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NM_007294.4(BRCA1):c.2060A>C (p.Gln687Pro) AND not provided

Germline classification:
Uncertain significance (3 submissions)
Last evaluated:
Oct 16, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000587889.16

Allele description [Variation Report for NM_007294.4(BRCA1):c.2060A>C (p.Gln687Pro)]

NM_007294.4(BRCA1):c.2060A>C (p.Gln687Pro)

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.2060A>C (p.Gln687Pro)
Other names:
p.Gln687Pro
HGVS:
  • NC_000017.11:g.43093471T>G
  • NG_005905.2:g.124513A>C
  • NM_001407571.1:c.1847A>C
  • NM_001407581.1:c.2060A>C
  • NM_001407582.1:c.2060A>C
  • NM_001407583.1:c.2060A>C
  • NM_001407585.1:c.2060A>C
  • NM_001407587.1:c.2057A>C
  • NM_001407590.1:c.2057A>C
  • NM_001407591.1:c.2057A>C
  • NM_001407593.1:c.2060A>C
  • NM_001407594.1:c.2060A>C
  • NM_001407596.1:c.2060A>C
  • NM_001407597.1:c.2060A>C
  • NM_001407598.1:c.2060A>C
  • NM_001407602.1:c.2060A>C
  • NM_001407603.1:c.2060A>C
  • NM_001407605.1:c.2060A>C
  • NM_001407610.1:c.2057A>C
  • NM_001407611.1:c.2057A>C
  • NM_001407612.1:c.2057A>C
  • NM_001407613.1:c.2057A>C
  • NM_001407614.1:c.2057A>C
  • NM_001407615.1:c.2057A>C
  • NM_001407616.1:c.2060A>C
  • NM_001407617.1:c.2060A>C
  • NM_001407618.1:c.2060A>C
  • NM_001407619.1:c.2060A>C
  • NM_001407620.1:c.2060A>C
  • NM_001407621.1:c.2060A>C
  • NM_001407622.1:c.2060A>C
  • NM_001407623.1:c.2060A>C
  • NM_001407624.1:c.2060A>C
  • NM_001407625.1:c.2060A>C
  • NM_001407626.1:c.2060A>C
  • NM_001407627.1:c.2057A>C
  • NM_001407628.1:c.2057A>C
  • NM_001407629.1:c.2057A>C
  • NM_001407630.1:c.2057A>C
  • NM_001407631.1:c.2057A>C
  • NM_001407632.1:c.2057A>C
  • NM_001407633.1:c.2057A>C
  • NM_001407634.1:c.2057A>C
  • NM_001407635.1:c.2057A>C
  • NM_001407636.1:c.2057A>C
  • NM_001407637.1:c.2057A>C
  • NM_001407638.1:c.2057A>C
  • NM_001407639.1:c.2060A>C
  • NM_001407640.1:c.2060A>C
  • NM_001407641.1:c.2060A>C
  • NM_001407642.1:c.2060A>C
  • NM_001407644.1:c.2057A>C
  • NM_001407645.1:c.2057A>C
  • NM_001407646.1:c.2051A>C
  • NM_001407647.1:c.2051A>C
  • NM_001407648.1:c.1937A>C
  • NM_001407649.1:c.1934A>C
  • NM_001407652.1:c.2060A>C
  • NM_001407653.1:c.1982A>C
  • NM_001407654.1:c.1982A>C
  • NM_001407655.1:c.1982A>C
  • NM_001407656.1:c.1982A>C
  • NM_001407657.1:c.1982A>C
  • NM_001407658.1:c.1982A>C
  • NM_001407659.1:c.1979A>C
  • NM_001407660.1:c.1979A>C
  • NM_001407661.1:c.1979A>C
  • NM_001407662.1:c.1979A>C
  • NM_001407663.1:c.1982A>C
  • NM_001407664.1:c.1937A>C
  • NM_001407665.1:c.1937A>C
  • NM_001407666.1:c.1937A>C
  • NM_001407667.1:c.1937A>C
  • NM_001407668.1:c.1937A>C
  • NM_001407669.1:c.1937A>C
  • NM_001407670.1:c.1934A>C
  • NM_001407671.1:c.1934A>C
  • NM_001407672.1:c.1934A>C
  • NM_001407673.1:c.1934A>C
  • NM_001407674.1:c.1937A>C
  • NM_001407675.1:c.1937A>C
  • NM_001407676.1:c.1937A>C
  • NM_001407677.1:c.1937A>C
  • NM_001407678.1:c.1937A>C
  • NM_001407679.1:c.1937A>C
  • NM_001407680.1:c.1937A>C
  • NM_001407681.1:c.1937A>C
  • NM_001407682.1:c.1937A>C
  • NM_001407683.1:c.1937A>C
  • NM_001407684.1:c.2060A>C
  • NM_001407685.1:c.1934A>C
  • NM_001407686.1:c.1934A>C
  • NM_001407687.1:c.1934A>C
  • NM_001407688.1:c.1934A>C
  • NM_001407689.1:c.1934A>C
  • NM_001407690.1:c.1934A>C
  • NM_001407691.1:c.1934A>C
  • NM_001407692.1:c.1919A>C
  • NM_001407694.1:c.1919A>C
  • NM_001407695.1:c.1919A>C
  • NM_001407696.1:c.1919A>C
  • NM_001407697.1:c.1919A>C
  • NM_001407698.1:c.1919A>C
  • NM_001407724.1:c.1919A>C
  • NM_001407725.1:c.1919A>C
  • NM_001407726.1:c.1919A>C
  • NM_001407727.1:c.1919A>C
  • NM_001407728.1:c.1919A>C
  • NM_001407729.1:c.1919A>C
  • NM_001407730.1:c.1919A>C
  • NM_001407731.1:c.1919A>C
  • NM_001407732.1:c.1919A>C
  • NM_001407733.1:c.1919A>C
  • NM_001407734.1:c.1919A>C
  • NM_001407735.1:c.1919A>C
  • NM_001407736.1:c.1919A>C
  • NM_001407737.1:c.1919A>C
  • NM_001407738.1:c.1919A>C
  • NM_001407739.1:c.1919A>C
  • NM_001407740.1:c.1916A>C
  • NM_001407741.1:c.1916A>C
  • NM_001407742.1:c.1916A>C
  • NM_001407743.1:c.1916A>C
  • NM_001407744.1:c.1916A>C
  • NM_001407745.1:c.1916A>C
  • NM_001407746.1:c.1916A>C
  • NM_001407747.1:c.1916A>C
  • NM_001407748.1:c.1916A>C
  • NM_001407749.1:c.1916A>C
  • NM_001407750.1:c.1919A>C
  • NM_001407751.1:c.1919A>C
  • NM_001407752.1:c.1919A>C
  • NM_001407838.1:c.1916A>C
  • NM_001407839.1:c.1916A>C
  • NM_001407841.1:c.1916A>C
  • NM_001407842.1:c.1916A>C
  • NM_001407843.1:c.1916A>C
  • NM_001407844.1:c.1916A>C
  • NM_001407845.1:c.1916A>C
  • NM_001407846.1:c.1916A>C
  • NM_001407847.1:c.1916A>C
  • NM_001407848.1:c.1916A>C
  • NM_001407849.1:c.1916A>C
  • NM_001407850.1:c.1919A>C
  • NM_001407851.1:c.1919A>C
  • NM_001407852.1:c.1919A>C
  • NM_001407853.1:c.1847A>C
  • NM_001407854.1:c.2060A>C
  • NM_001407858.1:c.2060A>C
  • NM_001407859.1:c.2060A>C
  • NM_001407860.1:c.2057A>C
  • NM_001407861.1:c.2057A>C
  • NM_001407862.1:c.1859A>C
  • NM_001407863.1:c.1937A>C
  • NM_001407874.1:c.1856A>C
  • NM_001407875.1:c.1856A>C
  • NM_001407879.1:c.1850A>C
  • NM_001407881.1:c.1850A>C
  • NM_001407882.1:c.1850A>C
  • NM_001407884.1:c.1850A>C
  • NM_001407885.1:c.1850A>C
  • NM_001407886.1:c.1850A>C
  • NM_001407887.1:c.1850A>C
  • NM_001407889.1:c.1850A>C
  • NM_001407894.1:c.1847A>C
  • NM_001407895.1:c.1847A>C
  • NM_001407896.1:c.1847A>C
  • NM_001407897.1:c.1847A>C
  • NM_001407898.1:c.1847A>C
  • NM_001407899.1:c.1847A>C
  • NM_001407900.1:c.1850A>C
  • NM_001407902.1:c.1850A>C
  • NM_001407904.1:c.1850A>C
  • NM_001407906.1:c.1850A>C
  • NM_001407907.1:c.1850A>C
  • NM_001407908.1:c.1850A>C
  • NM_001407909.1:c.1850A>C
  • NM_001407910.1:c.1850A>C
  • NM_001407915.1:c.1847A>C
  • NM_001407916.1:c.1847A>C
  • NM_001407917.1:c.1847A>C
  • NM_001407918.1:c.1847A>C
  • NM_001407919.1:c.1937A>C
  • NM_001407920.1:c.1796A>C
  • NM_001407921.1:c.1796A>C
  • NM_001407922.1:c.1796A>C
  • NM_001407923.1:c.1796A>C
  • NM_001407924.1:c.1796A>C
  • NM_001407925.1:c.1796A>C
  • NM_001407926.1:c.1796A>C
  • NM_001407927.1:c.1796A>C
  • NM_001407928.1:c.1796A>C
  • NM_001407929.1:c.1796A>C
  • NM_001407930.1:c.1793A>C
  • NM_001407931.1:c.1793A>C
  • NM_001407932.1:c.1793A>C
  • NM_001407933.1:c.1796A>C
  • NM_001407934.1:c.1793A>C
  • NM_001407935.1:c.1796A>C
  • NM_001407936.1:c.1793A>C
  • NM_001407937.1:c.1937A>C
  • NM_001407938.1:c.1937A>C
  • NM_001407939.1:c.1937A>C
  • NM_001407940.1:c.1934A>C
  • NM_001407941.1:c.1934A>C
  • NM_001407942.1:c.1919A>C
  • NM_001407943.1:c.1916A>C
  • NM_001407944.1:c.1919A>C
  • NM_001407945.1:c.1919A>C
  • NM_001407946.1:c.1727A>C
  • NM_001407947.1:c.1727A>C
  • NM_001407948.1:c.1727A>C
  • NM_001407949.1:c.1727A>C
  • NM_001407950.1:c.1727A>C
  • NM_001407951.1:c.1727A>C
  • NM_001407952.1:c.1727A>C
  • NM_001407953.1:c.1727A>C
  • NM_001407954.1:c.1724A>C
  • NM_001407955.1:c.1724A>C
  • NM_001407956.1:c.1724A>C
  • NM_001407957.1:c.1727A>C
  • NM_001407958.1:c.1724A>C
  • NM_001407959.1:c.1679A>C
  • NM_001407960.1:c.1679A>C
  • NM_001407962.1:c.1676A>C
  • NM_001407963.1:c.1679A>C
  • NM_001407964.1:c.1916A>C
  • NM_001407965.1:c.1556A>C
  • NM_001407966.1:c.1172A>C
  • NM_001407967.1:c.1172A>C
  • NM_001407968.1:c.787+1273A>C
  • NM_001407969.1:c.787+1273A>C
  • NM_001407970.1:c.787+1273A>C
  • NM_001407971.1:c.787+1273A>C
  • NM_001407972.1:c.784+1273A>C
  • NM_001407973.1:c.787+1273A>C
  • NM_001407974.1:c.787+1273A>C
  • NM_001407975.1:c.787+1273A>C
  • NM_001407976.1:c.787+1273A>C
  • NM_001407977.1:c.787+1273A>C
  • NM_001407978.1:c.787+1273A>C
  • NM_001407979.1:c.787+1273A>C
  • NM_001407980.1:c.787+1273A>C
  • NM_001407981.1:c.787+1273A>C
  • NM_001407982.1:c.787+1273A>C
  • NM_001407983.1:c.787+1273A>C
  • NM_001407984.1:c.784+1273A>C
  • NM_001407985.1:c.784+1273A>C
  • NM_001407986.1:c.784+1273A>C
  • NM_001407990.1:c.787+1273A>C
  • NM_001407991.1:c.784+1273A>C
  • NM_001407992.1:c.784+1273A>C
  • NM_001407993.1:c.787+1273A>C
  • NM_001408392.1:c.784+1273A>C
  • NM_001408396.1:c.784+1273A>C
  • NM_001408397.1:c.784+1273A>C
  • NM_001408398.1:c.784+1273A>C
  • NM_001408399.1:c.784+1273A>C
  • NM_001408400.1:c.784+1273A>C
  • NM_001408401.1:c.784+1273A>C
  • NM_001408402.1:c.784+1273A>C
  • NM_001408403.1:c.787+1273A>C
  • NM_001408404.1:c.787+1273A>C
  • NM_001408406.1:c.790+1270A>C
  • NM_001408407.1:c.784+1273A>C
  • NM_001408408.1:c.778+1273A>C
  • NM_001408409.1:c.709+1273A>C
  • NM_001408410.1:c.646+1273A>C
  • NM_001408411.1:c.709+1273A>C
  • NM_001408412.1:c.709+1273A>C
  • NM_001408413.1:c.706+1273A>C
  • NM_001408414.1:c.709+1273A>C
  • NM_001408415.1:c.709+1273A>C
  • NM_001408416.1:c.706+1273A>C
  • NM_001408418.1:c.670+2375A>C
  • NM_001408419.1:c.670+2375A>C
  • NM_001408420.1:c.670+2375A>C
  • NM_001408421.1:c.667+2375A>C
  • NM_001408422.1:c.670+2375A>C
  • NM_001408423.1:c.670+2375A>C
  • NM_001408424.1:c.667+2375A>C
  • NM_001408425.1:c.664+1273A>C
  • NM_001408426.1:c.664+1273A>C
  • NM_001408427.1:c.664+1273A>C
  • NM_001408428.1:c.664+1273A>C
  • NM_001408429.1:c.664+1273A>C
  • NM_001408430.1:c.664+1273A>C
  • NM_001408431.1:c.667+2375A>C
  • NM_001408432.1:c.661+1273A>C
  • NM_001408433.1:c.661+1273A>C
  • NM_001408434.1:c.661+1273A>C
  • NM_001408435.1:c.661+1273A>C
  • NM_001408436.1:c.664+1273A>C
  • NM_001408437.1:c.664+1273A>C
  • NM_001408438.1:c.664+1273A>C
  • NM_001408439.1:c.664+1273A>C
  • NM_001408440.1:c.664+1273A>C
  • NM_001408441.1:c.664+1273A>C
  • NM_001408442.1:c.664+1273A>C
  • NM_001408443.1:c.664+1273A>C
  • NM_001408444.1:c.664+1273A>C
  • NM_001408445.1:c.661+1273A>C
  • NM_001408446.1:c.661+1273A>C
  • NM_001408447.1:c.661+1273A>C
  • NM_001408448.1:c.661+1273A>C
  • NM_001408450.1:c.661+1273A>C
  • NM_001408451.1:c.652+1273A>C
  • NM_001408452.1:c.646+1273A>C
  • NM_001408453.1:c.646+1273A>C
  • NM_001408454.1:c.646+1273A>C
  • NM_001408455.1:c.646+1273A>C
  • NM_001408456.1:c.646+1273A>C
  • NM_001408457.1:c.646+1273A>C
  • NM_001408458.1:c.646+1273A>C
  • NM_001408459.1:c.646+1273A>C
  • NM_001408460.1:c.646+1273A>C
  • NM_001408461.1:c.646+1273A>C
  • NM_001408462.1:c.643+1273A>C
  • NM_001408463.1:c.643+1273A>C
  • NM_001408464.1:c.643+1273A>C
  • NM_001408465.1:c.643+1273A>C
  • NM_001408466.1:c.646+1273A>C
  • NM_001408467.1:c.646+1273A>C
  • NM_001408468.1:c.643+1273A>C
  • NM_001408469.1:c.646+1273A>C
  • NM_001408470.1:c.643+1273A>C
  • NM_001408472.1:c.787+1273A>C
  • NM_001408473.1:c.784+1273A>C
  • NM_001408474.1:c.586+1273A>C
  • NM_001408475.1:c.583+1273A>C
  • NM_001408476.1:c.586+1273A>C
  • NM_001408478.1:c.577+1273A>C
  • NM_001408479.1:c.577+1273A>C
  • NM_001408480.1:c.577+1273A>C
  • NM_001408481.1:c.577+1273A>C
  • NM_001408482.1:c.577+1273A>C
  • NM_001408483.1:c.577+1273A>C
  • NM_001408484.1:c.577+1273A>C
  • NM_001408485.1:c.577+1273A>C
  • NM_001408489.1:c.577+1273A>C
  • NM_001408490.1:c.574+1273A>C
  • NM_001408491.1:c.574+1273A>C
  • NM_001408492.1:c.577+1273A>C
  • NM_001408493.1:c.574+1273A>C
  • NM_001408494.1:c.548-2439A>C
  • NM_001408495.1:c.545-2439A>C
  • NM_001408496.1:c.523+1273A>C
  • NM_001408497.1:c.523+1273A>C
  • NM_001408498.1:c.523+1273A>C
  • NM_001408499.1:c.523+1273A>C
  • NM_001408500.1:c.523+1273A>C
  • NM_001408501.1:c.523+1273A>C
  • NM_001408502.1:c.454+1273A>C
  • NM_001408503.1:c.520+1273A>C
  • NM_001408504.1:c.520+1273A>C
  • NM_001408505.1:c.520+1273A>C
  • NM_001408506.1:c.460+2375A>C
  • NM_001408507.1:c.460+2375A>C
  • NM_001408508.1:c.451+1273A>C
  • NM_001408509.1:c.451+1273A>C
  • NM_001408510.1:c.406+1273A>C
  • NM_001408511.1:c.404-2439A>C
  • NM_001408512.1:c.283+1273A>C
  • NM_001408513.1:c.577+1273A>C
  • NM_001408514.1:c.577+1273A>C
  • NM_007294.4:c.2060A>CMANE SELECT
  • NM_007297.4:c.1919A>C
  • NM_007298.4:c.787+1273A>C
  • NM_007299.4:c.787+1273A>C
  • NM_007300.4:c.2060A>C
  • NP_001394500.1:p.Gln616Pro
  • NP_001394510.1:p.Gln687Pro
  • NP_001394511.1:p.Gln687Pro
  • NP_001394512.1:p.Gln687Pro
  • NP_001394514.1:p.Gln687Pro
  • NP_001394516.1:p.Gln686Pro
  • NP_001394519.1:p.Gln686Pro
  • NP_001394520.1:p.Gln686Pro
  • NP_001394522.1:p.Gln687Pro
  • NP_001394523.1:p.Gln687Pro
  • NP_001394525.1:p.Gln687Pro
  • NP_001394526.1:p.Gln687Pro
  • NP_001394527.1:p.Gln687Pro
  • NP_001394531.1:p.Gln687Pro
  • NP_001394532.1:p.Gln687Pro
  • NP_001394534.1:p.Gln687Pro
  • NP_001394539.1:p.Gln686Pro
  • NP_001394540.1:p.Gln686Pro
  • NP_001394541.1:p.Gln686Pro
  • NP_001394542.1:p.Gln686Pro
  • NP_001394543.1:p.Gln686Pro
  • NP_001394544.1:p.Gln686Pro
  • NP_001394545.1:p.Gln687Pro
  • NP_001394546.1:p.Gln687Pro
  • NP_001394547.1:p.Gln687Pro
  • NP_001394548.1:p.Gln687Pro
  • NP_001394549.1:p.Gln687Pro
  • NP_001394550.1:p.Gln687Pro
  • NP_001394551.1:p.Gln687Pro
  • NP_001394552.1:p.Gln687Pro
  • NP_001394553.1:p.Gln687Pro
  • NP_001394554.1:p.Gln687Pro
  • NP_001394555.1:p.Gln687Pro
  • NP_001394556.1:p.Gln686Pro
  • NP_001394557.1:p.Gln686Pro
  • NP_001394558.1:p.Gln686Pro
  • NP_001394559.1:p.Gln686Pro
  • NP_001394560.1:p.Gln686Pro
  • NP_001394561.1:p.Gln686Pro
  • NP_001394562.1:p.Gln686Pro
  • NP_001394563.1:p.Gln686Pro
  • NP_001394564.1:p.Gln686Pro
  • NP_001394565.1:p.Gln686Pro
  • NP_001394566.1:p.Gln686Pro
  • NP_001394567.1:p.Gln686Pro
  • NP_001394568.1:p.Gln687Pro
  • NP_001394569.1:p.Gln687Pro
  • NP_001394570.1:p.Gln687Pro
  • NP_001394571.1:p.Gln687Pro
  • NP_001394573.1:p.Gln686Pro
  • NP_001394574.1:p.Gln686Pro
  • NP_001394575.1:p.Gln684Pro
  • NP_001394576.1:p.Gln684Pro
  • NP_001394577.1:p.Gln646Pro
  • NP_001394578.1:p.Gln645Pro
  • NP_001394581.1:p.Gln687Pro
  • NP_001394582.1:p.Gln661Pro
  • NP_001394583.1:p.Gln661Pro
  • NP_001394584.1:p.Gln661Pro
  • NP_001394585.1:p.Gln661Pro
  • NP_001394586.1:p.Gln661Pro
  • NP_001394587.1:p.Gln661Pro
  • NP_001394588.1:p.Gln660Pro
  • NP_001394589.1:p.Gln660Pro
  • NP_001394590.1:p.Gln660Pro
  • NP_001394591.1:p.Gln660Pro
  • NP_001394592.1:p.Gln661Pro
  • NP_001394593.1:p.Gln646Pro
  • NP_001394594.1:p.Gln646Pro
  • NP_001394595.1:p.Gln646Pro
  • NP_001394596.1:p.Gln646Pro
  • NP_001394597.1:p.Gln646Pro
  • NP_001394598.1:p.Gln646Pro
  • NP_001394599.1:p.Gln645Pro
  • NP_001394600.1:p.Gln645Pro
  • NP_001394601.1:p.Gln645Pro
  • NP_001394602.1:p.Gln645Pro
  • NP_001394603.1:p.Gln646Pro
  • NP_001394604.1:p.Gln646Pro
  • NP_001394605.1:p.Gln646Pro
  • NP_001394606.1:p.Gln646Pro
  • NP_001394607.1:p.Gln646Pro
  • NP_001394608.1:p.Gln646Pro
  • NP_001394609.1:p.Gln646Pro
  • NP_001394610.1:p.Gln646Pro
  • NP_001394611.1:p.Gln646Pro
  • NP_001394612.1:p.Gln646Pro
  • NP_001394613.1:p.Gln687Pro
  • NP_001394614.1:p.Gln645Pro
  • NP_001394615.1:p.Gln645Pro
  • NP_001394616.1:p.Gln645Pro
  • NP_001394617.1:p.Gln645Pro
  • NP_001394618.1:p.Gln645Pro
  • NP_001394619.1:p.Gln645Pro
  • NP_001394620.1:p.Gln645Pro
  • NP_001394621.1:p.Gln640Pro
  • NP_001394623.1:p.Gln640Pro
  • NP_001394624.1:p.Gln640Pro
  • NP_001394625.1:p.Gln640Pro
  • NP_001394626.1:p.Gln640Pro
  • NP_001394627.1:p.Gln640Pro
  • NP_001394653.1:p.Gln640Pro
  • NP_001394654.1:p.Gln640Pro
  • NP_001394655.1:p.Gln640Pro
  • NP_001394656.1:p.Gln640Pro
  • NP_001394657.1:p.Gln640Pro
  • NP_001394658.1:p.Gln640Pro
  • NP_001394659.1:p.Gln640Pro
  • NP_001394660.1:p.Gln640Pro
  • NP_001394661.1:p.Gln640Pro
  • NP_001394662.1:p.Gln640Pro
  • NP_001394663.1:p.Gln640Pro
  • NP_001394664.1:p.Gln640Pro
  • NP_001394665.1:p.Gln640Pro
  • NP_001394666.1:p.Gln640Pro
  • NP_001394667.1:p.Gln640Pro
  • NP_001394668.1:p.Gln640Pro
  • NP_001394669.1:p.Gln639Pro
  • NP_001394670.1:p.Gln639Pro
  • NP_001394671.1:p.Gln639Pro
  • NP_001394672.1:p.Gln639Pro
  • NP_001394673.1:p.Gln639Pro
  • NP_001394674.1:p.Gln639Pro
  • NP_001394675.1:p.Gln639Pro
  • NP_001394676.1:p.Gln639Pro
  • NP_001394677.1:p.Gln639Pro
  • NP_001394678.1:p.Gln639Pro
  • NP_001394679.1:p.Gln640Pro
  • NP_001394680.1:p.Gln640Pro
  • NP_001394681.1:p.Gln640Pro
  • NP_001394767.1:p.Gln639Pro
  • NP_001394768.1:p.Gln639Pro
  • NP_001394770.1:p.Gln639Pro
  • NP_001394771.1:p.Gln639Pro
  • NP_001394772.1:p.Gln639Pro
  • NP_001394773.1:p.Gln639Pro
  • NP_001394774.1:p.Gln639Pro
  • NP_001394775.1:p.Gln639Pro
  • NP_001394776.1:p.Gln639Pro
  • NP_001394777.1:p.Gln639Pro
  • NP_001394778.1:p.Gln639Pro
  • NP_001394779.1:p.Gln640Pro
  • NP_001394780.1:p.Gln640Pro
  • NP_001394781.1:p.Gln640Pro
  • NP_001394782.1:p.Gln616Pro
  • NP_001394783.1:p.Gln687Pro
  • NP_001394787.1:p.Gln687Pro
  • NP_001394788.1:p.Gln687Pro
  • NP_001394789.1:p.Gln686Pro
  • NP_001394790.1:p.Gln686Pro
  • NP_001394791.1:p.Gln620Pro
  • NP_001394792.1:p.Gln646Pro
  • NP_001394803.1:p.Gln619Pro
  • NP_001394804.1:p.Gln619Pro
  • NP_001394808.1:p.Gln617Pro
  • NP_001394810.1:p.Gln617Pro
  • NP_001394811.1:p.Gln617Pro
  • NP_001394813.1:p.Gln617Pro
  • NP_001394814.1:p.Gln617Pro
  • NP_001394815.1:p.Gln617Pro
  • NP_001394816.1:p.Gln617Pro
  • NP_001394818.1:p.Gln617Pro
  • NP_001394823.1:p.Gln616Pro
  • NP_001394824.1:p.Gln616Pro
  • NP_001394825.1:p.Gln616Pro
  • NP_001394826.1:p.Gln616Pro
  • NP_001394827.1:p.Gln616Pro
  • NP_001394828.1:p.Gln616Pro
  • NP_001394829.1:p.Gln617Pro
  • NP_001394831.1:p.Gln617Pro
  • NP_001394833.1:p.Gln617Pro
  • NP_001394835.1:p.Gln617Pro
  • NP_001394836.1:p.Gln617Pro
  • NP_001394837.1:p.Gln617Pro
  • NP_001394838.1:p.Gln617Pro
  • NP_001394839.1:p.Gln617Pro
  • NP_001394844.1:p.Gln616Pro
  • NP_001394845.1:p.Gln616Pro
  • NP_001394846.1:p.Gln616Pro
  • NP_001394847.1:p.Gln616Pro
  • NP_001394848.1:p.Gln646Pro
  • NP_001394849.1:p.Gln599Pro
  • NP_001394850.1:p.Gln599Pro
  • NP_001394851.1:p.Gln599Pro
  • NP_001394852.1:p.Gln599Pro
  • NP_001394853.1:p.Gln599Pro
  • NP_001394854.1:p.Gln599Pro
  • NP_001394855.1:p.Gln599Pro
  • NP_001394856.1:p.Gln599Pro
  • NP_001394857.1:p.Gln599Pro
  • NP_001394858.1:p.Gln599Pro
  • NP_001394859.1:p.Gln598Pro
  • NP_001394860.1:p.Gln598Pro
  • NP_001394861.1:p.Gln598Pro
  • NP_001394862.1:p.Gln599Pro
  • NP_001394863.1:p.Gln598Pro
  • NP_001394864.1:p.Gln599Pro
  • NP_001394865.1:p.Gln598Pro
  • NP_001394866.1:p.Gln646Pro
  • NP_001394867.1:p.Gln646Pro
  • NP_001394868.1:p.Gln646Pro
  • NP_001394869.1:p.Gln645Pro
  • NP_001394870.1:p.Gln645Pro
  • NP_001394871.1:p.Gln640Pro
  • NP_001394872.1:p.Gln639Pro
  • NP_001394873.1:p.Gln640Pro
  • NP_001394874.1:p.Gln640Pro
  • NP_001394875.1:p.Gln576Pro
  • NP_001394876.1:p.Gln576Pro
  • NP_001394877.1:p.Gln576Pro
  • NP_001394878.1:p.Gln576Pro
  • NP_001394879.1:p.Gln576Pro
  • NP_001394880.1:p.Gln576Pro
  • NP_001394881.1:p.Gln576Pro
  • NP_001394882.1:p.Gln576Pro
  • NP_001394883.1:p.Gln575Pro
  • NP_001394884.1:p.Gln575Pro
  • NP_001394885.1:p.Gln575Pro
  • NP_001394886.1:p.Gln576Pro
  • NP_001394887.1:p.Gln575Pro
  • NP_001394888.1:p.Gln560Pro
  • NP_001394889.1:p.Gln560Pro
  • NP_001394891.1:p.Gln559Pro
  • NP_001394892.1:p.Gln560Pro
  • NP_001394893.1:p.Gln639Pro
  • NP_001394894.1:p.Gln519Pro
  • NP_001394895.1:p.Gln391Pro
  • NP_001394896.1:p.Gln391Pro
  • NP_009225.1:p.Gln687Pro
  • NP_009225.1:p.Gln687Pro
  • NP_009228.2:p.Gln640Pro
  • NP_009231.2:p.Gln687Pro
  • LRG_292t1:c.2060A>C
  • LRG_292:g.124513A>C
  • LRG_292p1:p.Gln687Pro
  • NC_000017.10:g.41245488T>G
  • NM_007294.3:c.2060A>C
  • NR_027676.1:n.2196A>C
  • U14680.1:n.2179A>C
  • p.Q687P
Nucleotide change:
2179A>C
Protein change:
Q391P
Links:
dbSNP: rs28897680
NCBI 1000 Genomes Browser:
rs28897680
Molecular consequence:
  • NM_001407968.1:c.787+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.787+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.787+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.787+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.784+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.787+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.787+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.787+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.787+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.787+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.787+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.787+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.787+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.787+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.787+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.787+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.784+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.784+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.784+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.787+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.784+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.784+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.787+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.784+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.784+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.784+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.784+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.784+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.784+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.784+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.784+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.787+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.787+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.790+1270A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.784+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.778+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.709+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.646+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.709+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.709+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.706+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.709+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.709+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.706+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.670+2375A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.670+2375A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.670+2375A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.667+2375A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.670+2375A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.670+2375A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.667+2375A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.664+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.664+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.664+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.664+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.664+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.664+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.667+2375A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.661+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.661+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.661+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.661+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.664+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.664+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.664+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.664+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.664+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.664+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.664+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.664+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.664+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.661+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.661+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.661+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.661+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.661+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.652+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.646+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.646+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.646+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.646+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.646+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.646+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.646+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.646+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.646+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.646+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.643+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.643+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.643+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.643+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.646+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.646+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.643+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.646+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.643+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.787+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.784+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.586+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.583+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.586+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.577+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.577+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.577+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.577+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.577+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.577+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.577+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.577+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.577+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.574+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.574+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.577+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.574+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-2439A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-2439A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.523+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.523+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.523+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.523+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.523+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.523+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.454+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.520+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.520+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.520+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.460+2375A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.460+2375A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.451+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.451+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.406+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-2439A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.283+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.577+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.577+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.787+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.787+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.1847A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.2060A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.2060A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.2060A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.2060A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.2057A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.2057A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.2057A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.2060A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.2060A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.2060A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.2060A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.2060A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.2060A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.2060A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.2060A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.2057A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.2057A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.2057A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.2057A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.2057A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.2057A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.2060A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.2060A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.2060A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.2060A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.2060A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.2060A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.2060A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.2060A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.2060A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.2060A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.2060A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.2057A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.2057A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.2057A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.2057A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.2057A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.2057A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.2057A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.2057A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.2057A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.2057A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.2057A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.2057A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.2060A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.2060A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.2060A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.2060A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.2057A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.2057A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.2051A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.2051A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.1937A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.1934A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.2060A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.1982A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.1982A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.1982A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.1982A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.1982A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.1982A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.1979A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.1979A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.1979A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.1979A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.1982A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.1937A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.1937A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.1937A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.1937A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.1937A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.1937A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.1934A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.1934A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.1934A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.1934A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.1937A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.1937A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.1937A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.1937A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.1937A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.1937A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.1937A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.1937A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.1937A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.1937A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.2060A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.1934A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.1934A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.1934A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.1934A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.1934A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.1934A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.1934A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.1919A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.1919A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.1919A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.1919A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.1919A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.1919A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.1919A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.1919A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.1919A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.1919A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.1919A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.1919A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.1919A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.1919A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.1919A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.1919A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.1919A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.1919A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.1919A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.1919A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.1919A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.1919A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.1916A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.1916A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.1916A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.1916A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.1916A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.1916A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.1916A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.1916A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.1916A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.1916A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.1919A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.1919A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.1919A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.1916A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.1916A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.1916A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.1916A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.1916A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.1916A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.1916A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.1916A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.1916A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.1916A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.1916A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.1919A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.1919A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.1919A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.1847A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.2060A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.2060A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.2060A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.2057A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.2057A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.1859A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.1937A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.1856A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.1856A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.1850A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.1850A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.1850A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.1850A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.1850A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.1850A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.1850A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.1850A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.1847A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.1847A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.1847A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.1847A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.1847A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.1847A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.1850A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.1850A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.1850A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.1850A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.1850A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.1850A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.1850A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.1850A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.1847A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.1847A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.1847A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.1847A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.1937A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.1796A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.1796A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.1796A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.1796A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.1796A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.1796A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.1796A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.1796A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.1796A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.1796A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.1793A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.1793A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.1793A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.1796A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.1793A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.1796A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.1793A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.1937A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.1937A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.1937A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.1934A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.1934A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.1919A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.1916A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.1919A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.1919A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.1727A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.1727A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.1727A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.1727A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.1727A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.1727A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.1727A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.1727A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.1724A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.1724A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.1724A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.1727A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.1724A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.1679A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.1679A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.1676A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.1679A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.1916A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.1556A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.1172A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.1172A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.2060A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.1919A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.2060A>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000565959GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Oct 16, 2023) 		germlineclinical testing

Citation Link,

SCV002046409Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Uncertain significance
(Jun 3, 2023) 		unknownclinical testing

PubMed (13)
[See all records that cite these PMIDs]

SCV004224364Mayo Clinic Laboratories, Mayo Clinic
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jun 21, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants.

Cline MS, Babbi G, Bonache S, Cao Y, Casadio R, de la Cruz X, Díez O, Gutiérrez-Enríquez S, Katsonis P, Lai C, Lichtarge O, Martelli PL, Mishne G, Moles-Fernández A, Montalban G, Mooney SD, O'Conner R, Ootes L, Özkan S, Padilla N, Pagel KA, Pejaver V, et al.

Hum Mutat. 2019 Sep;40(9):1546-1556. doi: 10.1002/humu.23861. Epub 2019 Aug 23.

PubMed [citation]
PMID:
31294896
PMCID:
PMC6744348

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

Parsons MT, Tudini E, Li H, Hahnen E, Wappenschmidt B, Feliubadaló L, Aalfs CM, Agata S, Aittomäki K, Alducci E, Alonso-Cerezo MC, Arnold N, Auber B, Austin R, Azzollini J, Balmaña J, Barbieri E, Bartram CR, Blanco A, Blümcke B, Bonache S, Bonanni B, et al.

Hum Mutat. 2019 Sep;40(9):1557-1578. doi: 10.1002/humu.23818.

PubMed [citation]
PMID:
31131967
PMCID:
PMC6772163
See all PubMed Citations (14)

Details of each submission

From GeneDx, SCV000565959.8

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Also known as 2179A>C; This variant is associated with the following publications: (PMID: 16518693, 17719744, 20668451, 20167696, 25859162, 35205643, 31294896, 15385441, 31112341, 31911673, 23704879, 15343273, 31131967)

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

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV002046409.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (13)

Description

In the published literature, this variant has been reported in an individual affected with breast cancer, as well as in an unaffected control individual, in a large-scale association study (PMID: 33471991 (2021), see also LOVD (http://databases.lovd.nl/shared/)) and in an individual affected with pancreatic cancer (PMID: 35205643 (2022)). In addition, it was described as a likely benign variant in a multifactorial study (PMID: 31131967 (2019), see also LOVD (http://hci-exlovd.hci.utah.edu/)). The frequency of this variant in the general population, 0.000023 (3/129072 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded conflicting predictions that this variant is benign or damaging. Based on the available information, we are unable to determine the clinical significance of this variant.

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

From Mayo Clinic Laboratories, Mayo Clinic, SCV004224364.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

BP1, PM2

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 10, 2024