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NM_007294.4(BRCA1):c.1911T>C (p.Thr637=) AND not provided

Germline classification:
Likely benign (2 submissions)
Last evaluated:
Sep 10, 2019
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:
RCV000679685.20

Allele description [Variation Report for NM_007294.4(BRCA1):c.1911T>C (p.Thr637=)]

NM_007294.4(BRCA1):c.1911T>C (p.Thr637=)

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.1911T>C (p.Thr637=)
Other names:
T637T; p.T637T:ACT>ACC
HGVS:
  • NC_000017.11:g.43093620A>G
  • NG_005905.2:g.124364T>C
  • NM_001407571.1:c.1698T>C
  • NM_001407581.1:c.1911T>C
  • NM_001407582.1:c.1911T>C
  • NM_001407583.1:c.1911T>C
  • NM_001407585.1:c.1911T>C
  • NM_001407587.1:c.1908T>C
  • NM_001407590.1:c.1908T>C
  • NM_001407591.1:c.1908T>C
  • NM_001407593.1:c.1911T>C
  • NM_001407594.1:c.1911T>C
  • NM_001407596.1:c.1911T>C
  • NM_001407597.1:c.1911T>C
  • NM_001407598.1:c.1911T>C
  • NM_001407602.1:c.1911T>C
  • NM_001407603.1:c.1911T>C
  • NM_001407605.1:c.1911T>C
  • NM_001407610.1:c.1908T>C
  • NM_001407611.1:c.1908T>C
  • NM_001407612.1:c.1908T>C
  • NM_001407613.1:c.1908T>C
  • NM_001407614.1:c.1908T>C
  • NM_001407615.1:c.1908T>C
  • NM_001407616.1:c.1911T>C
  • NM_001407617.1:c.1911T>C
  • NM_001407618.1:c.1911T>C
  • NM_001407619.1:c.1911T>C
  • NM_001407620.1:c.1911T>C
  • NM_001407621.1:c.1911T>C
  • NM_001407622.1:c.1911T>C
  • NM_001407623.1:c.1911T>C
  • NM_001407624.1:c.1911T>C
  • NM_001407625.1:c.1911T>C
  • NM_001407626.1:c.1911T>C
  • NM_001407627.1:c.1908T>C
  • NM_001407628.1:c.1908T>C
  • NM_001407629.1:c.1908T>C
  • NM_001407630.1:c.1908T>C
  • NM_001407631.1:c.1908T>C
  • NM_001407632.1:c.1908T>C
  • NM_001407633.1:c.1908T>C
  • NM_001407634.1:c.1908T>C
  • NM_001407635.1:c.1908T>C
  • NM_001407636.1:c.1908T>C
  • NM_001407637.1:c.1908T>C
  • NM_001407638.1:c.1908T>C
  • NM_001407639.1:c.1911T>C
  • NM_001407640.1:c.1911T>C
  • NM_001407641.1:c.1911T>C
  • NM_001407642.1:c.1911T>C
  • NM_001407644.1:c.1908T>C
  • NM_001407645.1:c.1908T>C
  • NM_001407646.1:c.1902T>C
  • NM_001407647.1:c.1902T>C
  • NM_001407648.1:c.1788T>C
  • NM_001407649.1:c.1785T>C
  • NM_001407652.1:c.1911T>C
  • NM_001407653.1:c.1833T>C
  • NM_001407654.1:c.1833T>C
  • NM_001407655.1:c.1833T>C
  • NM_001407656.1:c.1833T>C
  • NM_001407657.1:c.1833T>C
  • NM_001407658.1:c.1833T>C
  • NM_001407659.1:c.1830T>C
  • NM_001407660.1:c.1830T>C
  • NM_001407661.1:c.1830T>C
  • NM_001407662.1:c.1830T>C
  • NM_001407663.1:c.1833T>C
  • NM_001407664.1:c.1788T>C
  • NM_001407665.1:c.1788T>C
  • NM_001407666.1:c.1788T>C
  • NM_001407667.1:c.1788T>C
  • NM_001407668.1:c.1788T>C
  • NM_001407669.1:c.1788T>C
  • NM_001407670.1:c.1785T>C
  • NM_001407671.1:c.1785T>C
  • NM_001407672.1:c.1785T>C
  • NM_001407673.1:c.1785T>C
  • NM_001407674.1:c.1788T>C
  • NM_001407675.1:c.1788T>C
  • NM_001407676.1:c.1788T>C
  • NM_001407677.1:c.1788T>C
  • NM_001407678.1:c.1788T>C
  • NM_001407679.1:c.1788T>C
  • NM_001407680.1:c.1788T>C
  • NM_001407681.1:c.1788T>C
  • NM_001407682.1:c.1788T>C
  • NM_001407683.1:c.1788T>C
  • NM_001407684.1:c.1911T>C
  • NM_001407685.1:c.1785T>C
  • NM_001407686.1:c.1785T>C
  • NM_001407687.1:c.1785T>C
  • NM_001407688.1:c.1785T>C
  • NM_001407689.1:c.1785T>C
  • NM_001407690.1:c.1785T>C
  • NM_001407691.1:c.1785T>C
  • NM_001407692.1:c.1770T>C
  • NM_001407694.1:c.1770T>C
  • NM_001407695.1:c.1770T>C
  • NM_001407696.1:c.1770T>C
  • NM_001407697.1:c.1770T>C
  • NM_001407698.1:c.1770T>C
  • NM_001407724.1:c.1770T>C
  • NM_001407725.1:c.1770T>C
  • NM_001407726.1:c.1770T>C
  • NM_001407727.1:c.1770T>C
  • NM_001407728.1:c.1770T>C
  • NM_001407729.1:c.1770T>C
  • NM_001407730.1:c.1770T>C
  • NM_001407731.1:c.1770T>C
  • NM_001407732.1:c.1770T>C
  • NM_001407733.1:c.1770T>C
  • NM_001407734.1:c.1770T>C
  • NM_001407735.1:c.1770T>C
  • NM_001407736.1:c.1770T>C
  • NM_001407737.1:c.1770T>C
  • NM_001407738.1:c.1770T>C
  • NM_001407739.1:c.1770T>C
  • NM_001407740.1:c.1767T>C
  • NM_001407741.1:c.1767T>C
  • NM_001407742.1:c.1767T>C
  • NM_001407743.1:c.1767T>C
  • NM_001407744.1:c.1767T>C
  • NM_001407745.1:c.1767T>C
  • NM_001407746.1:c.1767T>C
  • NM_001407747.1:c.1767T>C
  • NM_001407748.1:c.1767T>C
  • NM_001407749.1:c.1767T>C
  • NM_001407750.1:c.1770T>C
  • NM_001407751.1:c.1770T>C
  • NM_001407752.1:c.1770T>C
  • NM_001407838.1:c.1767T>C
  • NM_001407839.1:c.1767T>C
  • NM_001407841.1:c.1767T>C
  • NM_001407842.1:c.1767T>C
  • NM_001407843.1:c.1767T>C
  • NM_001407844.1:c.1767T>C
  • NM_001407845.1:c.1767T>C
  • NM_001407846.1:c.1767T>C
  • NM_001407847.1:c.1767T>C
  • NM_001407848.1:c.1767T>C
  • NM_001407849.1:c.1767T>C
  • NM_001407850.1:c.1770T>C
  • NM_001407851.1:c.1770T>C
  • NM_001407852.1:c.1770T>C
  • NM_001407853.1:c.1698T>C
  • NM_001407854.1:c.1911T>C
  • NM_001407858.1:c.1911T>C
  • NM_001407859.1:c.1911T>C
  • NM_001407860.1:c.1908T>C
  • NM_001407861.1:c.1908T>C
  • NM_001407862.1:c.1710T>C
  • NM_001407863.1:c.1788T>C
  • NM_001407874.1:c.1707T>C
  • NM_001407875.1:c.1707T>C
  • NM_001407879.1:c.1701T>C
  • NM_001407881.1:c.1701T>C
  • NM_001407882.1:c.1701T>C
  • NM_001407884.1:c.1701T>C
  • NM_001407885.1:c.1701T>C
  • NM_001407886.1:c.1701T>C
  • NM_001407887.1:c.1701T>C
  • NM_001407889.1:c.1701T>C
  • NM_001407894.1:c.1698T>C
  • NM_001407895.1:c.1698T>C
  • NM_001407896.1:c.1698T>C
  • NM_001407897.1:c.1698T>C
  • NM_001407898.1:c.1698T>C
  • NM_001407899.1:c.1698T>C
  • NM_001407900.1:c.1701T>C
  • NM_001407902.1:c.1701T>C
  • NM_001407904.1:c.1701T>C
  • NM_001407906.1:c.1701T>C
  • NM_001407907.1:c.1701T>C
  • NM_001407908.1:c.1701T>C
  • NM_001407909.1:c.1701T>C
  • NM_001407910.1:c.1701T>C
  • NM_001407915.1:c.1698T>C
  • NM_001407916.1:c.1698T>C
  • NM_001407917.1:c.1698T>C
  • NM_001407918.1:c.1698T>C
  • NM_001407919.1:c.1788T>C
  • NM_001407920.1:c.1647T>C
  • NM_001407921.1:c.1647T>C
  • NM_001407922.1:c.1647T>C
  • NM_001407923.1:c.1647T>C
  • NM_001407924.1:c.1647T>C
  • NM_001407925.1:c.1647T>C
  • NM_001407926.1:c.1647T>C
  • NM_001407927.1:c.1647T>C
  • NM_001407928.1:c.1647T>C
  • NM_001407929.1:c.1647T>C
  • NM_001407930.1:c.1644T>C
  • NM_001407931.1:c.1644T>C
  • NM_001407932.1:c.1644T>C
  • NM_001407933.1:c.1647T>C
  • NM_001407934.1:c.1644T>C
  • NM_001407935.1:c.1647T>C
  • NM_001407936.1:c.1644T>C
  • NM_001407937.1:c.1788T>C
  • NM_001407938.1:c.1788T>C
  • NM_001407939.1:c.1788T>C
  • NM_001407940.1:c.1785T>C
  • NM_001407941.1:c.1785T>C
  • NM_001407942.1:c.1770T>C
  • NM_001407943.1:c.1767T>C
  • NM_001407944.1:c.1770T>C
  • NM_001407945.1:c.1770T>C
  • NM_001407946.1:c.1578T>C
  • NM_001407947.1:c.1578T>C
  • NM_001407948.1:c.1578T>C
  • NM_001407949.1:c.1578T>C
  • NM_001407950.1:c.1578T>C
  • NM_001407951.1:c.1578T>C
  • NM_001407952.1:c.1578T>C
  • NM_001407953.1:c.1578T>C
  • NM_001407954.1:c.1575T>C
  • NM_001407955.1:c.1575T>C
  • NM_001407956.1:c.1575T>C
  • NM_001407957.1:c.1578T>C
  • NM_001407958.1:c.1575T>C
  • NM_001407959.1:c.1530T>C
  • NM_001407960.1:c.1530T>C
  • NM_001407962.1:c.1527T>C
  • NM_001407963.1:c.1530T>C
  • NM_001407964.1:c.1767T>C
  • NM_001407965.1:c.1407T>C
  • NM_001407966.1:c.1023T>C
  • NM_001407967.1:c.1023T>C
  • NM_001407968.1:c.787+1124T>C
  • NM_001407969.1:c.787+1124T>C
  • NM_001407970.1:c.787+1124T>C
  • NM_001407971.1:c.787+1124T>C
  • NM_001407972.1:c.784+1124T>C
  • NM_001407973.1:c.787+1124T>C
  • NM_001407974.1:c.787+1124T>C
  • NM_001407975.1:c.787+1124T>C
  • NM_001407976.1:c.787+1124T>C
  • NM_001407977.1:c.787+1124T>C
  • NM_001407978.1:c.787+1124T>C
  • NM_001407979.1:c.787+1124T>C
  • NM_001407980.1:c.787+1124T>C
  • NM_001407981.1:c.787+1124T>C
  • NM_001407982.1:c.787+1124T>C
  • NM_001407983.1:c.787+1124T>C
  • NM_001407984.1:c.784+1124T>C
  • NM_001407985.1:c.784+1124T>C
  • NM_001407986.1:c.784+1124T>C
  • NM_001407990.1:c.787+1124T>C
  • NM_001407991.1:c.784+1124T>C
  • NM_001407992.1:c.784+1124T>C
  • NM_001407993.1:c.787+1124T>C
  • NM_001408392.1:c.784+1124T>C
  • NM_001408396.1:c.784+1124T>C
  • NM_001408397.1:c.784+1124T>C
  • NM_001408398.1:c.784+1124T>C
  • NM_001408399.1:c.784+1124T>C
  • NM_001408400.1:c.784+1124T>C
  • NM_001408401.1:c.784+1124T>C
  • NM_001408402.1:c.784+1124T>C
  • NM_001408403.1:c.787+1124T>C
  • NM_001408404.1:c.787+1124T>C
  • NM_001408406.1:c.790+1121T>C
  • NM_001408407.1:c.784+1124T>C
  • NM_001408408.1:c.778+1124T>C
  • NM_001408409.1:c.709+1124T>C
  • NM_001408410.1:c.646+1124T>C
  • NM_001408411.1:c.709+1124T>C
  • NM_001408412.1:c.709+1124T>C
  • NM_001408413.1:c.706+1124T>C
  • NM_001408414.1:c.709+1124T>C
  • NM_001408415.1:c.709+1124T>C
  • NM_001408416.1:c.706+1124T>C
  • NM_001408418.1:c.670+2226T>C
  • NM_001408419.1:c.670+2226T>C
  • NM_001408420.1:c.670+2226T>C
  • NM_001408421.1:c.667+2226T>C
  • NM_001408422.1:c.670+2226T>C
  • NM_001408423.1:c.670+2226T>C
  • NM_001408424.1:c.667+2226T>C
  • NM_001408425.1:c.664+1124T>C
  • NM_001408426.1:c.664+1124T>C
  • NM_001408427.1:c.664+1124T>C
  • NM_001408428.1:c.664+1124T>C
  • NM_001408429.1:c.664+1124T>C
  • NM_001408430.1:c.664+1124T>C
  • NM_001408431.1:c.667+2226T>C
  • NM_001408432.1:c.661+1124T>C
  • NM_001408433.1:c.661+1124T>C
  • NM_001408434.1:c.661+1124T>C
  • NM_001408435.1:c.661+1124T>C
  • NM_001408436.1:c.664+1124T>C
  • NM_001408437.1:c.664+1124T>C
  • NM_001408438.1:c.664+1124T>C
  • NM_001408439.1:c.664+1124T>C
  • NM_001408440.1:c.664+1124T>C
  • NM_001408441.1:c.664+1124T>C
  • NM_001408442.1:c.664+1124T>C
  • NM_001408443.1:c.664+1124T>C
  • NM_001408444.1:c.664+1124T>C
  • NM_001408445.1:c.661+1124T>C
  • NM_001408446.1:c.661+1124T>C
  • NM_001408447.1:c.661+1124T>C
  • NM_001408448.1:c.661+1124T>C
  • NM_001408450.1:c.661+1124T>C
  • NM_001408451.1:c.652+1124T>C
  • NM_001408452.1:c.646+1124T>C
  • NM_001408453.1:c.646+1124T>C
  • NM_001408454.1:c.646+1124T>C
  • NM_001408455.1:c.646+1124T>C
  • NM_001408456.1:c.646+1124T>C
  • NM_001408457.1:c.646+1124T>C
  • NM_001408458.1:c.646+1124T>C
  • NM_001408459.1:c.646+1124T>C
  • NM_001408460.1:c.646+1124T>C
  • NM_001408461.1:c.646+1124T>C
  • NM_001408462.1:c.643+1124T>C
  • NM_001408463.1:c.643+1124T>C
  • NM_001408464.1:c.643+1124T>C
  • NM_001408465.1:c.643+1124T>C
  • NM_001408466.1:c.646+1124T>C
  • NM_001408467.1:c.646+1124T>C
  • NM_001408468.1:c.643+1124T>C
  • NM_001408469.1:c.646+1124T>C
  • NM_001408470.1:c.643+1124T>C
  • NM_001408472.1:c.787+1124T>C
  • NM_001408473.1:c.784+1124T>C
  • NM_001408474.1:c.586+1124T>C
  • NM_001408475.1:c.583+1124T>C
  • NM_001408476.1:c.586+1124T>C
  • NM_001408478.1:c.577+1124T>C
  • NM_001408479.1:c.577+1124T>C
  • NM_001408480.1:c.577+1124T>C
  • NM_001408481.1:c.577+1124T>C
  • NM_001408482.1:c.577+1124T>C
  • NM_001408483.1:c.577+1124T>C
  • NM_001408484.1:c.577+1124T>C
  • NM_001408485.1:c.577+1124T>C
  • NM_001408489.1:c.577+1124T>C
  • NM_001408490.1:c.574+1124T>C
  • NM_001408491.1:c.574+1124T>C
  • NM_001408492.1:c.577+1124T>C
  • NM_001408493.1:c.574+1124T>C
  • NM_001408494.1:c.548-2588T>C
  • NM_001408495.1:c.545-2588T>C
  • NM_001408496.1:c.523+1124T>C
  • NM_001408497.1:c.523+1124T>C
  • NM_001408498.1:c.523+1124T>C
  • NM_001408499.1:c.523+1124T>C
  • NM_001408500.1:c.523+1124T>C
  • NM_001408501.1:c.523+1124T>C
  • NM_001408502.1:c.454+1124T>C
  • NM_001408503.1:c.520+1124T>C
  • NM_001408504.1:c.520+1124T>C
  • NM_001408505.1:c.520+1124T>C
  • NM_001408506.1:c.460+2226T>C
  • NM_001408507.1:c.460+2226T>C
  • NM_001408508.1:c.451+1124T>C
  • NM_001408509.1:c.451+1124T>C
  • NM_001408510.1:c.406+1124T>C
  • NM_001408511.1:c.404-2588T>C
  • NM_001408512.1:c.283+1124T>C
  • NM_001408513.1:c.577+1124T>C
  • NM_001408514.1:c.577+1124T>C
  • NM_007294.4:c.1911T>CMANE SELECT
  • NM_007297.4:c.1770T>C
  • NM_007298.4:c.787+1124T>C
  • NM_007299.4:c.787+1124T>C
  • NM_007300.4:c.1911T>C
  • NP_001394500.1:p.Thr566=
  • NP_001394510.1:p.Thr637=
  • NP_001394511.1:p.Thr637=
  • NP_001394512.1:p.Thr637=
  • NP_001394514.1:p.Thr637=
  • NP_001394516.1:p.Thr636=
  • NP_001394519.1:p.Thr636=
  • NP_001394520.1:p.Thr636=
  • NP_001394522.1:p.Thr637=
  • NP_001394523.1:p.Thr637=
  • NP_001394525.1:p.Thr637=
  • NP_001394526.1:p.Thr637=
  • NP_001394527.1:p.Thr637=
  • NP_001394531.1:p.Thr637=
  • NP_001394532.1:p.Thr637=
  • NP_001394534.1:p.Thr637=
  • NP_001394539.1:p.Thr636=
  • NP_001394540.1:p.Thr636=
  • NP_001394541.1:p.Thr636=
  • NP_001394542.1:p.Thr636=
  • NP_001394543.1:p.Thr636=
  • NP_001394544.1:p.Thr636=
  • NP_001394545.1:p.Thr637=
  • NP_001394546.1:p.Thr637=
  • NP_001394547.1:p.Thr637=
  • NP_001394548.1:p.Thr637=
  • NP_001394549.1:p.Thr637=
  • NP_001394550.1:p.Thr637=
  • NP_001394551.1:p.Thr637=
  • NP_001394552.1:p.Thr637=
  • NP_001394553.1:p.Thr637=
  • NP_001394554.1:p.Thr637=
  • NP_001394555.1:p.Thr637=
  • NP_001394556.1:p.Thr636=
  • NP_001394557.1:p.Thr636=
  • NP_001394558.1:p.Thr636=
  • NP_001394559.1:p.Thr636=
  • NP_001394560.1:p.Thr636=
  • NP_001394561.1:p.Thr636=
  • NP_001394562.1:p.Thr636=
  • NP_001394563.1:p.Thr636=
  • NP_001394564.1:p.Thr636=
  • NP_001394565.1:p.Thr636=
  • NP_001394566.1:p.Thr636=
  • NP_001394567.1:p.Thr636=
  • NP_001394568.1:p.Thr637=
  • NP_001394569.1:p.Thr637=
  • NP_001394570.1:p.Thr637=
  • NP_001394571.1:p.Thr637=
  • NP_001394573.1:p.Thr636=
  • NP_001394574.1:p.Thr636=
  • NP_001394575.1:p.Thr634=
  • NP_001394576.1:p.Thr634=
  • NP_001394577.1:p.Thr596=
  • NP_001394578.1:p.Thr595=
  • NP_001394581.1:p.Thr637=
  • NP_001394582.1:p.Thr611=
  • NP_001394583.1:p.Thr611=
  • NP_001394584.1:p.Thr611=
  • NP_001394585.1:p.Thr611=
  • NP_001394586.1:p.Thr611=
  • NP_001394587.1:p.Thr611=
  • NP_001394588.1:p.Thr610=
  • NP_001394589.1:p.Thr610=
  • NP_001394590.1:p.Thr610=
  • NP_001394591.1:p.Thr610=
  • NP_001394592.1:p.Thr611=
  • NP_001394593.1:p.Thr596=
  • NP_001394594.1:p.Thr596=
  • NP_001394595.1:p.Thr596=
  • NP_001394596.1:p.Thr596=
  • NP_001394597.1:p.Thr596=
  • NP_001394598.1:p.Thr596=
  • NP_001394599.1:p.Thr595=
  • NP_001394600.1:p.Thr595=
  • NP_001394601.1:p.Thr595=
  • NP_001394602.1:p.Thr595=
  • NP_001394603.1:p.Thr596=
  • NP_001394604.1:p.Thr596=
  • NP_001394605.1:p.Thr596=
  • NP_001394606.1:p.Thr596=
  • NP_001394607.1:p.Thr596=
  • NP_001394608.1:p.Thr596=
  • NP_001394609.1:p.Thr596=
  • NP_001394610.1:p.Thr596=
  • NP_001394611.1:p.Thr596=
  • NP_001394612.1:p.Thr596=
  • NP_001394613.1:p.Thr637=
  • NP_001394614.1:p.Thr595=
  • NP_001394615.1:p.Thr595=
  • NP_001394616.1:p.Thr595=
  • NP_001394617.1:p.Thr595=
  • NP_001394618.1:p.Thr595=
  • NP_001394619.1:p.Thr595=
  • NP_001394620.1:p.Thr595=
  • NP_001394621.1:p.Thr590=
  • NP_001394623.1:p.Thr590=
  • NP_001394624.1:p.Thr590=
  • NP_001394625.1:p.Thr590=
  • NP_001394626.1:p.Thr590=
  • NP_001394627.1:p.Thr590=
  • NP_001394653.1:p.Thr590=
  • NP_001394654.1:p.Thr590=
  • NP_001394655.1:p.Thr590=
  • NP_001394656.1:p.Thr590=
  • NP_001394657.1:p.Thr590=
  • NP_001394658.1:p.Thr590=
  • NP_001394659.1:p.Thr590=
  • NP_001394660.1:p.Thr590=
  • NP_001394661.1:p.Thr590=
  • NP_001394662.1:p.Thr590=
  • NP_001394663.1:p.Thr590=
  • NP_001394664.1:p.Thr590=
  • NP_001394665.1:p.Thr590=
  • NP_001394666.1:p.Thr590=
  • NP_001394667.1:p.Thr590=
  • NP_001394668.1:p.Thr590=
  • NP_001394669.1:p.Thr589=
  • NP_001394670.1:p.Thr589=
  • NP_001394671.1:p.Thr589=
  • NP_001394672.1:p.Thr589=
  • NP_001394673.1:p.Thr589=
  • NP_001394674.1:p.Thr589=
  • NP_001394675.1:p.Thr589=
  • NP_001394676.1:p.Thr589=
  • NP_001394677.1:p.Thr589=
  • NP_001394678.1:p.Thr589=
  • NP_001394679.1:p.Thr590=
  • NP_001394680.1:p.Thr590=
  • NP_001394681.1:p.Thr590=
  • NP_001394767.1:p.Thr589=
  • NP_001394768.1:p.Thr589=
  • NP_001394770.1:p.Thr589=
  • NP_001394771.1:p.Thr589=
  • NP_001394772.1:p.Thr589=
  • NP_001394773.1:p.Thr589=
  • NP_001394774.1:p.Thr589=
  • NP_001394775.1:p.Thr589=
  • NP_001394776.1:p.Thr589=
  • NP_001394777.1:p.Thr589=
  • NP_001394778.1:p.Thr589=
  • NP_001394779.1:p.Thr590=
  • NP_001394780.1:p.Thr590=
  • NP_001394781.1:p.Thr590=
  • NP_001394782.1:p.Thr566=
  • NP_001394783.1:p.Thr637=
  • NP_001394787.1:p.Thr637=
  • NP_001394788.1:p.Thr637=
  • NP_001394789.1:p.Thr636=
  • NP_001394790.1:p.Thr636=
  • NP_001394791.1:p.Thr570=
  • NP_001394792.1:p.Thr596=
  • NP_001394803.1:p.Thr569=
  • NP_001394804.1:p.Thr569=
  • NP_001394808.1:p.Thr567=
  • NP_001394810.1:p.Thr567=
  • NP_001394811.1:p.Thr567=
  • NP_001394813.1:p.Thr567=
  • NP_001394814.1:p.Thr567=
  • NP_001394815.1:p.Thr567=
  • NP_001394816.1:p.Thr567=
  • NP_001394818.1:p.Thr567=
  • NP_001394823.1:p.Thr566=
  • NP_001394824.1:p.Thr566=
  • NP_001394825.1:p.Thr566=
  • NP_001394826.1:p.Thr566=
  • NP_001394827.1:p.Thr566=
  • NP_001394828.1:p.Thr566=
  • NP_001394829.1:p.Thr567=
  • NP_001394831.1:p.Thr567=
  • NP_001394833.1:p.Thr567=
  • NP_001394835.1:p.Thr567=
  • NP_001394836.1:p.Thr567=
  • NP_001394837.1:p.Thr567=
  • NP_001394838.1:p.Thr567=
  • NP_001394839.1:p.Thr567=
  • NP_001394844.1:p.Thr566=
  • NP_001394845.1:p.Thr566=
  • NP_001394846.1:p.Thr566=
  • NP_001394847.1:p.Thr566=
  • NP_001394848.1:p.Thr596=
  • NP_001394849.1:p.Thr549=
  • NP_001394850.1:p.Thr549=
  • NP_001394851.1:p.Thr549=
  • NP_001394852.1:p.Thr549=
  • NP_001394853.1:p.Thr549=
  • NP_001394854.1:p.Thr549=
  • NP_001394855.1:p.Thr549=
  • NP_001394856.1:p.Thr549=
  • NP_001394857.1:p.Thr549=
  • NP_001394858.1:p.Thr549=
  • NP_001394859.1:p.Thr548=
  • NP_001394860.1:p.Thr548=
  • NP_001394861.1:p.Thr548=
  • NP_001394862.1:p.Thr549=
  • NP_001394863.1:p.Thr548=
  • NP_001394864.1:p.Thr549=
  • NP_001394865.1:p.Thr548=
  • NP_001394866.1:p.Thr596=
  • NP_001394867.1:p.Thr596=
  • NP_001394868.1:p.Thr596=
  • NP_001394869.1:p.Thr595=
  • NP_001394870.1:p.Thr595=
  • NP_001394871.1:p.Thr590=
  • NP_001394872.1:p.Thr589=
  • NP_001394873.1:p.Thr590=
  • NP_001394874.1:p.Thr590=
  • NP_001394875.1:p.Thr526=
  • NP_001394876.1:p.Thr526=
  • NP_001394877.1:p.Thr526=
  • NP_001394878.1:p.Thr526=
  • NP_001394879.1:p.Thr526=
  • NP_001394880.1:p.Thr526=
  • NP_001394881.1:p.Thr526=
  • NP_001394882.1:p.Thr526=
  • NP_001394883.1:p.Thr525=
  • NP_001394884.1:p.Thr525=
  • NP_001394885.1:p.Thr525=
  • NP_001394886.1:p.Thr526=
  • NP_001394887.1:p.Thr525=
  • NP_001394888.1:p.Thr510=
  • NP_001394889.1:p.Thr510=
  • NP_001394891.1:p.Thr509=
  • NP_001394892.1:p.Thr510=
  • NP_001394893.1:p.Thr589=
  • NP_001394894.1:p.Thr469=
  • NP_001394895.1:p.Thr341=
  • NP_001394896.1:p.Thr341=
  • NP_009225.1:p.Thr637=
  • NP_009225.1:p.Thr637=
  • NP_009228.2:p.Thr590=
  • NP_009231.2:p.Thr637=
  • LRG_292t1:c.1911T>C
  • LRG_292:g.124364T>C
  • LRG_292p1:p.Thr637=
  • NC_000017.10:g.41245637A>G
  • NM_007294.3:c.1911T>C
  • NR_027676.2:n.2088T>C
  • U14680.1:n.2030T>C
  • p.T637T
  • p.Thr637Thr
Links:
dbSNP: rs62625305
NCBI 1000 Genomes Browser:
rs62625305
Molecular consequence:
  • NM_001407968.1:c.787+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.787+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.787+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.787+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.784+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.787+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.787+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.787+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.787+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.787+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.787+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.787+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.787+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.787+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.787+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.787+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.784+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.784+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.784+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.787+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.784+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.784+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.787+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.784+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.784+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.784+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.784+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.784+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.784+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.784+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.784+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.787+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.787+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.790+1121T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.784+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.778+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.709+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.646+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.709+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.709+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.706+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.709+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.709+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.706+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.670+2226T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.670+2226T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.670+2226T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.667+2226T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.670+2226T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.670+2226T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.667+2226T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.664+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.664+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.664+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.664+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.664+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.664+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.667+2226T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.661+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.661+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.661+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.661+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.664+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.664+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.664+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.664+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.664+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.664+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.664+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.664+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.664+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.661+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.661+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.661+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.661+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.661+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.652+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.646+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.646+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.646+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.646+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.646+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.646+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.646+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.646+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.646+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.646+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.643+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.643+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.643+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.643+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.646+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.646+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.643+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.646+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.643+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.787+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.784+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.586+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.583+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.586+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.577+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.577+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.577+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.577+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.577+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.577+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.577+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.577+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.577+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.574+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.574+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.577+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.574+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-2588T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-2588T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.523+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.523+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.523+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.523+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.523+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.523+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.454+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.520+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.520+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.520+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.460+2226T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.460+2226T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.451+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.451+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.406+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-2588T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.283+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.577+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.577+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.787+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.787+1124T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.1698T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407581.1:c.1911T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407582.1:c.1911T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407583.1:c.1911T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407585.1:c.1911T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407587.1:c.1908T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407590.1:c.1908T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407591.1:c.1908T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407593.1:c.1911T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407594.1:c.1911T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407596.1:c.1911T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407597.1:c.1911T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407598.1:c.1911T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407602.1:c.1911T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407603.1:c.1911T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407605.1:c.1911T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407610.1:c.1908T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407611.1:c.1908T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407612.1:c.1908T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407613.1:c.1908T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407614.1:c.1908T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407615.1:c.1908T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407616.1:c.1911T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407617.1:c.1911T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407618.1:c.1911T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407619.1:c.1911T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407620.1:c.1911T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407621.1:c.1911T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407622.1:c.1911T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407623.1:c.1911T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407624.1:c.1911T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407625.1:c.1911T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407626.1:c.1911T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407627.1:c.1908T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407628.1:c.1908T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407629.1:c.1908T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407630.1:c.1908T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407631.1:c.1908T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407632.1:c.1908T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407633.1:c.1908T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407634.1:c.1908T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407635.1:c.1908T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407636.1:c.1908T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407637.1:c.1908T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407638.1:c.1908T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407639.1:c.1911T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407640.1:c.1911T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407641.1:c.1911T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407642.1:c.1911T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407644.1:c.1908T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407645.1:c.1908T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407646.1:c.1902T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407647.1:c.1902T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407648.1:c.1788T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407649.1:c.1785T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407652.1:c.1911T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407653.1:c.1833T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407654.1:c.1833T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407655.1:c.1833T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407656.1:c.1833T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407657.1:c.1833T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407658.1:c.1833T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407659.1:c.1830T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407660.1:c.1830T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407661.1:c.1830T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407662.1:c.1830T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407663.1:c.1833T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407664.1:c.1788T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407665.1:c.1788T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407666.1:c.1788T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407667.1:c.1788T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407668.1:c.1788T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407669.1:c.1788T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407670.1:c.1785T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407671.1:c.1785T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407672.1:c.1785T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407673.1:c.1785T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407674.1:c.1788T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407675.1:c.1788T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407676.1:c.1788T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407677.1:c.1788T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407678.1:c.1788T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407679.1:c.1788T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407680.1:c.1788T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407681.1:c.1788T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407682.1:c.1788T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407683.1:c.1788T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407684.1:c.1911T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407685.1:c.1785T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407686.1:c.1785T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407687.1:c.1785T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407688.1:c.1785T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407689.1:c.1785T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407690.1:c.1785T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407691.1:c.1785T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407692.1:c.1770T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407694.1:c.1770T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407695.1:c.1770T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407696.1:c.1770T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407697.1:c.1770T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407698.1:c.1770T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407724.1:c.1770T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407725.1:c.1770T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407726.1:c.1770T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407727.1:c.1770T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407728.1:c.1770T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407729.1:c.1770T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407730.1:c.1770T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407731.1:c.1770T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407732.1:c.1770T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407733.1:c.1770T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407734.1:c.1770T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407735.1:c.1770T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407736.1:c.1770T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407737.1:c.1770T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407738.1:c.1770T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407739.1:c.1770T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407740.1:c.1767T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407741.1:c.1767T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407742.1:c.1767T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407743.1:c.1767T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407744.1:c.1767T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407745.1:c.1767T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407746.1:c.1767T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407747.1:c.1767T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407748.1:c.1767T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407749.1:c.1767T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407750.1:c.1770T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407751.1:c.1770T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407752.1:c.1770T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407838.1:c.1767T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407839.1:c.1767T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407841.1:c.1767T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407842.1:c.1767T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407843.1:c.1767T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407844.1:c.1767T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407845.1:c.1767T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407846.1:c.1767T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407847.1:c.1767T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407848.1:c.1767T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407849.1:c.1767T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407850.1:c.1770T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407851.1:c.1770T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407852.1:c.1770T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407853.1:c.1698T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407854.1:c.1911T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407858.1:c.1911T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407859.1:c.1911T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407860.1:c.1908T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407861.1:c.1908T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407862.1:c.1710T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407863.1:c.1788T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407874.1:c.1707T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407875.1:c.1707T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407879.1:c.1701T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407881.1:c.1701T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407882.1:c.1701T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407884.1:c.1701T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407885.1:c.1701T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407886.1:c.1701T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407887.1:c.1701T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407889.1:c.1701T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407894.1:c.1698T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407895.1:c.1698T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407896.1:c.1698T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407897.1:c.1698T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407898.1:c.1698T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407899.1:c.1698T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407900.1:c.1701T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407902.1:c.1701T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407904.1:c.1701T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407906.1:c.1701T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407907.1:c.1701T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407908.1:c.1701T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407909.1:c.1701T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407910.1:c.1701T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407915.1:c.1698T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407916.1:c.1698T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407917.1:c.1698T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407918.1:c.1698T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407919.1:c.1788T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407920.1:c.1647T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407921.1:c.1647T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407922.1:c.1647T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407923.1:c.1647T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407924.1:c.1647T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407925.1:c.1647T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407926.1:c.1647T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407927.1:c.1647T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407928.1:c.1647T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407929.1:c.1647T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407930.1:c.1644T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407931.1:c.1644T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407932.1:c.1644T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407933.1:c.1647T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407934.1:c.1644T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407935.1:c.1647T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407936.1:c.1644T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407937.1:c.1788T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407938.1:c.1788T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407939.1:c.1788T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407940.1:c.1785T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407941.1:c.1785T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407942.1:c.1770T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407943.1:c.1767T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407944.1:c.1770T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407945.1:c.1770T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407946.1:c.1578T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407947.1:c.1578T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407948.1:c.1578T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407949.1:c.1578T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407950.1:c.1578T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407951.1:c.1578T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407952.1:c.1578T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407953.1:c.1578T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407954.1:c.1575T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407955.1:c.1575T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407956.1:c.1575T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407957.1:c.1578T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407958.1:c.1575T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407959.1:c.1530T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407960.1:c.1530T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407962.1:c.1527T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407963.1:c.1530T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407964.1:c.1767T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407965.1:c.1407T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407966.1:c.1023T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407967.1:c.1023T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_007294.4:c.1911T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_007297.4:c.1770T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_007300.4:c.1911T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000806903PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely benign
(Jun 2, 2017) 		germlineclinical testing

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

SCV001473917ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)		Likely benign
(Sep 10, 2019) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV000806903.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001473917.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 20, 2024