  • NP_001394885.1:p.Asp581Glu
  • NP_001394886.1:p.Asp582Glu
  • NP_001394887.1:p.Asp581Glu
  • NP_001394888.1:p.Asp566Glu
  • NP_001394889.1:p.Asp566Glu
  • NP_001394891.1:p.Asp565Glu
  • NP_001394892.1:p.Asp566Glu
  • NP_001394893.1:p.Asp645Glu
  • NP_001394894.1:p.Asp525Glu
  • NP_001394895.1:p.Asp397Glu
  • NP_001394896.1:p.Asp397Glu
  • NP_009225.1:p.Asp693Glu
  • NP_009225.1:p.Asp693Glu
  • NP_009228.2:p.Asp646Glu
  • NP_009231.2:p.Asp693Glu
  • LRG_292t1:c.2079C>G
  • LRG_292:g.124532C>G
  • LRG_292p1:p.Asp693Glu
  • NC_000017.10:g.41245469G>C
  • NM_007294.3:c.2079C>G
  • NR_027676.2:n.2256C>G
Protein change:
D397E
Molecular consequence:
  • NM_001407968.1:c.787+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.787+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.787+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.787+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.784+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.787+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.787+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.787+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.787+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.787+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.787+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.787+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.787+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.787+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.787+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.787+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.784+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.784+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.784+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.787+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.784+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.784+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.787+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.784+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.784+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.784+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.784+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.784+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.784+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.784+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.784+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.787+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.787+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.790+1289C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.784+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.778+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.709+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.646+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.709+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.709+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.706+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.709+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.709+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.706+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.670+2394C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.670+2394C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.670+2394C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.667+2394C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.670+2394C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.670+2394C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.667+2394C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.664+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.664+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.664+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.664+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.664+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.664+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.667+2394C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.661+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.661+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.661+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.661+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.664+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.664+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.664+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.664+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.664+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.664+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.664+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.664+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.664+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.661+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.661+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.661+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.661+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.661+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.652+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.646+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.646+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.646+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.646+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.646+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.646+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.646+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.646+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.646+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.646+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.643+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.643+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.643+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.643+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.646+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.646+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.643+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.646+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.643+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.787+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.784+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.586+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.583+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.586+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.577+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.577+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.577+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.577+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.577+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.577+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.577+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.577+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.577+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.574+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.574+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.577+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.574+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-2420C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-2420C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.523+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.523+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.523+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.523+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.523+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.523+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.454+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.520+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.520+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.520+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.460+2394C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.460+2394C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.451+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.451+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.406+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-2420C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.283+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.577+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.577+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.787+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.787+1292C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.1866C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.2079C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.2079C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.2079C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.2079C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.2076C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.2076C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.2076C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.2079C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.2079C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.2079C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.2079C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.2079C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.2079C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.2079C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.2079C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.2076C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.2076C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.2076C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.2076C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.2076C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.2076C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.2079C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.2079C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.2079C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.2079C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.2079C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.2079C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.2079C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.2079C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.2079C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.2079C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.2079C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.2076C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.2076C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.2076C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.2076C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.2076C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.2076C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.2076C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.2076C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.2076C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.2076C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.2076C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.2076C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.2079C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.2079C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.2079C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.2079C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.2076C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.2076C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.2070C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.2070C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.1956C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.1953C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.2079C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.2001C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.2001C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.2001C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.2001C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.2001C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.2001C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.1998C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.1998C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.1998C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.1998C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.2001C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.1956C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.1956C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.1956C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.1956C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.1956C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.1956C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.1953C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.1953C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.1953C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.1953C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.1956C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.1956C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.1956C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.1956C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.1956C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.1956C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.1956C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.1956C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.1956C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.1956C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.2079C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.1953C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.1953C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.1953C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.1953C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.1953C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.1953C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.1953C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.1938C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.1938C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.1938C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.1938C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.1938C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.1938C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.1938C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.1938C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.1938C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.1938C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.1938C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.1938C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.1938C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.1938C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.1938C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.1938C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.1938C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.1938C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.1938C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.1938C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.1938C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.1938C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.1935C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.1935C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.1935C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.1935C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.1935C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.1935C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.1935C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.1935C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.1935C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.1935C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.1938C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.1938C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.1938C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.1935C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.1935C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.1935C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.1935C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.1935C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.1935C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.1935C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.1935C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.1935C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.1935C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.1935C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.1938C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.1938C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.1938C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.1866C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.2079C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.2079C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.2079C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.2076C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.2076C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.1878C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.1956C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.1875C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.1875C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.1869C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.1869C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.1869C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.1869C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.1869C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.1869C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.1869C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.1869C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.1866C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.1866C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.1866C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.1866C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.1866C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.1866C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.1869C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.1869C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.1869C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.1869C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.1869C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.1869C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.1869C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.1869C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.1866C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.1866C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.1866C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.1866C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.1956C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.1815C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.1815C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.1815C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.1815C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.1815C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.1815C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.1815C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.1815C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.1815C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.1815C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.1812C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.1812C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.1812C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.1815C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.1812C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.1815C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.1812C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.1956C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.1956C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.1956C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.1953C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.1953C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.1938C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.1935C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.1938C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.1938C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.1746C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.1746C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.1746C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.1746C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.1746C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.1746C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.1746C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.1746C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.1743C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.1743C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.1743C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.1746C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.1743C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.1698C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.1698C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.1695C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.1698C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.1935C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.1575C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.1191C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.1191C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.2079C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.1938C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.2079C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Familial cancer of breast
Synonyms:
Breast cancer, familial; Hereditary breast cancer
Identifiers:
MONDO: MONDO:0016419; MedGen: C0346153; OMIM: 114480

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004543930MGZ Medical Genetics Center
criteria provided, single submitter

(CSpec BRCA1/2ACMG Rules Specifications V1.1.0)		Likely benign
(Feb 9, 2024) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From MGZ Medical Genetics Center, SCV004543930.1

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

Description

ACMG codes applied following ENIGMA VCEP rules: BP1_STR, PM2_SUP

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

Last Updated: Sep 8, 2024