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NM_007294.4(BRCA1):c.4454C>T (p.Thr1485Ile) AND Hereditary cancer-predisposing syndrome

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jun 12, 2020
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:
RCV000167166.11

Allele description [Variation Report for NM_007294.4(BRCA1):c.4454C>T (p.Thr1485Ile)]

NM_007294.4(BRCA1):c.4454C>T (p.Thr1485Ile)

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.4454C>T (p.Thr1485Ile)
HGVS:
  • NC_000017.11:g.43076518G>A
  • NG_005905.2:g.141466C>T
  • NM_001407571.1:c.4241C>T
  • NM_001407581.1:c.4520C>T
  • NM_001407582.1:c.4520C>T
  • NM_001407583.1:c.4517C>T
  • NM_001407585.1:c.4517C>T
  • NM_001407587.1:c.4517C>T
  • NM_001407590.1:c.4514C>T
  • NM_001407591.1:c.4514C>T
  • NM_001407593.1:c.4454C>T
  • NM_001407594.1:c.4454C>T
  • NM_001407596.1:c.4454C>T
  • NM_001407597.1:c.4454C>T
  • NM_001407598.1:c.4454C>T
  • NM_001407602.1:c.4454C>T
  • NM_001407603.1:c.4454C>T
  • NM_001407605.1:c.4454C>T
  • NM_001407610.1:c.4451C>T
  • NM_001407611.1:c.4451C>T
  • NM_001407612.1:c.4451C>T
  • NM_001407613.1:c.4451C>T
  • NM_001407614.1:c.4451C>T
  • NM_001407615.1:c.4451C>T
  • NM_001407616.1:c.4451C>T
  • NM_001407617.1:c.4451C>T
  • NM_001407618.1:c.4451C>T
  • NM_001407619.1:c.4451C>T
  • NM_001407620.1:c.4451C>T
  • NM_001407621.1:c.4451C>T
  • NM_001407622.1:c.4451C>T
  • NM_001407623.1:c.4451C>T
  • NM_001407624.1:c.4451C>T
  • NM_001407625.1:c.4451C>T
  • NM_001407626.1:c.4451C>T
  • NM_001407627.1:c.4448C>T
  • NM_001407628.1:c.4448C>T
  • NM_001407629.1:c.4448C>T
  • NM_001407630.1:c.4448C>T
  • NM_001407631.1:c.4448C>T
  • NM_001407632.1:c.4448C>T
  • NM_001407633.1:c.4448C>T
  • NM_001407634.1:c.4448C>T
  • NM_001407635.1:c.4448C>T
  • NM_001407636.1:c.4448C>T
  • NM_001407637.1:c.4448C>T
  • NM_001407638.1:c.4448C>T
  • NM_001407639.1:c.4448C>T
  • NM_001407640.1:c.4448C>T
  • NM_001407641.1:c.4448C>T
  • NM_001407642.1:c.4448C>T
  • NM_001407644.1:c.4445C>T
  • NM_001407645.1:c.4445C>T
  • NM_001407646.1:c.4442C>T
  • NM_001407647.1:c.4439C>T
  • NM_001407648.1:c.4397C>T
  • NM_001407649.1:c.4394C>T
  • NM_001407652.1:c.4454C>T
  • NM_001407653.1:c.4376C>T
  • NM_001407654.1:c.4376C>T
  • NM_001407655.1:c.4376C>T
  • NM_001407656.1:c.4373C>T
  • NM_001407657.1:c.4373C>T
  • NM_001407658.1:c.4373C>T
  • NM_001407659.1:c.4370C>T
  • NM_001407660.1:c.4370C>T
  • NM_001407661.1:c.4370C>T
  • NM_001407662.1:c.4370C>T
  • NM_001407663.1:c.4370C>T
  • NM_001407664.1:c.4331C>T
  • NM_001407665.1:c.4331C>T
  • NM_001407666.1:c.4331C>T
  • NM_001407667.1:c.4331C>T
  • NM_001407668.1:c.4331C>T
  • NM_001407669.1:c.4331C>T
  • NM_001407670.1:c.4328C>T
  • NM_001407671.1:c.4328C>T
  • NM_001407672.1:c.4328C>T
  • NM_001407673.1:c.4328C>T
  • NM_001407674.1:c.4328C>T
  • NM_001407675.1:c.4328C>T
  • NM_001407676.1:c.4328C>T
  • NM_001407677.1:c.4328C>T
  • NM_001407678.1:c.4328C>T
  • NM_001407679.1:c.4328C>T
  • NM_001407680.1:c.4328C>T
  • NM_001407681.1:c.4325C>T
  • NM_001407682.1:c.4325C>T
  • NM_001407683.1:c.4325C>T
  • NM_001407684.1:c.4454C>T
  • NM_001407685.1:c.4325C>T
  • NM_001407686.1:c.4325C>T
  • NM_001407687.1:c.4325C>T
  • NM_001407688.1:c.4325C>T
  • NM_001407689.1:c.4325C>T
  • NM_001407690.1:c.4322C>T
  • NM_001407691.1:c.4322C>T
  • NM_001407692.1:c.4313C>T
  • NM_001407694.1:c.4313C>T
  • NM_001407695.1:c.4313C>T
  • NM_001407696.1:c.4313C>T
  • NM_001407697.1:c.4313C>T
  • NM_001407698.1:c.4313C>T
  • NM_001407724.1:c.4313C>T
  • NM_001407725.1:c.4313C>T
  • NM_001407726.1:c.4313C>T
  • NM_001407727.1:c.4313C>T
  • NM_001407728.1:c.4313C>T
  • NM_001407729.1:c.4313C>T
  • NM_001407730.1:c.4313C>T
  • NM_001407731.1:c.4313C>T
  • NM_001407732.1:c.4310C>T
  • NM_001407733.1:c.4310C>T
  • NM_001407734.1:c.4310C>T
  • NM_001407735.1:c.4310C>T
  • NM_001407736.1:c.4310C>T
  • NM_001407737.1:c.4310C>T
  • NM_001407738.1:c.4310C>T
  • NM_001407739.1:c.4310C>T
  • NM_001407740.1:c.4310C>T
  • NM_001407741.1:c.4310C>T
  • NM_001407742.1:c.4310C>T
  • NM_001407743.1:c.4310C>T
  • NM_001407744.1:c.4310C>T
  • NM_001407745.1:c.4310C>T
  • NM_001407746.1:c.4310C>T
  • NM_001407747.1:c.4310C>T
  • NM_001407748.1:c.4310C>T
  • NM_001407749.1:c.4310C>T
  • NM_001407750.1:c.4310C>T
  • NM_001407751.1:c.4310C>T
  • NM_001407752.1:c.4310C>T
  • NM_001407838.1:c.4307C>T
  • NM_001407839.1:c.4307C>T
  • NM_001407841.1:c.4307C>T
  • NM_001407842.1:c.4307C>T
  • NM_001407843.1:c.4307C>T
  • NM_001407844.1:c.4307C>T
  • NM_001407845.1:c.4307C>T
  • NM_001407846.1:c.4307C>T
  • NM_001407847.1:c.4307C>T
  • NM_001407848.1:c.4307C>T
  • NM_001407849.1:c.4307C>T
  • NM_001407850.1:c.4307C>T
  • NM_001407851.1:c.4307C>T
  • NM_001407852.1:c.4307C>T
  • NM_001407853.1:c.4307C>T
  • NM_001407854.1:c.4454C>T
  • NM_001407858.1:c.4451C>T
  • NM_001407859.1:c.4451C>T
  • NM_001407860.1:c.4451C>T
  • NM_001407861.1:c.4448C>T
  • NM_001407862.1:c.4253C>T
  • NM_001407863.1:c.4328C>T
  • NM_001407874.1:c.4247C>T
  • NM_001407875.1:c.4247C>T
  • NM_001407879.1:c.4244C>T
  • NM_001407881.1:c.4244C>T
  • NM_001407882.1:c.4244C>T
  • NM_001407884.1:c.4244C>T
  • NM_001407885.1:c.4244C>T
  • NM_001407886.1:c.4244C>T
  • NM_001407887.1:c.4244C>T
  • NM_001407889.1:c.4244C>T
  • NM_001407894.1:c.4241C>T
  • NM_001407895.1:c.4241C>T
  • NM_001407896.1:c.4241C>T
  • NM_001407897.1:c.4241C>T
  • NM_001407898.1:c.4241C>T
  • NM_001407899.1:c.4241C>T
  • NM_001407900.1:c.4241C>T
  • NM_001407902.1:c.4241C>T
  • NM_001407904.1:c.4241C>T
  • NM_001407906.1:c.4241C>T
  • NM_001407907.1:c.4241C>T
  • NM_001407908.1:c.4241C>T
  • NM_001407909.1:c.4241C>T
  • NM_001407910.1:c.4241C>T
  • NM_001407915.1:c.4238C>T
  • NM_001407916.1:c.4238C>T
  • NM_001407917.1:c.4238C>T
  • NM_001407918.1:c.4238C>T
  • NM_001407919.1:c.4331C>T
  • NM_001407920.1:c.4190C>T
  • NM_001407921.1:c.4190C>T
  • NM_001407922.1:c.4190C>T
  • NM_001407923.1:c.4190C>T
  • NM_001407924.1:c.4190C>T
  • NM_001407925.1:c.4190C>T
  • NM_001407926.1:c.4190C>T
  • NM_001407927.1:c.4187C>T
  • NM_001407928.1:c.4187C>T
  • NM_001407929.1:c.4187C>T
  • NM_001407930.1:c.4187C>T
  • NM_001407931.1:c.4187C>T
  • NM_001407932.1:c.4187C>T
  • NM_001407933.1:c.4187C>T
  • NM_001407934.1:c.4184C>T
  • NM_001407935.1:c.4184C>T
  • NM_001407936.1:c.4184C>T
  • NM_001407937.1:c.4331C>T
  • NM_001407938.1:c.4331C>T
  • NM_001407939.1:c.4328C>T
  • NM_001407940.1:c.4328C>T
  • NM_001407941.1:c.4325C>T
  • NM_001407942.1:c.4313C>T
  • NM_001407943.1:c.4310C>T
  • NM_001407944.1:c.4310C>T
  • NM_001407945.1:c.4310C>T
  • NM_001407946.1:c.4121C>T
  • NM_001407947.1:c.4121C>T
  • NM_001407948.1:c.4121C>T
  • NM_001407949.1:c.4121C>T
  • NM_001407950.1:c.4118C>T
  • NM_001407951.1:c.4118C>T
  • NM_001407952.1:c.4118C>T
  • NM_001407953.1:c.4118C>T
  • NM_001407954.1:c.4118C>T
  • NM_001407955.1:c.4118C>T
  • NM_001407956.1:c.4115C>T
  • NM_001407957.1:c.4115C>T
  • NM_001407958.1:c.4115C>T
  • NM_001407959.1:c.4073C>T
  • NM_001407960.1:c.4070C>T
  • NM_001407962.1:c.4070C>T
  • NM_001407963.1:c.4067C>T
  • NM_001407965.1:c.3947C>T
  • NM_001407966.1:c.3566C>T
  • NM_001407967.1:c.3563C>T
  • NM_001407968.1:c.1850C>T
  • NM_001407969.1:c.1847C>T
  • NM_001407970.1:c.1211C>T
  • NM_001407971.1:c.1211C>T
  • NM_001407972.1:c.1208C>T
  • NM_001407973.1:c.1145C>T
  • NM_001407974.1:c.1145C>T
  • NM_001407975.1:c.1145C>T
  • NM_001407976.1:c.1145C>T
  • NM_001407977.1:c.1145C>T
  • NM_001407978.1:c.1145C>T
  • NM_001407979.1:c.1142C>T
  • NM_001407980.1:c.1142C>T
  • NM_001407981.1:c.1142C>T
  • NM_001407982.1:c.1142C>T
  • NM_001407983.1:c.1142C>T
  • NM_001407984.1:c.1142C>T
  • NM_001407985.1:c.1142C>T
  • NM_001407986.1:c.1142C>T
  • NM_001407990.1:c.1142C>T
  • NM_001407991.1:c.1142C>T
  • NM_001407992.1:c.1142C>T
  • NM_001407993.1:c.1142C>T
  • NM_001408392.1:c.1139C>T
  • NM_001408396.1:c.1139C>T
  • NM_001408397.1:c.1139C>T
  • NM_001408398.1:c.1139C>T
  • NM_001408399.1:c.1139C>T
  • NM_001408400.1:c.1139C>T
  • NM_001408401.1:c.1139C>T
  • NM_001408402.1:c.1139C>T
  • NM_001408403.1:c.1139C>T
  • NM_001408404.1:c.1139C>T
  • NM_001408406.1:c.1136C>T
  • NM_001408407.1:c.1136C>T
  • NM_001408408.1:c.1136C>T
  • NM_001408409.1:c.1133C>T
  • NM_001408410.1:c.1070C>T
  • NM_001408411.1:c.1067C>T
  • NM_001408412.1:c.1064C>T
  • NM_001408413.1:c.1064C>T
  • NM_001408414.1:c.1064C>T
  • NM_001408415.1:c.1064C>T
  • NM_001408416.1:c.1064C>T
  • NM_001408418.1:c.1028C>T
  • NM_001408419.1:c.1028C>T
  • NM_001408420.1:c.1028C>T
  • NM_001408421.1:c.1025C>T
  • NM_001408422.1:c.1025C>T
  • NM_001408423.1:c.1025C>T
  • NM_001408424.1:c.1025C>T
  • NM_001408425.1:c.1022C>T
  • NM_001408426.1:c.1022C>T
  • NM_001408427.1:c.1022C>T
  • NM_001408428.1:c.1022C>T
  • NM_001408429.1:c.1022C>T
  • NM_001408430.1:c.1022C>T
  • NM_001408431.1:c.1022C>T
  • NM_001408432.1:c.1019C>T
  • NM_001408433.1:c.1019C>T
  • NM_001408434.1:c.1019C>T
  • NM_001408435.1:c.1019C>T
  • NM_001408436.1:c.1019C>T
  • NM_001408437.1:c.1019C>T
  • NM_001408438.1:c.1019C>T
  • NM_001408439.1:c.1019C>T
  • NM_001408440.1:c.1019C>T
  • NM_001408441.1:c.1019C>T
  • NM_001408442.1:c.1019C>T
  • NM_001408443.1:c.1019C>T
  • NM_001408444.1:c.1019C>T
  • NM_001408445.1:c.1016C>T
  • NM_001408446.1:c.1016C>T
  • NM_001408447.1:c.1016C>T
  • NM_001408448.1:c.1016C>T
  • NM_001408450.1:c.1016C>T
  • NM_001408451.1:c.1010C>T
  • NM_001408452.1:c.1004C>T
  • NM_001408453.1:c.1004C>T
  • NM_001408454.1:c.1004C>T
  • NM_001408455.1:c.1004C>T
  • NM_001408456.1:c.1004C>T
  • NM_001408457.1:c.1004C>T
  • NM_001408458.1:c.1001C>T
  • NM_001408459.1:c.1001C>T
  • NM_001408460.1:c.1001C>T
  • NM_001408461.1:c.1001C>T
  • NM_001408462.1:c.1001C>T
  • NM_001408463.1:c.1001C>T
  • NM_001408464.1:c.1001C>T
  • NM_001408465.1:c.1001C>T
  • NM_001408466.1:c.1001C>T
  • NM_001408467.1:c.1001C>T
  • NM_001408468.1:c.998C>T
  • NM_001408469.1:c.998C>T
  • NM_001408470.1:c.998C>T
  • NM_001408472.1:c.1142C>T
  • NM_001408473.1:c.1139C>T
  • NM_001408474.1:c.944C>T
  • NM_001408475.1:c.941C>T
  • NM_001408476.1:c.941C>T
  • NM_001408478.1:c.935C>T
  • NM_001408479.1:c.935C>T
  • NM_001408480.1:c.935C>T
  • NM_001408481.1:c.932C>T
  • NM_001408482.1:c.932C>T
  • NM_001408483.1:c.932C>T
  • NM_001408484.1:c.932C>T
  • NM_001408485.1:c.932C>T
  • NM_001408489.1:c.932C>T
  • NM_001408490.1:c.932C>T
  • NM_001408491.1:c.932C>T
  • NM_001408492.1:c.929C>T
  • NM_001408493.1:c.929C>T
  • NM_001408494.1:c.905C>T
  • NM_001408495.1:c.899C>T
  • NM_001408496.1:c.881C>T
  • NM_001408497.1:c.881C>T
  • NM_001408498.1:c.881C>T
  • NM_001408499.1:c.881C>T
  • NM_001408500.1:c.881C>T
  • NM_001408501.1:c.881C>T
  • NM_001408502.1:c.878C>T
  • NM_001408503.1:c.878C>T
  • NM_001408504.1:c.878C>T
  • NM_001408505.1:c.875C>T
  • NM_001408506.1:c.818C>T
  • NM_001408507.1:c.815C>T
  • NM_001408508.1:c.806C>T
  • NM_001408509.1:c.803C>T
  • NM_001408510.1:c.764C>T
  • NM_001408511.1:c.761C>T
  • NM_001408512.1:c.641C>T
  • NM_007294.4:c.4454C>TMANE SELECT
  • NM_007297.4:c.4313C>T
  • NM_007298.4:c.1142C>T
  • NM_007299.4:c.1142C>T
  • NM_007300.4:c.4517C>T
  • NM_007304.2:c.1142C>T
  • NP_001394500.1:p.Thr1414Ile
  • NP_001394510.1:p.Thr1507Ile
  • NP_001394511.1:p.Thr1507Ile
  • NP_001394512.1:p.Thr1506Ile
  • NP_001394514.1:p.Thr1506Ile
  • NP_001394516.1:p.Thr1506Ile
  • NP_001394519.1:p.Thr1505Ile
  • NP_001394520.1:p.Thr1505Ile
  • NP_001394522.1:p.Thr1485Ile
  • NP_001394523.1:p.Thr1485Ile
  • NP_001394525.1:p.Thr1485Ile
  • NP_001394526.1:p.Thr1485Ile
  • NP_001394527.1:p.Thr1485Ile
  • NP_001394531.1:p.Thr1485Ile
  • NP_001394532.1:p.Thr1485Ile
  • NP_001394534.1:p.Thr1485Ile
  • NP_001394539.1:p.Thr1484Ile
  • NP_001394540.1:p.Thr1484Ile
  • NP_001394541.1:p.Thr1484Ile
  • NP_001394542.1:p.Thr1484Ile
  • NP_001394543.1:p.Thr1484Ile
  • NP_001394544.1:p.Thr1484Ile
  • NP_001394545.1:p.Thr1484Ile
  • NP_001394546.1:p.Thr1484Ile
  • NP_001394547.1:p.Thr1484Ile
  • NP_001394548.1:p.Thr1484Ile
  • NP_001394549.1:p.Thr1484Ile
  • NP_001394550.1:p.Thr1484Ile
  • NP_001394551.1:p.Thr1484Ile
  • NP_001394552.1:p.Thr1484Ile
  • NP_001394553.1:p.Thr1484Ile
  • NP_001394554.1:p.Thr1484Ile
  • NP_001394555.1:p.Thr1484Ile
  • NP_001394556.1:p.Thr1483Ile
  • NP_001394557.1:p.Thr1483Ile
  • NP_001394558.1:p.Thr1483Ile
  • NP_001394559.1:p.Thr1483Ile
  • NP_001394560.1:p.Thr1483Ile
  • NP_001394561.1:p.Thr1483Ile
  • NP_001394562.1:p.Thr1483Ile
  • NP_001394563.1:p.Thr1483Ile
  • NP_001394564.1:p.Thr1483Ile
  • NP_001394565.1:p.Thr1483Ile
  • NP_001394566.1:p.Thr1483Ile
  • NP_001394567.1:p.Thr1483Ile
  • NP_001394568.1:p.Thr1483Ile
  • NP_001394569.1:p.Thr1483Ile
  • NP_001394570.1:p.Thr1483Ile
  • NP_001394571.1:p.Thr1483Ile
  • NP_001394573.1:p.Thr1482Ile
  • NP_001394574.1:p.Thr1482Ile
  • NP_001394575.1:p.Thr1481Ile
  • NP_001394576.1:p.Thr1480Ile
  • NP_001394577.1:p.Thr1466Ile
  • NP_001394578.1:p.Thr1465Ile
  • NP_001394581.1:p.Thr1485Ile
  • NP_001394582.1:p.Thr1459Ile
  • NP_001394583.1:p.Thr1459Ile
  • NP_001394584.1:p.Thr1459Ile
  • NP_001394585.1:p.Thr1458Ile
  • NP_001394586.1:p.Thr1458Ile
  • NP_001394587.1:p.Thr1458Ile
  • NP_001394588.1:p.Thr1457Ile
  • NP_001394589.1:p.Thr1457Ile
  • NP_001394590.1:p.Thr1457Ile
  • NP_001394591.1:p.Thr1457Ile
  • NP_001394592.1:p.Thr1457Ile
  • NP_001394593.1:p.Thr1444Ile
  • NP_001394594.1:p.Thr1444Ile
  • NP_001394595.1:p.Thr1444Ile
  • NP_001394596.1:p.Thr1444Ile
  • NP_001394597.1:p.Thr1444Ile
  • NP_001394598.1:p.Thr1444Ile
  • NP_001394599.1:p.Thr1443Ile
  • NP_001394600.1:p.Thr1443Ile
  • NP_001394601.1:p.Thr1443Ile
  • NP_001394602.1:p.Thr1443Ile
  • NP_001394603.1:p.Thr1443Ile
  • NP_001394604.1:p.Thr1443Ile
  • NP_001394605.1:p.Thr1443Ile
  • NP_001394606.1:p.Thr1443Ile
  • NP_001394607.1:p.Thr1443Ile
  • NP_001394608.1:p.Thr1443Ile
  • NP_001394609.1:p.Thr1443Ile
  • NP_001394610.1:p.Thr1442Ile
  • NP_001394611.1:p.Thr1442Ile
  • NP_001394612.1:p.Thr1442Ile
  • NP_001394613.1:p.Thr1485Ile
  • NP_001394614.1:p.Thr1442Ile
  • NP_001394615.1:p.Thr1442Ile
  • NP_001394616.1:p.Thr1442Ile
  • NP_001394617.1:p.Thr1442Ile
  • NP_001394618.1:p.Thr1442Ile
  • NP_001394619.1:p.Thr1441Ile
  • NP_001394620.1:p.Thr1441Ile
  • NP_001394621.1:p.Thr1438Ile
  • NP_001394623.1:p.Thr1438Ile
  • NP_001394624.1:p.Thr1438Ile
  • NP_001394625.1:p.Thr1438Ile
  • NP_001394626.1:p.Thr1438Ile
  • NP_001394627.1:p.Thr1438Ile
  • NP_001394653.1:p.Thr1438Ile
  • NP_001394654.1:p.Thr1438Ile
  • NP_001394655.1:p.Thr1438Ile
  • NP_001394656.1:p.Thr1438Ile
  • NP_001394657.1:p.Thr1438Ile
  • NP_001394658.1:p.Thr1438Ile
  • NP_001394659.1:p.Thr1438Ile
  • NP_001394660.1:p.Thr1438Ile
  • NP_001394661.1:p.Thr1437Ile
  • NP_001394662.1:p.Thr1437Ile
  • NP_001394663.1:p.Thr1437Ile
  • NP_001394664.1:p.Thr1437Ile
  • NP_001394665.1:p.Thr1437Ile
  • NP_001394666.1:p.Thr1437Ile
  • NP_001394667.1:p.Thr1437Ile
  • NP_001394668.1:p.Thr1437Ile
  • NP_001394669.1:p.Thr1437Ile
  • NP_001394670.1:p.Thr1437Ile
  • NP_001394671.1:p.Thr1437Ile
  • NP_001394672.1:p.Thr1437Ile
  • NP_001394673.1:p.Thr1437Ile
  • NP_001394674.1:p.Thr1437Ile
  • NP_001394675.1:p.Thr1437Ile
  • NP_001394676.1:p.Thr1437Ile
  • NP_001394677.1:p.Thr1437Ile
  • NP_001394678.1:p.Thr1437Ile
  • NP_001394679.1:p.Thr1437Ile
  • NP_001394680.1:p.Thr1437Ile
  • NP_001394681.1:p.Thr1437Ile
  • NP_001394767.1:p.Thr1436Ile
  • NP_001394768.1:p.Thr1436Ile
  • NP_001394770.1:p.Thr1436Ile
  • NP_001394771.1:p.Thr1436Ile
  • NP_001394772.1:p.Thr1436Ile
  • NP_001394773.1:p.Thr1436Ile
  • NP_001394774.1:p.Thr1436Ile
  • NP_001394775.1:p.Thr1436Ile
  • NP_001394776.1:p.Thr1436Ile
  • NP_001394777.1:p.Thr1436Ile
  • NP_001394778.1:p.Thr1436Ile
  • NP_001394779.1:p.Thr1436Ile
  • NP_001394780.1:p.Thr1436Ile
  • NP_001394781.1:p.Thr1436Ile
  • NP_001394782.1:p.Thr1436Ile
  • NP_001394783.1:p.Thr1485Ile
  • NP_001394787.1:p.Thr1484Ile
  • NP_001394788.1:p.Thr1484Ile
  • NP_001394789.1:p.Thr1484Ile
  • NP_001394790.1:p.Thr1483Ile
  • NP_001394791.1:p.Thr1418Ile
  • NP_001394792.1:p.Thr1443Ile
  • NP_001394803.1:p.Thr1416Ile
  • NP_001394804.1:p.Thr1416Ile
  • NP_001394808.1:p.Thr1415Ile
  • NP_001394810.1:p.Thr1415Ile
  • NP_001394811.1:p.Thr1415Ile
  • NP_001394813.1:p.Thr1415Ile
  • NP_001394814.1:p.Thr1415Ile
  • NP_001394815.1:p.Thr1415Ile
  • NP_001394816.1:p.Thr1415Ile
  • NP_001394818.1:p.Thr1415Ile
  • NP_001394823.1:p.Thr1414Ile
  • NP_001394824.1:p.Thr1414Ile
  • NP_001394825.1:p.Thr1414Ile
  • NP_001394826.1:p.Thr1414Ile
  • NP_001394827.1:p.Thr1414Ile
  • NP_001394828.1:p.Thr1414Ile
  • NP_001394829.1:p.Thr1414Ile
  • NP_001394831.1:p.Thr1414Ile
  • NP_001394833.1:p.Thr1414Ile
  • NP_001394835.1:p.Thr1414Ile
  • NP_001394836.1:p.Thr1414Ile
  • NP_001394837.1:p.Thr1414Ile
  • NP_001394838.1:p.Thr1414Ile
  • NP_001394839.1:p.Thr1414Ile
  • NP_001394844.1:p.Thr1413Ile
  • NP_001394845.1:p.Thr1413Ile
  • NP_001394846.1:p.Thr1413Ile
  • NP_001394847.1:p.Thr1413Ile
  • NP_001394848.1:p.Thr1444Ile
  • NP_001394849.1:p.Thr1397Ile
  • NP_001394850.1:p.Thr1397Ile
  • NP_001394851.1:p.Thr1397Ile
  • NP_001394852.1:p.Thr1397Ile
  • NP_001394853.1:p.Thr1397Ile
  • NP_001394854.1:p.Thr1397Ile
  • NP_001394855.1:p.Thr1397Ile
  • NP_001394856.1:p.Thr1396Ile
  • NP_001394857.1:p.Thr1396Ile
  • NP_001394858.1:p.Thr1396Ile
  • NP_001394859.1:p.Thr1396Ile
  • NP_001394860.1:p.Thr1396Ile
  • NP_001394861.1:p.Thr1396Ile
  • NP_001394862.1:p.Thr1396Ile
  • NP_001394863.1:p.Thr1395Ile
  • NP_001394864.1:p.Thr1395Ile
  • NP_001394865.1:p.Thr1395Ile
  • NP_001394866.1:p.Thr1444Ile
  • NP_001394867.1:p.Thr1444Ile
  • NP_001394868.1:p.Thr1443Ile
  • NP_001394869.1:p.Thr1443Ile
  • NP_001394870.1:p.Thr1442Ile
  • NP_001394871.1:p.Thr1438Ile
  • NP_001394872.1:p.Thr1437Ile
  • NP_001394873.1:p.Thr1437Ile
  • NP_001394874.1:p.Thr1437Ile
  • NP_001394875.1:p.Thr1374Ile
  • NP_001394876.1:p.Thr1374Ile
  • NP_001394877.1:p.Thr1374Ile
  • NP_001394878.1:p.Thr1374Ile
  • NP_001394879.1:p.Thr1373Ile
  • NP_001394880.1:p.Thr1373Ile
  • NP_001394881.1:p.Thr1373Ile
  • NP_001394882.1:p.Thr1373Ile
  • NP_001394883.1:p.Thr1373Ile
  • NP_001394884.1:p.Thr1373Ile
  • NP_001394885.1:p.Thr1372Ile
  • NP_001394886.1:p.Thr1372Ile
  • NP_001394887.1:p.Thr1372Ile
  • NP_001394888.1:p.Thr1358Ile
  • NP_001394889.1:p.Thr1357Ile
  • NP_001394891.1:p.Thr1357Ile
  • NP_001394892.1:p.Thr1356Ile
  • NP_001394894.1:p.Thr1316Ile
  • NP_001394895.1:p.Thr1189Ile
  • NP_001394896.1:p.Thr1188Ile
  • NP_001394897.1:p.Thr617Ile
  • NP_001394898.1:p.Thr616Ile
  • NP_001394899.1:p.Thr404Ile
  • NP_001394900.1:p.Thr404Ile
  • NP_001394901.1:p.Thr403Ile
  • NP_001394902.1:p.Thr382Ile
  • NP_001394903.1:p.Thr382Ile
  • NP_001394904.1:p.Thr382Ile
  • NP_001394905.1:p.Thr382Ile
  • NP_001394906.1:p.Thr382Ile
  • NP_001394907.1:p.Thr382Ile
  • NP_001394908.1:p.Thr381Ile
  • NP_001394909.1:p.Thr381Ile
  • NP_001394910.1:p.Thr381Ile
  • NP_001394911.1:p.Thr381Ile
  • NP_001394912.1:p.Thr381Ile
  • NP_001394913.1:p.Thr381Ile
  • NP_001394914.1:p.Thr381Ile
  • NP_001394915.1:p.Thr381Ile
  • NP_001394919.1:p.Thr381Ile
  • NP_001394920.1:p.Thr381Ile
  • NP_001394921.1:p.Thr381Ile
  • NP_001394922.1:p.Thr381Ile
  • NP_001395321.1:p.Thr380Ile
  • NP_001395325.1:p.Thr380Ile
  • NP_001395326.1:p.Thr380Ile
  • NP_001395327.1:p.Thr380Ile
  • NP_001395328.1:p.Thr380Ile
  • NP_001395329.1:p.Thr380Ile
  • NP_001395330.1:p.Thr380Ile
  • NP_001395331.1:p.Thr380Ile
  • NP_001395332.1:p.Thr380Ile
  • NP_001395333.1:p.Thr380Ile
  • NP_001395335.1:p.Thr379Ile
  • NP_001395336.1:p.Thr379Ile
  • NP_001395337.1:p.Thr379Ile
  • NP_001395338.1:p.Thr378Ile
  • NP_001395339.1:p.Thr357Ile
  • NP_001395340.1:p.Thr356Ile
  • NP_001395341.1:p.Thr355Ile
  • NP_001395342.1:p.Thr355Ile
  • NP_001395343.1:p.Thr355Ile
  • NP_001395344.1:p.Thr355Ile
  • NP_001395345.1:p.Thr355Ile
  • NP_001395347.1:p.Thr343Ile
  • NP_001395348.1:p.Thr343Ile
  • NP_001395349.1:p.Thr343Ile
  • NP_001395350.1:p.Thr342Ile
  • NP_001395351.1:p.Thr342Ile
  • NP_001395352.1:p.Thr342Ile
  • NP_001395353.1:p.Thr342Ile
  • NP_001395354.1:p.Thr341Ile
  • NP_001395355.1:p.Thr341Ile
  • NP_001395356.1:p.Thr341Ile
  • NP_001395357.1:p.Thr341Ile
  • NP_001395358.1:p.Thr341Ile
  • NP_001395359.1:p.Thr341Ile
  • NP_001395360.1:p.Thr341Ile
  • NP_001395361.1:p.Thr340Ile
  • NP_001395362.1:p.Thr340Ile
  • NP_001395363.1:p.Thr340Ile
  • NP_001395364.1:p.Thr340Ile
  • NP_001395365.1:p.Thr340Ile
  • NP_001395366.1:p.Thr340Ile
  • NP_001395367.1:p.Thr340Ile
  • NP_001395368.1:p.Thr340Ile
  • NP_001395369.1:p.Thr340Ile
  • NP_001395370.1:p.Thr340Ile
  • NP_001395371.1:p.Thr340Ile
  • NP_001395372.1:p.Thr340Ile
  • NP_001395373.1:p.Thr340Ile
  • NP_001395374.1:p.Thr339Ile
  • NP_001395375.1:p.Thr339Ile
  • NP_001395376.1:p.Thr339Ile
  • NP_001395377.1:p.Thr339Ile
  • NP_001395379.1:p.Thr339Ile
  • NP_001395380.1:p.Thr337Ile
  • NP_001395381.1:p.Thr335Ile
  • NP_001395382.1:p.Thr335Ile
  • NP_001395383.1:p.Thr335Ile
  • NP_001395384.1:p.Thr335Ile
  • NP_001395385.1:p.Thr335Ile
  • NP_001395386.1:p.Thr335Ile
  • NP_001395387.1:p.Thr334Ile
  • NP_001395388.1:p.Thr334Ile
  • NP_001395389.1:p.Thr334Ile
  • NP_001395390.1:p.Thr334Ile
  • NP_001395391.1:p.Thr334Ile
  • NP_001395392.1:p.Thr334Ile
  • NP_001395393.1:p.Thr334Ile
  • NP_001395394.1:p.Thr334Ile
  • NP_001395395.1:p.Thr334Ile
  • NP_001395396.1:p.Thr334Ile
  • NP_001395397.1:p.Thr333Ile
  • NP_001395398.1:p.Thr333Ile
  • NP_001395399.1:p.Thr333Ile
  • NP_001395401.1:p.Thr381Ile
  • NP_001395402.1:p.Thr380Ile
  • NP_001395403.1:p.Thr315Ile
  • NP_001395404.1:p.Thr314Ile
  • NP_001395405.1:p.Thr314Ile
  • NP_001395407.1:p.Thr312Ile
  • NP_001395408.1:p.Thr312Ile
  • NP_001395409.1:p.Thr312Ile
  • NP_001395410.1:p.Thr311Ile
  • NP_001395411.1:p.Thr311Ile
  • NP_001395412.1:p.Thr311Ile
  • NP_001395413.1:p.Thr311Ile
  • NP_001395414.1:p.Thr311Ile
  • NP_001395418.1:p.Thr311Ile
  • NP_001395419.1:p.Thr311Ile
  • NP_001395420.1:p.Thr311Ile
  • NP_001395421.1:p.Thr310Ile
  • NP_001395422.1:p.Thr310Ile
  • NP_001395423.1:p.Thr302Ile
  • NP_001395424.1:p.Thr300Ile
  • NP_001395425.1:p.Thr294Ile
  • NP_001395426.1:p.Thr294Ile
  • NP_001395427.1:p.Thr294Ile
  • NP_001395428.1:p.Thr294Ile
  • NP_001395429.1:p.Thr294Ile
  • NP_001395430.1:p.Thr294Ile
  • NP_001395431.1:p.Thr293Ile
  • NP_001395432.1:p.Thr293Ile
  • NP_001395433.1:p.Thr293Ile
  • NP_001395434.1:p.Thr292Ile
  • NP_001395435.1:p.Thr273Ile
  • NP_001395436.1:p.Thr272Ile
  • NP_001395437.1:p.Thr269Ile
  • NP_001395438.1:p.Thr268Ile
  • NP_001395439.1:p.Thr255Ile
  • NP_001395440.1:p.Thr254Ile
  • NP_001395441.1:p.Thr214Ile
  • NP_009225.1:p.Thr1485Ile
  • NP_009225.1:p.Thr1485Ile
  • NP_009228.2:p.Thr1438Ile
  • NP_009229.2:p.Thr381Ile
  • NP_009229.2:p.Thr381Ile
  • NP_009230.2:p.Thr381Ile
  • NP_009231.2:p.Thr1506Ile
  • NP_009235.2:p.Thr381Ile
  • LRG_292t1:c.4454C>T
  • LRG_292:g.141466C>T
  • LRG_292p1:p.Thr1485Ile
  • NC_000017.10:g.41228535G>A
  • NM_007294.3:c.4454C>T
  • NM_007298.3:c.1142C>T
  • NR_027676.2:n.4631C>T
  • U14680.1:n.4573C>T
  • p.T1485I
Nucleotide change:
4573C>T
Protein change:
T1188I
Links:
dbSNP: rs80356870
NCBI 1000 Genomes Browser:
rs80356870
Molecular consequence:
  • NM_001407571.1:c.4241C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.4520C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.4520C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.4517C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.4517C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.4517C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.4514C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.4514C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.4454C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.4454C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.4454C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.4454C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.4454C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.4454C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.4454C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.4454C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.4451C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.4451C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.4451C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.4451C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.4451C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.4451C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.4451C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.4451C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.4451C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.4451C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.4451C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.4451C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.4451C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.4451C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.4451C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.4451C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.4451C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.4448C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.4448C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.4448C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.4448C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.4448C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.4448C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.4448C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.4448C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.4448C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.4448C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.4448C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.4448C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.4448C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.4448C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.4448C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.4448C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.4445C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.4445C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.4442C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.4439C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.4397C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.4394C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.4454C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.4376C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.4376C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.4376C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.4373C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.4373C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.4373C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.4370C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.4370C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.4370C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.4370C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.4370C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.4331C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.4331C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.4331C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.4331C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.4331C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.4331C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.4328C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.4328C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.4328C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.4328C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.4328C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.4328C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.4328C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.4328C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.4328C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.4328C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.4328C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.4325C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.4325C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.4325C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.4454C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.4325C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.4325C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.4325C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.4325C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.4325C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.4322C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.4322C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.4313C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.4313C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.4313C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.4313C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.4313C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.4313C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.4313C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.4313C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.4313C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.4313C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.4313C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.4313C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.4313C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.4313C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.4310C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.4310C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.4310C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.4310C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.4310C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.4310C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.4310C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.4310C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.4310C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.4310C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.4310C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.4310C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.4310C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.4310C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.4310C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.4310C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.4310C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.4310C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.4310C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.4310C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.4310C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.4307C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.4307C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.4307C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.4307C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.4307C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.4307C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.4307C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.4307C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.4307C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.4307C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.4307C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.4307C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.4307C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.4307C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.4307C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.4454C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.4451C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.4451C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.4451C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.4448C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.4253C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.4328C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.4247C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.4247C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.4244C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.4244C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.4244C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.4244C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.4244C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.4244C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.4244C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.4244C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.4241C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.4241C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.4241C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.4241C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.4241C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.4241C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.4241C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.4241C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.4241C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.4241C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.4241C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.4241C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.4241C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.4241C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.4238C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.4238C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.4238C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.4238C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.4331C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.4190C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.4190C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.4190C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.4190C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.4190C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.4190C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.4190C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.4187C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.4187C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.4187C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.4187C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.4187C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.4187C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.4187C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.4184C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.4184C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.4184C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.4331C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.4331C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.4328C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.4328C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.4325C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.4313C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.4310C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.4310C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.4310C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.4121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.4121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.4121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.4121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.4118C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.4118C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.4118C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.4118C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.4118C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.4118C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.4115C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.4115C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.4115C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.4073C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.4070C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.4070C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.4067C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.3947C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.3566C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.3563C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.1850C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.1847C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407970.1:c.1211C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407971.1:c.1211C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407972.1:c.1208C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407973.1:c.1145C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407974.1:c.1145C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407975.1:c.1145C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407976.1:c.1145C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407977.1:c.1145C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407978.1:c.1145C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407979.1:c.1142C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407980.1:c.1142C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407981.1:c.1142C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407982.1:c.1142C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407983.1:c.1142C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407984.1:c.1142C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407985.1:c.1142C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407986.1:c.1142C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407990.1:c.1142C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407991.1:c.1142C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407992.1:c.1142C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407993.1:c.1142C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408392.1:c.1139C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408396.1:c.1139C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408397.1:c.1139C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408398.1:c.1139C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408399.1:c.1139C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408400.1:c.1139C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408401.1:c.1139C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408402.1:c.1139C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408403.1:c.1139C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408404.1:c.1139C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408406.1:c.1136C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408407.1:c.1136C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408408.1:c.1136C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408409.1:c.1133C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408410.1:c.1070C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408411.1:c.1067C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408412.1:c.1064C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408413.1:c.1064C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408414.1:c.1064C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408415.1:c.1064C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408416.1:c.1064C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408418.1:c.1028C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408419.1:c.1028C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408420.1:c.1028C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408421.1:c.1025C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408422.1:c.1025C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408423.1:c.1025C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408424.1:c.1025C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408425.1:c.1022C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408426.1:c.1022C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408427.1:c.1022C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408428.1:c.1022C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408429.1:c.1022C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408430.1:c.1022C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408431.1:c.1022C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408432.1:c.1019C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408433.1:c.1019C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408434.1:c.1019C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408435.1:c.1019C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408436.1:c.1019C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408437.1:c.1019C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408438.1:c.1019C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408439.1:c.1019C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408440.1:c.1019C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408441.1:c.1019C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408442.1:c.1019C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408443.1:c.1019C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408444.1:c.1019C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408445.1:c.1016C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408446.1:c.1016C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408447.1:c.1016C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408448.1:c.1016C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408450.1:c.1016C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408451.1:c.1010C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408452.1:c.1004C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408453.1:c.1004C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408454.1:c.1004C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408455.1:c.1004C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408456.1:c.1004C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408457.1:c.1004C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408458.1:c.1001C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408459.1:c.1001C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408460.1:c.1001C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408461.1:c.1001C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408462.1:c.1001C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408463.1:c.1001C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408464.1:c.1001C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408465.1:c.1001C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408466.1:c.1001C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408467.1:c.1001C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408468.1:c.998C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408469.1:c.998C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408470.1:c.998C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408472.1:c.1142C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408473.1:c.1139C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408474.1:c.944C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408475.1:c.941C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408476.1:c.941C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408478.1:c.935C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408479.1:c.935C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408480.1:c.935C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408481.1:c.932C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408482.1:c.932C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408483.1:c.932C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408484.1:c.932C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408485.1:c.932C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408489.1:c.932C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408490.1:c.932C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408491.1:c.932C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408492.1:c.929C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408493.1:c.929C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408494.1:c.905C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408495.1:c.899C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408496.1:c.881C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408497.1:c.881C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408498.1:c.881C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408499.1:c.881C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408500.1:c.881C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408501.1:c.881C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408502.1:c.878C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408503.1:c.878C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408504.1:c.878C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408505.1:c.875C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408506.1:c.818C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408507.1:c.815C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408508.1:c.806C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408509.1:c.803C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408510.1:c.764C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408511.1:c.761C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408512.1:c.641C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.4454C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.4313C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.4:c.1142C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007299.4:c.1142C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.4517C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007304.2:c.1142C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.4631C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000217999Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Likely benign
(Jun 12, 2020) 		germlineclinical testing

PubMed (7)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation.

Abkevich V, Zharkikh A, Deffenbaugh AM, Frank D, Chen Y, Shattuck D, Skolnick MH, Gutin A, Tavtigian SV.

J Med Genet. 2004 Jul;41(7):492-507.

PubMed [citation]
PMID:
15235020
PMCID:
PMC1735826

Effect of BRCA1 on epidermal growth factor receptor in ovarian cancer.

Li D, Bi FF, Cao JM, Cao C, Li CY, Yang Q.

J Exp Clin Cancer Res. 2013 Dec 9;32:102. doi: 10.1186/1756-9966-32-102.

PubMed [citation]
PMID:
24321281
PMCID:
PMC4029425
See all PubMed Citations (7)

Details of each submission

From Ambry Genetics, SCV000217999.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (7)

Description

This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Apr 15, 2024