NM_007294.4(BRCA1):c.5023A>T (p.Thr1675Ser) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
May 4, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001076255.5

Allele description [Variation Report for NM_007294.4(BRCA1):c.5023A>T (p.Thr1675Ser)]

NM_007294.4(BRCA1):c.5023A>T (p.Thr1675Ser)

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.5023A>T (p.Thr1675Ser)
HGVS:
  • NC_000017.11:g.43067659T>A
  • NG_005905.2:g.150325A>T
  • NM_001407571.1:c.4810A>T
  • NM_001407581.1:c.5089A>T
  • NM_001407582.1:c.5089A>T
  • NM_001407583.1:c.5086A>T
  • NM_001407585.1:c.5086A>T
  • NM_001407587.1:c.5086A>T
  • NM_001407590.1:c.5083A>T
  • NM_001407591.1:c.5083A>T
  • NM_001407593.1:c.5023A>T
  • NM_001407594.1:c.5023A>T
  • NM_001407596.1:c.5023A>T
  • NM_001407597.1:c.5023A>T
  • NM_001407598.1:c.5023A>T
  • NM_001407602.1:c.5023A>T
  • NM_001407603.1:c.5023A>T
  • NM_001407605.1:c.5023A>T
  • NM_001407610.1:c.5020A>T
  • NM_001407611.1:c.5020A>T
  • NM_001407612.1:c.5020A>T
  • NM_001407613.1:c.5020A>T
  • NM_001407614.1:c.5020A>T
  • NM_001407615.1:c.5020A>T
  • NM_001407616.1:c.5020A>T
  • NM_001407617.1:c.5020A>T
  • NM_001407618.1:c.5020A>T
  • NM_001407619.1:c.5020A>T
  • NM_001407620.1:c.5020A>T
  • NM_001407621.1:c.5020A>T
  • NM_001407622.1:c.5020A>T
  • NM_001407623.1:c.5020A>T
  • NM_001407624.1:c.5020A>T
  • NM_001407625.1:c.5020A>T
  • NM_001407626.1:c.5020A>T
  • NM_001407627.1:c.5017A>T
  • NM_001407628.1:c.5017A>T
  • NM_001407629.1:c.5017A>T
  • NM_001407630.1:c.5017A>T
  • NM_001407631.1:c.5017A>T
  • NM_001407632.1:c.5017A>T
  • NM_001407633.1:c.5017A>T
  • NM_001407634.1:c.5017A>T
  • NM_001407635.1:c.5017A>T
  • NM_001407636.1:c.5017A>T
  • NM_001407637.1:c.5017A>T
  • NM_001407638.1:c.5017A>T
  • NM_001407639.1:c.5017A>T
  • NM_001407640.1:c.5017A>T
  • NM_001407641.1:c.5017A>T
  • NM_001407642.1:c.5017A>T
  • NM_001407644.1:c.5014A>T
  • NM_001407645.1:c.5014A>T
  • NM_001407646.1:c.5011A>T
  • NM_001407647.1:c.5008A>T
  • NM_001407648.1:c.4966A>T
  • NM_001407649.1:c.4963A>T
  • NM_001407652.1:c.5023A>T
  • NM_001407653.1:c.4945A>T
  • NM_001407654.1:c.4945A>T
  • NM_001407655.1:c.4945A>T
  • NM_001407656.1:c.4942A>T
  • NM_001407657.1:c.4942A>T
  • NM_001407658.1:c.4942A>T
  • NM_001407659.1:c.4939A>T
  • NM_001407660.1:c.4939A>T
  • NM_001407661.1:c.4939A>T
  • NM_001407662.1:c.4939A>T
  • NM_001407663.1:c.4939A>T
  • NM_001407664.1:c.4900A>T
  • NM_001407665.1:c.4900A>T
  • NM_001407666.1:c.4900A>T
  • NM_001407667.1:c.4900A>T
  • NM_001407668.1:c.4900A>T
  • NM_001407669.1:c.4900A>T
  • NM_001407670.1:c.4897A>T
  • NM_001407671.1:c.4897A>T
  • NM_001407672.1:c.4897A>T
  • NM_001407673.1:c.4897A>T
  • NM_001407674.1:c.4897A>T
  • NM_001407675.1:c.4897A>T
  • NM_001407676.1:c.4897A>T
  • NM_001407677.1:c.4897A>T
  • NM_001407678.1:c.4897A>T
  • NM_001407679.1:c.4897A>T
  • NM_001407680.1:c.4897A>T
  • NM_001407681.1:c.4894A>T
  • NM_001407682.1:c.4894A>T
  • NM_001407683.1:c.4894A>T
  • NM_001407684.1:c.5023A>T
  • NM_001407685.1:c.4894A>T
  • NM_001407686.1:c.4894A>T
  • NM_001407687.1:c.4894A>T
  • NM_001407688.1:c.4894A>T
  • NM_001407689.1:c.4894A>T
  • NM_001407690.1:c.4891A>T
  • NM_001407691.1:c.4891A>T
  • NM_001407692.1:c.4882A>T
  • NM_001407694.1:c.4882A>T
  • NM_001407695.1:c.4882A>T
  • NM_001407696.1:c.4882A>T
  • NM_001407697.1:c.4882A>T
  • NM_001407698.1:c.4882A>T
  • NM_001407724.1:c.4882A>T
  • NM_001407725.1:c.4882A>T
  • NM_001407726.1:c.4882A>T
  • NM_001407727.1:c.4882A>T
  • NM_001407728.1:c.4882A>T
  • NM_001407729.1:c.4882A>T
  • NM_001407730.1:c.4882A>T
  • NM_001407731.1:c.4882A>T
  • NM_001407732.1:c.4879A>T
  • NM_001407733.1:c.4879A>T
  • NM_001407734.1:c.4879A>T
  • NM_001407735.1:c.4879A>T
  • NM_001407736.1:c.4879A>T
  • NM_001407737.1:c.4879A>T
  • NM_001407738.1:c.4879A>T
  • NM_001407739.1:c.4879A>T
  • NM_001407740.1:c.4879A>T
  • NM_001407741.1:c.4879A>T
  • NM_001407742.1:c.4879A>T
  • NM_001407743.1:c.4879A>T
  • NM_001407744.1:c.4879A>T
  • NM_001407745.1:c.4879A>T
  • NM_001407746.1:c.4879A>T
  • NM_001407747.1:c.4879A>T
  • NM_001407748.1:c.4879A>T
  • NM_001407749.1:c.4879A>T
  • NM_001407750.1:c.4879A>T
  • NM_001407751.1:c.4879A>T
  • NM_001407752.1:c.4879A>T
  • NM_001407838.1:c.4876A>T
  • NM_001407839.1:c.4876A>T
  • NM_001407841.1:c.4876A>T
  • NM_001407842.1:c.4876A>T
  • NM_001407843.1:c.4876A>T
  • NM_001407844.1:c.4876A>T
  • NM_001407845.1:c.4876A>T
  • NM_001407846.1:c.4876A>T
  • NM_001407847.1:c.4876A>T
  • NM_001407848.1:c.4876A>T
  • NM_001407849.1:c.4876A>T
  • NM_001407850.1:c.4876A>T
  • NM_001407851.1:c.4876A>T
  • NM_001407852.1:c.4876A>T
  • NM_001407853.1:c.4876A>T
  • NM_001407854.1:c.5023A>T
  • NM_001407858.1:c.5020A>T
  • NM_001407859.1:c.5020A>T
  • NM_001407860.1:c.5020A>T
  • NM_001407861.1:c.5017A>T
  • NM_001407862.1:c.4822A>T
  • NM_001407863.1:c.4897A>T
  • NM_001407874.1:c.4816A>T
  • NM_001407875.1:c.4816A>T
  • NM_001407879.1:c.4813A>T
  • NM_001407881.1:c.4813A>T
  • NM_001407882.1:c.4813A>T
  • NM_001407884.1:c.4813A>T
  • NM_001407885.1:c.4813A>T
  • NM_001407886.1:c.4813A>T
  • NM_001407887.1:c.4813A>T
  • NM_001407889.1:c.4813A>T
  • NM_001407894.1:c.4810A>T
  • NM_001407895.1:c.4810A>T
  • NM_001407896.1:c.4810A>T
  • NM_001407897.1:c.4810A>T
  • NM_001407898.1:c.4810A>T
  • NM_001407899.1:c.4810A>T
  • NM_001407900.1:c.4810A>T
  • NM_001407902.1:c.4810A>T
  • NM_001407904.1:c.4810A>T
  • NM_001407906.1:c.4810A>T
  • NM_001407907.1:c.4810A>T
  • NM_001407908.1:c.4810A>T
  • NM_001407909.1:c.4810A>T
  • NM_001407910.1:c.4810A>T
  • NM_001407915.1:c.4807A>T
  • NM_001407916.1:c.4807A>T
  • NM_001407917.1:c.4807A>T
  • NM_001407918.1:c.4807A>T
  • NM_001407919.1:c.4900A>T
  • NM_001407920.1:c.4759A>T
  • NM_001407921.1:c.4759A>T
  • NM_001407922.1:c.4759A>T
  • NM_001407923.1:c.4759A>T
  • NM_001407924.1:c.4759A>T
  • NM_001407925.1:c.4759A>T
  • NM_001407926.1:c.4759A>T
  • NM_001407927.1:c.4756A>T
  • NM_001407928.1:c.4756A>T
  • NM_001407929.1:c.4756A>T
  • NM_001407930.1:c.4756A>T
  • NM_001407931.1:c.4756A>T
  • NM_001407932.1:c.4756A>T
  • NM_001407933.1:c.4756A>T
  • NM_001407934.1:c.4753A>T
  • NM_001407935.1:c.4753A>T
  • NM_001407936.1:c.4753A>T
  • NM_001407937.1:c.4900A>T
  • NM_001407938.1:c.4900A>T
  • NM_001407939.1:c.4897A>T
  • NM_001407940.1:c.4897A>T
  • NM_001407941.1:c.4894A>T
  • NM_001407942.1:c.4882A>T
  • NM_001407943.1:c.4879A>T
  • NM_001407944.1:c.4879A>T
  • NM_001407945.1:c.4879A>T
  • NM_001407946.1:c.4690A>T
  • NM_001407947.1:c.4690A>T
  • NM_001407948.1:c.4690A>T
  • NM_001407949.1:c.4690A>T
  • NM_001407950.1:c.4687A>T
  • NM_001407951.1:c.4687A>T
  • NM_001407952.1:c.4687A>T
  • NM_001407953.1:c.4687A>T
  • NM_001407954.1:c.4687A>T
  • NM_001407955.1:c.4687A>T
  • NM_001407956.1:c.4684A>T
  • NM_001407957.1:c.4684A>T
  • NM_001407958.1:c.4684A>T
  • NM_001407959.1:c.4642A>T
  • NM_001407960.1:c.4639A>T
  • NM_001407962.1:c.4639A>T
  • NM_001407963.1:c.4636A>T
  • NM_001407964.1:c.4561A>T
  • NM_001407965.1:c.4516A>T
  • NM_001407966.1:c.4135A>T
  • NM_001407967.1:c.4132A>T
  • NM_001407968.1:c.2419A>T
  • NM_001407969.1:c.2416A>T
  • NM_001407970.1:c.1780A>T
  • NM_001407971.1:c.1780A>T
  • NM_001407972.1:c.1777A>T
  • NM_001407973.1:c.1714A>T
  • NM_001407974.1:c.1714A>T
  • NM_001407975.1:c.1714A>T
  • NM_001407976.1:c.1714A>T
  • NM_001407977.1:c.1714A>T
  • NM_001407978.1:c.1714A>T
  • NM_001407979.1:c.1711A>T
  • NM_001407980.1:c.1711A>T
  • NM_001407981.1:c.1711A>T
  • NM_001407982.1:c.1711A>T
  • NM_001407983.1:c.1711A>T
  • NM_001407984.1:c.1711A>T
  • NM_001407985.1:c.1711A>T
  • NM_001407986.1:c.1711A>T
  • NM_001407990.1:c.1711A>T
  • NM_001407991.1:c.1711A>T
  • NM_001407992.1:c.1711A>T
  • NM_001407993.1:c.1711A>T
  • NM_001408392.1:c.1708A>T
  • NM_001408396.1:c.1708A>T
  • NM_001408397.1:c.1708A>T
  • NM_001408398.1:c.1708A>T
  • NM_001408399.1:c.1708A>T
  • NM_001408400.1:c.1708A>T
  • NM_001408401.1:c.1708A>T
  • NM_001408402.1:c.1708A>T
  • NM_001408403.1:c.1708A>T
  • NM_001408404.1:c.1708A>T
  • NM_001408406.1:c.1705A>T
  • NM_001408407.1:c.1705A>T
  • NM_001408408.1:c.1705A>T
  • NM_001408409.1:c.1702A>T
  • NM_001408410.1:c.1639A>T
  • NM_001408411.1:c.1636A>T
  • NM_001408412.1:c.1633A>T
  • NM_001408413.1:c.1633A>T
  • NM_001408414.1:c.1633A>T
  • NM_001408415.1:c.1633A>T
  • NM_001408416.1:c.1633A>T
  • NM_001408418.1:c.1597A>T
  • NM_001408419.1:c.1597A>T
  • NM_001408420.1:c.1597A>T
  • NM_001408421.1:c.1594A>T
  • NM_001408422.1:c.1594A>T
  • NM_001408423.1:c.1594A>T
  • NM_001408424.1:c.1594A>T
  • NM_001408425.1:c.1591A>T
  • NM_001408426.1:c.1591A>T
  • NM_001408427.1:c.1591A>T
  • NM_001408428.1:c.1591A>T
  • NM_001408429.1:c.1591A>T
  • NM_001408430.1:c.1591A>T
  • NM_001408431.1:c.1591A>T
  • NM_001408432.1:c.1588A>T
  • NM_001408433.1:c.1588A>T
  • NM_001408434.1:c.1588A>T
  • NM_001408435.1:c.1588A>T
  • NM_001408436.1:c.1588A>T
  • NM_001408437.1:c.1588A>T
  • NM_001408438.1:c.1588A>T
  • NM_001408439.1:c.1588A>T
  • NM_001408440.1:c.1588A>T
  • NM_001408441.1:c.1588A>T
  • NM_001408442.1:c.1588A>T
  • NM_001408443.1:c.1588A>T
  • NM_001408444.1:c.1588A>T
  • NM_001408445.1:c.1585A>T
  • NM_001408446.1:c.1585A>T
  • NM_001408447.1:c.1585A>T
  • NM_001408448.1:c.1585A>T
  • NM_001408450.1:c.1585A>T
  • NM_001408451.1:c.1579A>T
  • NM_001408452.1:c.1573A>T
  • NM_001408453.1:c.1573A>T
  • NM_001408454.1:c.1573A>T
  • NM_001408455.1:c.1573A>T
  • NM_001408456.1:c.1573A>T
  • NM_001408457.1:c.1573A>T
  • NM_001408458.1:c.1570A>T
  • NM_001408459.1:c.1570A>T
  • NM_001408460.1:c.1570A>T
  • NM_001408461.1:c.1570A>T
  • NM_001408462.1:c.1570A>T
  • NM_001408463.1:c.1570A>T
  • NM_001408464.1:c.1570A>T
  • NM_001408465.1:c.1570A>T
  • NM_001408466.1:c.1570A>T
  • NM_001408467.1:c.1570A>T
  • NM_001408468.1:c.1567A>T
  • NM_001408469.1:c.1567A>T
  • NM_001408470.1:c.1567A>T
  • NM_001408472.1:c.1711A>T
  • NM_001408473.1:c.1708A>T
  • NM_001408474.1:c.1513A>T
  • NM_001408475.1:c.1510A>T
  • NM_001408476.1:c.1510A>T
  • NM_001408478.1:c.1504A>T
  • NM_001408479.1:c.1504A>T
  • NM_001408480.1:c.1504A>T
  • NM_001408481.1:c.1501A>T
  • NM_001408482.1:c.1501A>T
  • NM_001408483.1:c.1501A>T
  • NM_001408484.1:c.1501A>T
  • NM_001408485.1:c.1501A>T
  • NM_001408489.1:c.1501A>T
  • NM_001408490.1:c.1501A>T
  • NM_001408491.1:c.1501A>T
  • NM_001408492.1:c.1498A>T
  • NM_001408493.1:c.1498A>T
  • NM_001408494.1:c.1474A>T
  • NM_001408495.1:c.1468A>T
  • NM_001408496.1:c.1450A>T
  • NM_001408497.1:c.1450A>T
  • NM_001408498.1:c.1450A>T
  • NM_001408499.1:c.1450A>T
  • NM_001408500.1:c.1450A>T
  • NM_001408501.1:c.1450A>T
  • NM_001408502.1:c.1447A>T
  • NM_001408503.1:c.1447A>T
  • NM_001408504.1:c.1447A>T
  • NM_001408505.1:c.1444A>T
  • NM_001408506.1:c.1387A>T
  • NM_001408507.1:c.1384A>T
  • NM_001408508.1:c.1375A>T
  • NM_001408509.1:c.1372A>T
  • NM_001408510.1:c.1333A>T
  • NM_001408511.1:c.1330A>T
  • NM_001408512.1:c.1210A>T
  • NM_001408513.1:c.1183A>T
  • NM_007294.4:c.5023A>TMANE SELECT
  • NM_007297.4:c.4882A>T
  • NM_007298.4:c.1711A>T
  • NM_007299.4:c.1711A>T
  • NM_007300.4:c.5086A>T
  • NM_007304.2:c.1711A>T
  • NP_001394500.1:p.Thr1604Ser
  • NP_001394510.1:p.Thr1697Ser
  • NP_001394511.1:p.Thr1697Ser
  • NP_001394512.1:p.Thr1696Ser
  • NP_001394514.1:p.Thr1696Ser
  • NP_001394516.1:p.Thr1696Ser
  • NP_001394519.1:p.Thr1695Ser
  • NP_001394520.1:p.Thr1695Ser
  • NP_001394522.1:p.Thr1675Ser
  • NP_001394523.1:p.Thr1675Ser
  • NP_001394525.1:p.Thr1675Ser
  • NP_001394526.1:p.Thr1675Ser
  • NP_001394527.1:p.Thr1675Ser
  • NP_001394531.1:p.Thr1675Ser
  • NP_001394532.1:p.Thr1675Ser
  • NP_001394534.1:p.Thr1675Ser
  • NP_001394539.1:p.Thr1674Ser
  • NP_001394540.1:p.Thr1674Ser
  • NP_001394541.1:p.Thr1674Ser
  • NP_001394542.1:p.Thr1674Ser
  • NP_001394543.1:p.Thr1674Ser
  • NP_001394544.1:p.Thr1674Ser
  • NP_001394545.1:p.Thr1674Ser
  • NP_001394546.1:p.Thr1674Ser
  • NP_001394547.1:p.Thr1674Ser
  • NP_001394548.1:p.Thr1674Ser
  • NP_001394549.1:p.Thr1674Ser
  • NP_001394550.1:p.Thr1674Ser
  • NP_001394551.1:p.Thr1674Ser
  • NP_001394552.1:p.Thr1674Ser
  • NP_001394553.1:p.Thr1674Ser
  • NP_001394554.1:p.Thr1674Ser
  • NP_001394555.1:p.Thr1674Ser
  • NP_001394556.1:p.Thr1673Ser
  • NP_001394557.1:p.Thr1673Ser
  • NP_001394558.1:p.Thr1673Ser
  • NP_001394559.1:p.Thr1673Ser
  • NP_001394560.1:p.Thr1673Ser
  • NP_001394561.1:p.Thr1673Ser
  • NP_001394562.1:p.Thr1673Ser
  • NP_001394563.1:p.Thr1673Ser
  • NP_001394564.1:p.Thr1673Ser
  • NP_001394565.1:p.Thr1673Ser
  • NP_001394566.1:p.Thr1673Ser
  • NP_001394567.1:p.Thr1673Ser
  • NP_001394568.1:p.Thr1673Ser
  • NP_001394569.1:p.Thr1673Ser
  • NP_001394570.1:p.Thr1673Ser
  • NP_001394571.1:p.Thr1673Ser
  • NP_001394573.1:p.Thr1672Ser
  • NP_001394574.1:p.Thr1672Ser
  • NP_001394575.1:p.Thr1671Ser
  • NP_001394576.1:p.Thr1670Ser
  • NP_001394577.1:p.Thr1656Ser
  • NP_001394578.1:p.Thr1655Ser
  • NP_001394581.1:p.Thr1675Ser
  • NP_001394582.1:p.Thr1649Ser
  • NP_001394583.1:p.Thr1649Ser
  • NP_001394584.1:p.Thr1649Ser
  • NP_001394585.1:p.Thr1648Ser
  • NP_001394586.1:p.Thr1648Ser
  • NP_001394587.1:p.Thr1648Ser
  • NP_001394588.1:p.Thr1647Ser
  • NP_001394589.1:p.Thr1647Ser
  • NP_001394590.1:p.Thr1647Ser
  • NP_001394591.1:p.Thr1647Ser
  • NP_001394592.1:p.Thr1647Ser
  • NP_001394593.1:p.Thr1634Ser
  • NP_001394594.1:p.Thr1634Ser
  • NP_001394595.1:p.Thr1634Ser
  • NP_001394596.1:p.Thr1634Ser
  • NP_001394597.1:p.Thr1634Ser
  • NP_001394598.1:p.Thr1634Ser
  • NP_001394599.1:p.Thr1633Ser
  • NP_001394600.1:p.Thr1633Ser
  • NP_001394601.1:p.Thr1633Ser
  • NP_001394602.1:p.Thr1633Ser
  • NP_001394603.1:p.Thr1633Ser
  • NP_001394604.1:p.Thr1633Ser
  • NP_001394605.1:p.Thr1633Ser
  • NP_001394606.1:p.Thr1633Ser
  • NP_001394607.1:p.Thr1633Ser
  • NP_001394608.1:p.Thr1633Ser
  • NP_001394609.1:p.Thr1633Ser
  • NP_001394610.1:p.Thr1632Ser
  • NP_001394611.1:p.Thr1632Ser
  • NP_001394612.1:p.Thr1632Ser
  • NP_001394613.1:p.Thr1675Ser
  • NP_001394614.1:p.Thr1632Ser
  • NP_001394615.1:p.Thr1632Ser
  • NP_001394616.1:p.Thr1632Ser
  • NP_001394617.1:p.Thr1632Ser
  • NP_001394618.1:p.Thr1632Ser
  • NP_001394619.1:p.Thr1631Ser
  • NP_001394620.1:p.Thr1631Ser
  • NP_001394621.1:p.Thr1628Ser
  • NP_001394623.1:p.Thr1628Ser
  • NP_001394624.1:p.Thr1628Ser
  • NP_001394625.1:p.Thr1628Ser
  • NP_001394626.1:p.Thr1628Ser
  • NP_001394627.1:p.Thr1628Ser
  • NP_001394653.1:p.Thr1628Ser
  • NP_001394654.1:p.Thr1628Ser
  • NP_001394655.1:p.Thr1628Ser
  • NP_001394656.1:p.Thr1628Ser
  • NP_001394657.1:p.Thr1628Ser
  • NP_001394658.1:p.Thr1628Ser
  • NP_001394659.1:p.Thr1628Ser
  • NP_001394660.1:p.Thr1628Ser
  • NP_001394661.1:p.Thr1627Ser
  • NP_001394662.1:p.Thr1627Ser
  • NP_001394663.1:p.Thr1627Ser
  • NP_001394664.1:p.Thr1627Ser
  • NP_001394665.1:p.Thr1627Ser
  • NP_001394666.1:p.Thr1627Ser
  • NP_001394667.1:p.Thr1627Ser
  • NP_001394668.1:p.Thr1627Ser
  • NP_001394669.1:p.Thr1627Ser
  • NP_001394670.1:p.Thr1627Ser
  • NP_001394671.1:p.Thr1627Ser
  • NP_001394672.1:p.Thr1627Ser
  • NP_001394673.1:p.Thr1627Ser
  • NP_001394674.1:p.Thr1627Ser
  • NP_001394675.1:p.Thr1627Ser
  • NP_001394676.1:p.Thr1627Ser
  • NP_001394677.1:p.Thr1627Ser
  • NP_001394678.1:p.Thr1627Ser
  • NP_001394679.1:p.Thr1627Ser
  • NP_001394680.1:p.Thr1627Ser
  • NP_001394681.1:p.Thr1627Ser
  • NP_001394767.1:p.Thr1626Ser
  • NP_001394768.1:p.Thr1626Ser
  • NP_001394770.1:p.Thr1626Ser
  • NP_001394771.1:p.Thr1626Ser
  • NP_001394772.1:p.Thr1626Ser
  • NP_001394773.1:p.Thr1626Ser
  • NP_001394774.1:p.Thr1626Ser
  • NP_001394775.1:p.Thr1626Ser
  • NP_001394776.1:p.Thr1626Ser
  • NP_001394777.1:p.Thr1626Ser
  • NP_001394778.1:p.Thr1626Ser
  • NP_001394779.1:p.Thr1626Ser
  • NP_001394780.1:p.Thr1626Ser
  • NP_001394781.1:p.Thr1626Ser
  • NP_001394782.1:p.Thr1626Ser
  • NP_001394783.1:p.Thr1675Ser
  • NP_001394787.1:p.Thr1674Ser
  • NP_001394788.1:p.Thr1674Ser
  • NP_001394789.1:p.Thr1674Ser
  • NP_001394790.1:p.Thr1673Ser
  • NP_001394791.1:p.Thr1608Ser
  • NP_001394792.1:p.Thr1633Ser
  • NP_001394803.1:p.Thr1606Ser
  • NP_001394804.1:p.Thr1606Ser
  • NP_001394808.1:p.Thr1605Ser
  • NP_001394810.1:p.Thr1605Ser
  • NP_001394811.1:p.Thr1605Ser
  • NP_001394813.1:p.Thr1605Ser
  • NP_001394814.1:p.Thr1605Ser
  • NP_001394815.1:p.Thr1605Ser
  • NP_001394816.1:p.Thr1605Ser
  • NP_001394818.1:p.Thr1605Ser
  • NP_001394823.1:p.Thr1604Ser
  • NP_001394824.1:p.Thr1604Ser
  • NP_001394825.1:p.Thr1604Ser
  • NP_001394826.1:p.Thr1604Ser
  • NP_001394827.1:p.Thr1604Ser
  • NP_001394828.1:p.Thr1604Ser
  • NP_001394829.1:p.Thr1604Ser
  • NP_001394831.1:p.Thr1604Ser
  • NP_001394833.1:p.Thr1604Ser
  • NP_001394835.1:p.Thr1604Ser
  • NP_001394836.1:p.Thr1604Ser
  • NP_001394837.1:p.Thr1604Ser
  • NP_001394838.1:p.Thr1604Ser
  • NP_001394839.1:p.Thr1604Ser
  • NP_001394844.1:p.Thr1603Ser
  • NP_001394845.1:p.Thr1603Ser
  • NP_001394846.1:p.Thr1603Ser
  • NP_001394847.1:p.Thr1603Ser
  • NP_001394848.1:p.Thr1634Ser
  • NP_001394849.1:p.Thr1587Ser
  • NP_001394850.1:p.Thr1587Ser
  • NP_001394851.1:p.Thr1587Ser
  • NP_001394852.1:p.Thr1587Ser
  • NP_001394853.1:p.Thr1587Ser
  • NP_001394854.1:p.Thr1587Ser
  • NP_001394855.1:p.Thr1587Ser
  • NP_001394856.1:p.Thr1586Ser
  • NP_001394857.1:p.Thr1586Ser
  • NP_001394858.1:p.Thr1586Ser
  • NP_001394859.1:p.Thr1586Ser
  • NP_001394860.1:p.Thr1586Ser
  • NP_001394861.1:p.Thr1586Ser
  • NP_001394862.1:p.Thr1586Ser
  • NP_001394863.1:p.Thr1585Ser
  • NP_001394864.1:p.Thr1585Ser
  • NP_001394865.1:p.Thr1585Ser
  • NP_001394866.1:p.Thr1634Ser
  • NP_001394867.1:p.Thr1634Ser
  • NP_001394868.1:p.Thr1633Ser
  • NP_001394869.1:p.Thr1633Ser
  • NP_001394870.1:p.Thr1632Ser
  • NP_001394871.1:p.Thr1628Ser
  • NP_001394872.1:p.Thr1627Ser
  • NP_001394873.1:p.Thr1627Ser
  • NP_001394874.1:p.Thr1627Ser
  • NP_001394875.1:p.Thr1564Ser
  • NP_001394876.1:p.Thr1564Ser
  • NP_001394877.1:p.Thr1564Ser
  • NP_001394878.1:p.Thr1564Ser
  • NP_001394879.1:p.Thr1563Ser
  • NP_001394880.1:p.Thr1563Ser
  • NP_001394881.1:p.Thr1563Ser
  • NP_001394882.1:p.Thr1563Ser
  • NP_001394883.1:p.Thr1563Ser
  • NP_001394884.1:p.Thr1563Ser
  • NP_001394885.1:p.Thr1562Ser
  • NP_001394886.1:p.Thr1562Ser
  • NP_001394887.1:p.Thr1562Ser
  • NP_001394888.1:p.Thr1548Ser
  • NP_001394889.1:p.Thr1547Ser
  • NP_001394891.1:p.Thr1547Ser
  • NP_001394892.1:p.Thr1546Ser
  • NP_001394893.1:p.Thr1521Ser
  • NP_001394894.1:p.Thr1506Ser
  • NP_001394895.1:p.Thr1379Ser
  • NP_001394896.1:p.Thr1378Ser
  • NP_001394897.1:p.Thr807Ser
  • NP_001394898.1:p.Thr806Ser
  • NP_001394899.1:p.Thr594Ser
  • NP_001394900.1:p.Thr594Ser
  • NP_001394901.1:p.Thr593Ser
  • NP_001394902.1:p.Thr572Ser
  • NP_001394903.1:p.Thr572Ser
  • NP_001394904.1:p.Thr572Ser
  • NP_001394905.1:p.Thr572Ser
  • NP_001394906.1:p.Thr572Ser
  • NP_001394907.1:p.Thr572Ser
  • NP_001394908.1:p.Thr571Ser
  • NP_001394909.1:p.Thr571Ser
  • NP_001394910.1:p.Thr571Ser
  • NP_001394911.1:p.Thr571Ser
  • NP_001394912.1:p.Thr571Ser
  • NP_001394913.1:p.Thr571Ser
  • NP_001394914.1:p.Thr571Ser
  • NP_001394915.1:p.Thr571Ser
  • NP_001394919.1:p.Thr571Ser
  • NP_001394920.1:p.Thr571Ser
  • NP_001394921.1:p.Thr571Ser
  • NP_001394922.1:p.Thr571Ser
  • NP_001395321.1:p.Thr570Ser
  • NP_001395325.1:p.Thr570Ser
  • NP_001395326.1:p.Thr570Ser
  • NP_001395327.1:p.Thr570Ser
  • NP_001395328.1:p.Thr570Ser
  • NP_001395329.1:p.Thr570Ser
  • NP_001395330.1:p.Thr570Ser
  • NP_001395331.1:p.Thr570Ser
  • NP_001395332.1:p.Thr570Ser
  • NP_001395333.1:p.Thr570Ser
  • NP_001395335.1:p.Thr569Ser
  • NP_001395336.1:p.Thr569Ser
  • NP_001395337.1:p.Thr569Ser
  • NP_001395338.1:p.Thr568Ser
  • NP_001395339.1:p.Thr547Ser
  • NP_001395340.1:p.Thr546Ser
  • NP_001395341.1:p.Thr545Ser
  • NP_001395342.1:p.Thr545Ser
  • NP_001395343.1:p.Thr545Ser
  • NP_001395344.1:p.Thr545Ser
  • NP_001395345.1:p.Thr545Ser
  • NP_001395347.1:p.Thr533Ser
  • NP_001395348.1:p.Thr533Ser
  • NP_001395349.1:p.Thr533Ser
  • NP_001395350.1:p.Thr532Ser
  • NP_001395351.1:p.Thr532Ser
  • NP_001395352.1:p.Thr532Ser
  • NP_001395353.1:p.Thr532Ser
  • NP_001395354.1:p.Thr531Ser
  • NP_001395355.1:p.Thr531Ser
  • NP_001395356.1:p.Thr531Ser
  • NP_001395357.1:p.Thr531Ser
  • NP_001395358.1:p.Thr531Ser
  • NP_001395359.1:p.Thr531Ser
  • NP_001395360.1:p.Thr531Ser
  • NP_001395361.1:p.Thr530Ser
  • NP_001395362.1:p.Thr530Ser
  • NP_001395363.1:p.Thr530Ser
  • NP_001395364.1:p.Thr530Ser
  • NP_001395365.1:p.Thr530Ser
  • NP_001395366.1:p.Thr530Ser
  • NP_001395367.1:p.Thr530Ser
  • NP_001395368.1:p.Thr530Ser
  • NP_001395369.1:p.Thr530Ser
  • NP_001395370.1:p.Thr530Ser
  • NP_001395371.1:p.Thr530Ser
  • NP_001395372.1:p.Thr530Ser
  • NP_001395373.1:p.Thr530Ser
  • NP_001395374.1:p.Thr529Ser
  • NP_001395375.1:p.Thr529Ser
  • NP_001395376.1:p.Thr529Ser
  • NP_001395377.1:p.Thr529Ser
  • NP_001395379.1:p.Thr529Ser
  • NP_001395380.1:p.Thr527Ser
  • NP_001395381.1:p.Thr525Ser
  • NP_001395382.1:p.Thr525Ser
  • NP_001395383.1:p.Thr525Ser
  • NP_001395384.1:p.Thr525Ser
  • NP_001395385.1:p.Thr525Ser
  • NP_001395386.1:p.Thr525Ser
  • NP_001395387.1:p.Thr524Ser
  • NP_001395388.1:p.Thr524Ser
  • NP_001395389.1:p.Thr524Ser
  • NP_001395390.1:p.Thr524Ser
  • NP_001395391.1:p.Thr524Ser
  • NP_001395392.1:p.Thr524Ser
  • NP_001395393.1:p.Thr524Ser
  • NP_001395394.1:p.Thr524Ser
  • NP_001395395.1:p.Thr524Ser
  • NP_001395396.1:p.Thr524Ser
  • NP_001395397.1:p.Thr523Ser
  • NP_001395398.1:p.Thr523Ser
  • NP_001395399.1:p.Thr523Ser
  • NP_001395401.1:p.Thr571Ser
  • NP_001395402.1:p.Thr570Ser
  • NP_001395403.1:p.Thr505Ser
  • NP_001395404.1:p.Thr504Ser
  • NP_001395405.1:p.Thr504Ser
  • NP_001395407.1:p.Thr502Ser
  • NP_001395408.1:p.Thr502Ser
  • NP_001395409.1:p.Thr502Ser
  • NP_001395410.1:p.Thr501Ser
  • NP_001395411.1:p.Thr501Ser
  • NP_001395412.1:p.Thr501Ser
  • NP_001395413.1:p.Thr501Ser
  • NP_001395414.1:p.Thr501Ser
  • NP_001395418.1:p.Thr501Ser
  • NP_001395419.1:p.Thr501Ser
  • NP_001395420.1:p.Thr501Ser
  • NP_001395421.1:p.Thr500Ser
  • NP_001395422.1:p.Thr500Ser
  • NP_001395423.1:p.Thr492Ser
  • NP_001395424.1:p.Thr490Ser
  • NP_001395425.1:p.Thr484Ser
  • NP_001395426.1:p.Thr484Ser
  • NP_001395427.1:p.Thr484Ser
  • NP_001395428.1:p.Thr484Ser
  • NP_001395429.1:p.Thr484Ser
  • NP_001395430.1:p.Thr484Ser
  • NP_001395431.1:p.Thr483Ser
  • NP_001395432.1:p.Thr483Ser
  • NP_001395433.1:p.Thr483Ser
  • NP_001395434.1:p.Thr482Ser
  • NP_001395435.1:p.Thr463Ser
  • NP_001395436.1:p.Thr462Ser
  • NP_001395437.1:p.Thr459Ser
  • NP_001395438.1:p.Thr458Ser
  • NP_001395439.1:p.Thr445Ser
  • NP_001395440.1:p.Thr444Ser
  • NP_001395441.1:p.Thr404Ser
  • NP_001395442.1:p.Thr395Ser
  • NP_009225.1:p.Thr1675Ser
  • NP_009225.1:p.Thr1675Ser
  • NP_009228.2:p.Thr1628Ser
  • NP_009229.2:p.Thr571Ser
  • NP_009229.2:p.Thr571Ser
  • NP_009230.2:p.Thr571Ser
  • NP_009231.2:p.Thr1696Ser
  • NP_009235.2:p.Thr571Ser
  • LRG_292t1:c.5023A>T
  • LRG_292:g.150325A>T
  • LRG_292p1:p.Thr1675Ser
  • NC_000017.10:g.41219676T>A
  • NM_007294.3:c.5023A>T
  • NM_007298.3:c.1711A>T
  • NR_027676.2:n.5200A>T
Protein change:
T1378S
Links:
dbSNP: rs774452090
NCBI 1000 Genomes Browser:
rs774452090
Molecular consequence:
  • NM_001407571.1:c.4810A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.5089A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.5089A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.5086A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.5086A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.5086A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.5083A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.5083A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.5023A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.5023A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.5023A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.5023A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.5023A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.5023A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.5023A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.5023A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.5020A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.5020A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.5020A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.5020A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.5020A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.5020A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.5020A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.5020A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.5020A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.5020A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.5020A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.5020A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.5020A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.5020A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.5020A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.5020A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.5020A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.5017A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.5017A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.5017A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.5017A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.5017A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.5017A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.5017A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.5017A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.5017A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.5017A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.5017A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.5017A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.5017A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.5017A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.5017A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.5017A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.5014A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.5014A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.5011A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.5008A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.4966A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.4963A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.5023A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.4945A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.4945A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.4945A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.4942A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.4942A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.4942A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.4939A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.4939A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.4939A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.4939A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.4939A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.4900A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.4900A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.4900A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.4900A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.4900A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.4900A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.4897A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.4897A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.4897A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.4897A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.4897A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.4897A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.4897A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.4897A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.4897A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.4897A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.4897A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.4894A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.4894A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.4894A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.5023A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.4894A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.4894A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.4894A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.4894A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.4894A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.4891A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.4891A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.4882A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.4882A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.4882A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.4882A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.4882A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.4882A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.4882A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.4882A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.4882A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.4882A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.4882A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.4882A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.4882A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.4882A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.4879A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.4879A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.4879A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.4879A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.4879A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.4879A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.4879A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.4879A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.4879A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.4879A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.4879A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.4879A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.4879A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.4879A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.4879A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.4879A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.4879A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.4879A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.4879A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.4879A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.4879A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.4876A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.4876A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.4876A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.4876A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.4876A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.4876A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.4876A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.4876A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.4876A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.4876A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.4876A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.4876A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.4876A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.4876A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.4876A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.5023A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.5020A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.5020A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.5020A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.5017A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.4822A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.4897A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.4816A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.4816A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.4813A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.4813A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.4813A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.4813A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.4813A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.4813A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.4813A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.4813A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.4810A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.4810A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.4810A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.4810A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.4810A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.4810A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.4810A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.4810A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.4810A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.4810A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.4810A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.4810A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.4810A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.4810A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.4807A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.4807A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.4807A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.4807A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.4900A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.4759A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.4759A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.4759A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.4759A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.4759A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.4759A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.4759A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.4756A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.4756A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.4756A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.4756A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.4756A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.4756A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.4756A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.4753A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.4753A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.4753A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.4900A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.4900A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.4897A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.4897A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.4894A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.4882A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.4879A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.4879A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.4879A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.4690A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.4690A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.4690A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.4690A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.4687A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.4687A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.4687A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.4687A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.4687A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.4687A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.4684A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.4684A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.4684A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.4642A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.4639A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.4639A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.4636A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.4561A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.4516A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.4135A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.4132A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.2419A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.2416A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407970.1:c.1780A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407971.1:c.1780A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407972.1:c.1777A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407973.1:c.1714A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407974.1:c.1714A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407975.1:c.1714A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407976.1:c.1714A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407977.1:c.1714A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407978.1:c.1714A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407979.1:c.1711A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407980.1:c.1711A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407981.1:c.1711A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407982.1:c.1711A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407983.1:c.1711A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407984.1:c.1711A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407985.1:c.1711A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407986.1:c.1711A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407990.1:c.1711A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407991.1:c.1711A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407992.1:c.1711A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407993.1:c.1711A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408392.1:c.1708A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408396.1:c.1708A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408397.1:c.1708A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408398.1:c.1708A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408399.1:c.1708A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408400.1:c.1708A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408401.1:c.1708A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408402.1:c.1708A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408403.1:c.1708A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408404.1:c.1708A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408406.1:c.1705A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408407.1:c.1705A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408408.1:c.1705A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408409.1:c.1702A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408410.1:c.1639A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408411.1:c.1636A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408412.1:c.1633A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408413.1:c.1633A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408414.1:c.1633A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408415.1:c.1633A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408416.1:c.1633A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408418.1:c.1597A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408419.1:c.1597A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408420.1:c.1597A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408421.1:c.1594A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408422.1:c.1594A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408423.1:c.1594A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408424.1:c.1594A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408425.1:c.1591A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408426.1:c.1591A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408427.1:c.1591A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408428.1:c.1591A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408429.1:c.1591A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408430.1:c.1591A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408431.1:c.1591A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408432.1:c.1588A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408433.1:c.1588A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408434.1:c.1588A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408435.1:c.1588A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408436.1:c.1588A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408437.1:c.1588A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408438.1:c.1588A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408439.1:c.1588A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408440.1:c.1588A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408441.1:c.1588A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408442.1:c.1588A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408443.1:c.1588A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408444.1:c.1588A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408445.1:c.1585A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408446.1:c.1585A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408447.1:c.1585A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408448.1:c.1585A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408450.1:c.1585A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408451.1:c.1579A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408452.1:c.1573A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408453.1:c.1573A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408454.1:c.1573A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408455.1:c.1573A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408456.1:c.1573A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408457.1:c.1573A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408458.1:c.1570A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408459.1:c.1570A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408460.1:c.1570A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408461.1:c.1570A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408462.1:c.1570A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408463.1:c.1570A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408464.1:c.1570A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408465.1:c.1570A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408466.1:c.1570A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408467.1:c.1570A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408468.1:c.1567A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408469.1:c.1567A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408470.1:c.1567A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408472.1:c.1711A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408473.1:c.1708A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408474.1:c.1513A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408475.1:c.1510A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408476.1:c.1510A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408478.1:c.1504A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408479.1:c.1504A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408480.1:c.1504A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408481.1:c.1501A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408482.1:c.1501A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408483.1:c.1501A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408484.1:c.1501A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408485.1:c.1501A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408489.1:c.1501A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408490.1:c.1501A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408491.1:c.1501A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408492.1:c.1498A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408493.1:c.1498A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408494.1:c.1474A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408495.1:c.1468A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408496.1:c.1450A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408497.1:c.1450A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408498.1:c.1450A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408499.1:c.1450A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408500.1:c.1450A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408501.1:c.1450A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408502.1:c.1447A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408503.1:c.1447A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408504.1:c.1447A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408505.1:c.1444A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408506.1:c.1387A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408507.1:c.1384A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408508.1:c.1375A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408509.1:c.1372A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408510.1:c.1333A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408511.1:c.1330A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408512.1:c.1210A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408513.1:c.1183A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.5023A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.4882A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.4:c.1711A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007299.4:c.1711A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.5086A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007304.2:c.1711A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.5200A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Functional consequence:
functionally_normal [Sequence Ontology: SO:0002219] - Comment(s)
Observations:
1

Condition(s)

Name:
Breast-ovarian cancer, familial, susceptibility to, 1 (BROVCA1)
Synonyms:
OVARIAN CANCER, SUSCEPTIBILITY TO; Breast cancer, familial 1
Identifiers:
MONDO: MONDO:0011450; MedGen: C2676676; Orphanet: 145; OMIM: 604370

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001241973Brotman Baty Institute, University of Washington
no classification provided
not providednot applicablein vitro

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

Citation Link,

SCV004817602All of Us Research Program, National Institutes of Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain Significance
(May 4, 2023) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot applicablenot applicablenot providednot providednot providednot providednot providedin vitro
not providedgermlineunknown1not providednot provided108544not providedclinical testing

Citations

PubMed

CpG island hypermethylation of BRCA1 and loss of pRb as co-occurring events in basal/triple-negative breast cancer.

Stefansson OA, Jonasson JG, Olafsdottir K, Hilmarsdottir H, Olafsdottir G, Esteller M, Johannsson OT, Eyfjord JE.

Epigenetics. 2011 May;6(5):638-49. doi: 10.4161/epi.6.5.15667.

PubMed [citation]
PMID:
21593597
PMCID:
PMC3121973

Accurate classification of BRCA1 variants with saturation genome editing.

Findlay GM, Daza RM, Martin B, Zhang MD, Leith AP, Gasperini M, Janizek JD, Huang X, Starita LM, Shendure J.

Nature. 2018 Oct;562(7726):217-222. doi: 10.1038/s41586-018-0461-z. Epub 2018 Sep 12.

PubMed [citation]
PMID:
30209399
PMCID:
PMC6181777
See all PubMed Citations (4)

Details of each submission

From Brotman Baty Institute, University of Washington, SCV001241973.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedin vitro PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not applicablenot applicablenot providednot providednot providednot providednot providednot providednot provided

From All of Us Research Program, National Institutes of Health, SCV004817602.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (4)

Description

This missense variant replaces threonine with serine at codon 1675 of the BRCA1 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). A functional study has reported that this variant does not impact BRCA1 function in a haploid human cell proliferation assay (PMID: 30209399). This variant has been reported in at least two individuals affected with breast cancer (PMID: 21593597) and detected in a breast cancer case-control meta-analysis in 1/60463 cases and 0/53461 unaffected individuals (PMID: 33471991; Leiden Open Variation Database DB-ID BRCA1_006177). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown108544not providednot provided1not providednot providednot provided

Last Updated: Oct 8, 2024