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NM_007294.4(BRCA1):c.4046C>G (p.Thr1349Arg) AND not provided

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Sep 17, 2020
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001284396.11

Allele description [Variation Report for NM_007294.4(BRCA1):c.4046C>G (p.Thr1349Arg)]

NM_007294.4(BRCA1):c.4046C>G (p.Thr1349Arg)

Genes:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
LOC126862571:BRD4-independent group 4 enhancer GRCh37_chr17:41243136-41244335 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.4046C>G (p.Thr1349Arg)
HGVS:
  • NC_000017.11:g.43091485G>C
  • NG_005905.2:g.126499C>G
  • NG_087068.1:g.467G>C
  • NM_001407571.1:c.3833C>G
  • NM_001407581.1:c.4046C>G
  • NM_001407582.1:c.4046C>G
  • NM_001407583.1:c.4046C>G
  • NM_001407585.1:c.4046C>G
  • NM_001407587.1:c.4043C>G
  • NM_001407590.1:c.4043C>G
  • NM_001407591.1:c.4043C>G
  • NM_001407593.1:c.4046C>G
  • NM_001407594.1:c.4046C>G
  • NM_001407596.1:c.4046C>G
  • NM_001407597.1:c.4046C>G
  • NM_001407598.1:c.4046C>G
  • NM_001407602.1:c.4046C>G
  • NM_001407603.1:c.4046C>G
  • NM_001407605.1:c.4046C>G
  • NM_001407610.1:c.4043C>G
  • NM_001407611.1:c.4043C>G
  • NM_001407612.1:c.4043C>G
  • NM_001407613.1:c.4043C>G
  • NM_001407614.1:c.4043C>G
  • NM_001407615.1:c.4043C>G
  • NM_001407616.1:c.4046C>G
  • NM_001407617.1:c.4046C>G
  • NM_001407618.1:c.4046C>G
  • NM_001407619.1:c.4046C>G
  • NM_001407620.1:c.4046C>G
  • NM_001407621.1:c.4046C>G
  • NM_001407622.1:c.4046C>G
  • NM_001407623.1:c.4046C>G
  • NM_001407624.1:c.4046C>G
  • NM_001407625.1:c.4046C>G
  • NM_001407626.1:c.4046C>G
  • NM_001407627.1:c.4043C>G
  • NM_001407628.1:c.4043C>G
  • NM_001407629.1:c.4043C>G
  • NM_001407630.1:c.4043C>G
  • NM_001407631.1:c.4043C>G
  • NM_001407632.1:c.4043C>G
  • NM_001407633.1:c.4043C>G
  • NM_001407634.1:c.4043C>G
  • NM_001407635.1:c.4043C>G
  • NM_001407636.1:c.4043C>G
  • NM_001407637.1:c.4043C>G
  • NM_001407638.1:c.4043C>G
  • NM_001407639.1:c.4046C>G
  • NM_001407640.1:c.4046C>G
  • NM_001407641.1:c.4046C>G
  • NM_001407642.1:c.4046C>G
  • NM_001407644.1:c.4043C>G
  • NM_001407645.1:c.4043C>G
  • NM_001407646.1:c.4037C>G
  • NM_001407647.1:c.4037C>G
  • NM_001407648.1:c.3923C>G
  • NM_001407649.1:c.3920C>G
  • NM_001407652.1:c.4046C>G
  • NM_001407653.1:c.3968C>G
  • NM_001407654.1:c.3968C>G
  • NM_001407655.1:c.3968C>G
  • NM_001407656.1:c.3968C>G
  • NM_001407657.1:c.3968C>G
  • NM_001407658.1:c.3968C>G
  • NM_001407659.1:c.3965C>G
  • NM_001407660.1:c.3965C>G
  • NM_001407661.1:c.3965C>G
  • NM_001407662.1:c.3965C>G
  • NM_001407663.1:c.3968C>G
  • NM_001407664.1:c.3923C>G
  • NM_001407665.1:c.3923C>G
  • NM_001407666.1:c.3923C>G
  • NM_001407667.1:c.3923C>G
  • NM_001407668.1:c.3923C>G
  • NM_001407669.1:c.3923C>G
  • NM_001407670.1:c.3920C>G
  • NM_001407671.1:c.3920C>G
  • NM_001407672.1:c.3920C>G
  • NM_001407673.1:c.3920C>G
  • NM_001407674.1:c.3923C>G
  • NM_001407675.1:c.3923C>G
  • NM_001407676.1:c.3923C>G
  • NM_001407677.1:c.3923C>G
  • NM_001407678.1:c.3923C>G
  • NM_001407679.1:c.3923C>G
  • NM_001407680.1:c.3923C>G
  • NM_001407681.1:c.3923C>G
  • NM_001407682.1:c.3923C>G
  • NM_001407683.1:c.3923C>G
  • NM_001407684.1:c.4046C>G
  • NM_001407685.1:c.3920C>G
  • NM_001407686.1:c.3920C>G
  • NM_001407687.1:c.3920C>G
  • NM_001407688.1:c.3920C>G
  • NM_001407689.1:c.3920C>G
  • NM_001407690.1:c.3920C>G
  • NM_001407691.1:c.3920C>G
  • NM_001407692.1:c.3905C>G
  • NM_001407694.1:c.3905C>G
  • NM_001407695.1:c.3905C>G
  • NM_001407696.1:c.3905C>G
  • NM_001407697.1:c.3905C>G
  • NM_001407698.1:c.3905C>G
  • NM_001407724.1:c.3905C>G
  • NM_001407725.1:c.3905C>G
  • NM_001407726.1:c.3905C>G
  • NM_001407727.1:c.3905C>G
  • NM_001407728.1:c.3905C>G
  • NM_001407729.1:c.3905C>G
  • NM_001407730.1:c.3905C>G
  • NM_001407731.1:c.3905C>G
  • NM_001407732.1:c.3905C>G
  • NM_001407733.1:c.3905C>G
  • NM_001407734.1:c.3905C>G
  • NM_001407735.1:c.3905C>G
  • NM_001407736.1:c.3905C>G
  • NM_001407737.1:c.3905C>G
  • NM_001407738.1:c.3905C>G
  • NM_001407739.1:c.3905C>G
  • NM_001407740.1:c.3902C>G
  • NM_001407741.1:c.3902C>G
  • NM_001407742.1:c.3902C>G
  • NM_001407743.1:c.3902C>G
  • NM_001407744.1:c.3902C>G
  • NM_001407745.1:c.3902C>G
  • NM_001407746.1:c.3902C>G
  • NM_001407747.1:c.3902C>G
  • NM_001407748.1:c.3902C>G
  • NM_001407749.1:c.3902C>G
  • NM_001407750.1:c.3905C>G
  • NM_001407751.1:c.3905C>G
  • NM_001407752.1:c.3905C>G
  • NM_001407838.1:c.3902C>G
  • NM_001407839.1:c.3902C>G
  • NM_001407841.1:c.3902C>G
  • NM_001407842.1:c.3902C>G
  • NM_001407843.1:c.3902C>G
  • NM_001407844.1:c.3902C>G
  • NM_001407845.1:c.3902C>G
  • NM_001407846.1:c.3902C>G
  • NM_001407847.1:c.3902C>G
  • NM_001407848.1:c.3902C>G
  • NM_001407849.1:c.3902C>G
  • NM_001407850.1:c.3905C>G
  • NM_001407851.1:c.3905C>G
  • NM_001407852.1:c.3905C>G
  • NM_001407853.1:c.3833C>G
  • NM_001407854.1:c.4046C>G
  • NM_001407858.1:c.4046C>G
  • NM_001407859.1:c.4046C>G
  • NM_001407860.1:c.4043C>G
  • NM_001407861.1:c.4043C>G
  • NM_001407862.1:c.3845C>G
  • NM_001407863.1:c.3923C>G
  • NM_001407874.1:c.3842C>G
  • NM_001407875.1:c.3842C>G
  • NM_001407879.1:c.3836C>G
  • NM_001407881.1:c.3836C>G
  • NM_001407882.1:c.3836C>G
  • NM_001407884.1:c.3836C>G
  • NM_001407885.1:c.3836C>G
  • NM_001407886.1:c.3836C>G
  • NM_001407887.1:c.3836C>G
  • NM_001407889.1:c.3836C>G
  • NM_001407894.1:c.3833C>G
  • NM_001407895.1:c.3833C>G
  • NM_001407896.1:c.3833C>G
  • NM_001407897.1:c.3833C>G
  • NM_001407898.1:c.3833C>G
  • NM_001407899.1:c.3833C>G
  • NM_001407900.1:c.3836C>G
  • NM_001407902.1:c.3836C>G
  • NM_001407904.1:c.3836C>G
  • NM_001407906.1:c.3836C>G
  • NM_001407907.1:c.3836C>G
  • NM_001407908.1:c.3836C>G
  • NM_001407909.1:c.3836C>G
  • NM_001407910.1:c.3836C>G
  • NM_001407915.1:c.3833C>G
  • NM_001407916.1:c.3833C>G
  • NM_001407917.1:c.3833C>G
  • NM_001407918.1:c.3833C>G
  • NM_001407919.1:c.3923C>G
  • NM_001407920.1:c.3782C>G
  • NM_001407921.1:c.3782C>G
  • NM_001407922.1:c.3782C>G
  • NM_001407923.1:c.3782C>G
  • NM_001407924.1:c.3782C>G
  • NM_001407925.1:c.3782C>G
  • NM_001407926.1:c.3782C>G
  • NM_001407927.1:c.3782C>G
  • NM_001407928.1:c.3782C>G
  • NM_001407929.1:c.3782C>G
  • NM_001407930.1:c.3779C>G
  • NM_001407931.1:c.3779C>G
  • NM_001407932.1:c.3779C>G
  • NM_001407933.1:c.3782C>G
  • NM_001407934.1:c.3779C>G
  • NM_001407935.1:c.3782C>G
  • NM_001407936.1:c.3779C>G
  • NM_001407937.1:c.3923C>G
  • NM_001407938.1:c.3923C>G
  • NM_001407939.1:c.3923C>G
  • NM_001407940.1:c.3920C>G
  • NM_001407941.1:c.3920C>G
  • NM_001407942.1:c.3905C>G
  • NM_001407943.1:c.3902C>G
  • NM_001407944.1:c.3905C>G
  • NM_001407945.1:c.3905C>G
  • NM_001407946.1:c.3713C>G
  • NM_001407947.1:c.3713C>G
  • NM_001407948.1:c.3713C>G
  • NM_001407949.1:c.3713C>G
  • NM_001407950.1:c.3713C>G
  • NM_001407951.1:c.3713C>G
  • NM_001407952.1:c.3713C>G
  • NM_001407953.1:c.3713C>G
  • NM_001407954.1:c.3710C>G
  • NM_001407955.1:c.3710C>G
  • NM_001407956.1:c.3710C>G
  • NM_001407957.1:c.3713C>G
  • NM_001407958.1:c.3710C>G
  • NM_001407959.1:c.3665C>G
  • NM_001407960.1:c.3665C>G
  • NM_001407962.1:c.3662C>G
  • NM_001407963.1:c.3665C>G
  • NM_001407964.1:c.3902C>G
  • NM_001407965.1:c.3542C>G
  • NM_001407966.1:c.3158C>G
  • NM_001407967.1:c.3158C>G
  • NM_001407968.1:c.1442C>G
  • NM_001407969.1:c.1442C>G
  • NM_001407970.1:c.788-453C>G
  • NM_001407971.1:c.788-453C>G
  • NM_001407972.1:c.785-453C>G
  • NM_001407973.1:c.788-453C>G
  • NM_001407974.1:c.788-453C>G
  • NM_001407975.1:c.788-453C>G
  • NM_001407976.1:c.788-453C>G
  • NM_001407977.1:c.788-453C>G
  • NM_001407978.1:c.788-453C>G
  • NM_001407979.1:c.788-453C>G
  • NM_001407980.1:c.788-453C>G
  • NM_001407981.1:c.788-453C>G
  • NM_001407982.1:c.788-453C>G
  • NM_001407983.1:c.788-453C>G
  • NM_001407984.1:c.785-453C>G
  • NM_001407985.1:c.785-453C>G
  • NM_001407986.1:c.785-453C>G
  • NM_001407990.1:c.788-453C>G
  • NM_001407991.1:c.785-453C>G
  • NM_001407992.1:c.785-453C>G
  • NM_001407993.1:c.788-453C>G
  • NM_001408392.1:c.785-453C>G
  • NM_001408396.1:c.785-453C>G
  • NM_001408397.1:c.785-453C>G
  • NM_001408398.1:c.785-453C>G
  • NM_001408399.1:c.785-453C>G
  • NM_001408400.1:c.785-453C>G
  • NM_001408401.1:c.785-453C>G
  • NM_001408402.1:c.785-453C>G
  • NM_001408403.1:c.788-453C>G
  • NM_001408404.1:c.788-453C>G
  • NM_001408406.1:c.791-462C>G
  • NM_001408407.1:c.785-453C>G
  • NM_001408408.1:c.779-453C>G
  • NM_001408409.1:c.710-453C>G
  • NM_001408410.1:c.647-453C>G
  • NM_001408411.1:c.710-453C>G
  • NM_001408412.1:c.710-453C>G
  • NM_001408413.1:c.707-453C>G
  • NM_001408414.1:c.710-453C>G
  • NM_001408415.1:c.710-453C>G
  • NM_001408416.1:c.707-453C>G
  • NM_001408418.1:c.671-453C>G
  • NM_001408419.1:c.671-453C>G
  • NM_001408420.1:c.671-453C>G
  • NM_001408421.1:c.668-453C>G
  • NM_001408422.1:c.671-453C>G
  • NM_001408423.1:c.671-453C>G
  • NM_001408424.1:c.668-453C>G
  • NM_001408425.1:c.665-453C>G
  • NM_001408426.1:c.665-453C>G
  • NM_001408427.1:c.665-453C>G
  • NM_001408428.1:c.665-453C>G
  • NM_001408429.1:c.665-453C>G
  • NM_001408430.1:c.665-453C>G
  • NM_001408431.1:c.668-453C>G
  • NM_001408432.1:c.662-453C>G
  • NM_001408433.1:c.662-453C>G
  • NM_001408434.1:c.662-453C>G
  • NM_001408435.1:c.662-453C>G
  • NM_001408436.1:c.665-453C>G
  • NM_001408437.1:c.665-453C>G
  • NM_001408438.1:c.665-453C>G
  • NM_001408439.1:c.665-453C>G
  • NM_001408440.1:c.665-453C>G
  • NM_001408441.1:c.665-453C>G
  • NM_001408442.1:c.665-453C>G
  • NM_001408443.1:c.665-453C>G
  • NM_001408444.1:c.665-453C>G
  • NM_001408445.1:c.662-453C>G
  • NM_001408446.1:c.662-453C>G
  • NM_001408447.1:c.662-453C>G
  • NM_001408448.1:c.662-453C>G
  • NM_001408450.1:c.662-453C>G
  • NM_001408451.1:c.653-453C>G
  • NM_001408452.1:c.647-453C>G
  • NM_001408453.1:c.647-453C>G
  • NM_001408454.1:c.647-453C>G
  • NM_001408455.1:c.647-453C>G
  • NM_001408456.1:c.647-453C>G
  • NM_001408457.1:c.647-453C>G
  • NM_001408458.1:c.647-453C>G
  • NM_001408459.1:c.647-453C>G
  • NM_001408460.1:c.647-453C>G
  • NM_001408461.1:c.647-453C>G
  • NM_001408462.1:c.644-453C>G
  • NM_001408463.1:c.644-453C>G
  • NM_001408464.1:c.644-453C>G
  • NM_001408465.1:c.644-453C>G
  • NM_001408466.1:c.647-453C>G
  • NM_001408467.1:c.647-453C>G
  • NM_001408468.1:c.644-453C>G
  • NM_001408469.1:c.647-453C>G
  • NM_001408470.1:c.644-453C>G
  • NM_001408472.1:c.788-453C>G
  • NM_001408473.1:c.785-453C>G
  • NM_001408474.1:c.587-453C>G
  • NM_001408475.1:c.584-453C>G
  • NM_001408476.1:c.587-453C>G
  • NM_001408478.1:c.578-453C>G
  • NM_001408479.1:c.578-453C>G
  • NM_001408480.1:c.578-453C>G
  • NM_001408481.1:c.578-453C>G
  • NM_001408482.1:c.578-453C>G
  • NM_001408483.1:c.578-453C>G
  • NM_001408484.1:c.578-453C>G
  • NM_001408485.1:c.578-453C>G
  • NM_001408489.1:c.578-453C>G
  • NM_001408490.1:c.575-453C>G
  • NM_001408491.1:c.575-453C>G
  • NM_001408492.1:c.578-453C>G
  • NM_001408493.1:c.575-453C>G
  • NM_001408494.1:c.548-453C>G
  • NM_001408495.1:c.545-453C>G
  • NM_001408496.1:c.524-453C>G
  • NM_001408497.1:c.524-453C>G
  • NM_001408498.1:c.524-453C>G
  • NM_001408499.1:c.524-453C>G
  • NM_001408500.1:c.524-453C>G
  • NM_001408501.1:c.524-453C>G
  • NM_001408502.1:c.455-453C>G
  • NM_001408503.1:c.521-453C>G
  • NM_001408504.1:c.521-453C>G
  • NM_001408505.1:c.521-453C>G
  • NM_001408506.1:c.461-453C>G
  • NM_001408507.1:c.461-453C>G
  • NM_001408508.1:c.452-453C>G
  • NM_001408509.1:c.452-453C>G
  • NM_001408510.1:c.407-453C>G
  • NM_001408511.1:c.404-453C>G
  • NM_001408512.1:c.284-453C>G
  • NM_001408513.1:c.578-453C>G
  • NM_001408514.1:c.578-453C>G
  • NM_007294.4:c.4046C>GMANE SELECT
  • NM_007297.4:c.3905C>G
  • NM_007298.4:c.788-453C>G
  • NM_007299.4:c.788-453C>G
  • NM_007300.4:c.4046C>G
  • NP_001394500.1:p.Thr1278Arg
  • NP_001394510.1:p.Thr1349Arg
  • NP_001394511.1:p.Thr1349Arg
  • NP_001394512.1:p.Thr1349Arg
  • NP_001394514.1:p.Thr1349Arg
  • NP_001394516.1:p.Thr1348Arg
  • NP_001394519.1:p.Thr1348Arg
  • NP_001394520.1:p.Thr1348Arg
  • NP_001394522.1:p.Thr1349Arg
  • NP_001394523.1:p.Thr1349Arg
  • NP_001394525.1:p.Thr1349Arg
  • NP_001394526.1:p.Thr1349Arg
  • NP_001394527.1:p.Thr1349Arg
  • NP_001394531.1:p.Thr1349Arg
  • NP_001394532.1:p.Thr1349Arg
  • NP_001394534.1:p.Thr1349Arg
  • NP_001394539.1:p.Thr1348Arg
  • NP_001394540.1:p.Thr1348Arg
  • NP_001394541.1:p.Thr1348Arg
  • NP_001394542.1:p.Thr1348Arg
  • NP_001394543.1:p.Thr1348Arg
  • NP_001394544.1:p.Thr1348Arg
  • NP_001394545.1:p.Thr1349Arg
  • NP_001394546.1:p.Thr1349Arg
  • NP_001394547.1:p.Thr1349Arg
  • NP_001394548.1:p.Thr1349Arg
  • NP_001394549.1:p.Thr1349Arg
  • NP_001394550.1:p.Thr1349Arg
  • NP_001394551.1:p.Thr1349Arg
  • NP_001394552.1:p.Thr1349Arg
  • NP_001394553.1:p.Thr1349Arg
  • NP_001394554.1:p.Thr1349Arg
  • NP_001394555.1:p.Thr1349Arg
  • NP_001394556.1:p.Thr1348Arg
  • NP_001394557.1:p.Thr1348Arg
  • NP_001394558.1:p.Thr1348Arg
  • NP_001394559.1:p.Thr1348Arg
  • NP_001394560.1:p.Thr1348Arg
  • NP_001394561.1:p.Thr1348Arg
  • NP_001394562.1:p.Thr1348Arg
  • NP_001394563.1:p.Thr1348Arg
  • NP_001394564.1:p.Thr1348Arg
  • NP_001394565.1:p.Thr1348Arg
  • NP_001394566.1:p.Thr1348Arg
  • NP_001394567.1:p.Thr1348Arg
  • NP_001394568.1:p.Thr1349Arg
  • NP_001394569.1:p.Thr1349Arg
  • NP_001394570.1:p.Thr1349Arg
  • NP_001394571.1:p.Thr1349Arg
  • NP_001394573.1:p.Thr1348Arg
  • NP_001394574.1:p.Thr1348Arg
  • NP_001394575.1:p.Thr1346Arg
  • NP_001394576.1:p.Thr1346Arg
  • NP_001394577.1:p.Thr1308Arg
  • NP_001394578.1:p.Thr1307Arg
  • NP_001394581.1:p.Thr1349Arg
  • NP_001394582.1:p.Thr1323Arg
  • NP_001394583.1:p.Thr1323Arg
  • NP_001394584.1:p.Thr1323Arg
  • NP_001394585.1:p.Thr1323Arg
  • NP_001394586.1:p.Thr1323Arg
  • NP_001394587.1:p.Thr1323Arg
  • NP_001394588.1:p.Thr1322Arg
  • NP_001394589.1:p.Thr1322Arg
  • NP_001394590.1:p.Thr1322Arg
  • NP_001394591.1:p.Thr1322Arg
  • NP_001394592.1:p.Thr1323Arg
  • NP_001394593.1:p.Thr1308Arg
  • NP_001394594.1:p.Thr1308Arg
  • NP_001394595.1:p.Thr1308Arg
  • NP_001394596.1:p.Thr1308Arg
  • NP_001394597.1:p.Thr1308Arg
  • NP_001394598.1:p.Thr1308Arg
  • NP_001394599.1:p.Thr1307Arg
  • NP_001394600.1:p.Thr1307Arg
  • NP_001394601.1:p.Thr1307Arg
  • NP_001394602.1:p.Thr1307Arg
  • NP_001394603.1:p.Thr1308Arg
  • NP_001394604.1:p.Thr1308Arg
  • NP_001394605.1:p.Thr1308Arg
  • NP_001394606.1:p.Thr1308Arg
  • NP_001394607.1:p.Thr1308Arg
  • NP_001394608.1:p.Thr1308Arg
  • NP_001394609.1:p.Thr1308Arg
  • NP_001394610.1:p.Thr1308Arg
  • NP_001394611.1:p.Thr1308Arg
  • NP_001394612.1:p.Thr1308Arg
  • NP_001394613.1:p.Thr1349Arg
  • NP_001394614.1:p.Thr1307Arg
  • NP_001394615.1:p.Thr1307Arg
  • NP_001394616.1:p.Thr1307Arg
  • NP_001394617.1:p.Thr1307Arg
  • NP_001394618.1:p.Thr1307Arg
  • NP_001394619.1:p.Thr1307Arg
  • NP_001394620.1:p.Thr1307Arg
  • NP_001394621.1:p.Thr1302Arg
  • NP_001394623.1:p.Thr1302Arg
  • NP_001394624.1:p.Thr1302Arg
  • NP_001394625.1:p.Thr1302Arg
  • NP_001394626.1:p.Thr1302Arg
  • NP_001394627.1:p.Thr1302Arg
  • NP_001394653.1:p.Thr1302Arg
  • NP_001394654.1:p.Thr1302Arg
  • NP_001394655.1:p.Thr1302Arg
  • NP_001394656.1:p.Thr1302Arg
  • NP_001394657.1:p.Thr1302Arg
  • NP_001394658.1:p.Thr1302Arg
  • NP_001394659.1:p.Thr1302Arg
  • NP_001394660.1:p.Thr1302Arg
  • NP_001394661.1:p.Thr1302Arg
  • NP_001394662.1:p.Thr1302Arg
  • NP_001394663.1:p.Thr1302Arg
  • NP_001394664.1:p.Thr1302Arg
  • NP_001394665.1:p.Thr1302Arg
  • NP_001394666.1:p.Thr1302Arg
  • NP_001394667.1:p.Thr1302Arg
  • NP_001394668.1:p.Thr1302Arg
  • NP_001394669.1:p.Thr1301Arg
  • NP_001394670.1:p.Thr1301Arg
  • NP_001394671.1:p.Thr1301Arg
  • NP_001394672.1:p.Thr1301Arg
  • NP_001394673.1:p.Thr1301Arg
  • NP_001394674.1:p.Thr1301Arg
  • NP_001394675.1:p.Thr1301Arg
  • NP_001394676.1:p.Thr1301Arg
  • NP_001394677.1:p.Thr1301Arg
  • NP_001394678.1:p.Thr1301Arg
  • NP_001394679.1:p.Thr1302Arg
  • NP_001394680.1:p.Thr1302Arg
  • NP_001394681.1:p.Thr1302Arg
  • NP_001394767.1:p.Thr1301Arg
  • NP_001394768.1:p.Thr1301Arg
  • NP_001394770.1:p.Thr1301Arg
  • NP_001394771.1:p.Thr1301Arg
  • NP_001394772.1:p.Thr1301Arg
  • NP_001394773.1:p.Thr1301Arg
  • NP_001394774.1:p.Thr1301Arg
  • NP_001394775.1:p.Thr1301Arg
  • NP_001394776.1:p.Thr1301Arg
  • NP_001394777.1:p.Thr1301Arg
  • NP_001394778.1:p.Thr1301Arg
  • NP_001394779.1:p.Thr1302Arg
  • NP_001394780.1:p.Thr1302Arg
  • NP_001394781.1:p.Thr1302Arg
  • NP_001394782.1:p.Thr1278Arg
  • NP_001394783.1:p.Thr1349Arg
  • NP_001394787.1:p.Thr1349Arg
  • NP_001394788.1:p.Thr1349Arg
  • NP_001394789.1:p.Thr1348Arg
  • NP_001394790.1:p.Thr1348Arg
  • NP_001394791.1:p.Thr1282Arg
  • NP_001394792.1:p.Thr1308Arg
  • NP_001394803.1:p.Thr1281Arg
  • NP_001394804.1:p.Thr1281Arg
  • NP_001394808.1:p.Thr1279Arg
  • NP_001394810.1:p.Thr1279Arg
  • NP_001394811.1:p.Thr1279Arg
  • NP_001394813.1:p.Thr1279Arg
  • NP_001394814.1:p.Thr1279Arg
  • NP_001394815.1:p.Thr1279Arg
  • NP_001394816.1:p.Thr1279Arg
  • NP_001394818.1:p.Thr1279Arg
  • NP_001394823.1:p.Thr1278Arg
  • NP_001394824.1:p.Thr1278Arg
  • NP_001394825.1:p.Thr1278Arg
  • NP_001394826.1:p.Thr1278Arg
  • NP_001394827.1:p.Thr1278Arg
  • NP_001394828.1:p.Thr1278Arg
  • NP_001394829.1:p.Thr1279Arg
  • NP_001394831.1:p.Thr1279Arg
  • NP_001394833.1:p.Thr1279Arg
  • NP_001394835.1:p.Thr1279Arg
  • NP_001394836.1:p.Thr1279Arg
  • NP_001394837.1:p.Thr1279Arg
  • NP_001394838.1:p.Thr1279Arg
  • NP_001394839.1:p.Thr1279Arg
  • NP_001394844.1:p.Thr1278Arg
  • NP_001394845.1:p.Thr1278Arg
  • NP_001394846.1:p.Thr1278Arg
  • NP_001394847.1:p.Thr1278Arg
  • NP_001394848.1:p.Thr1308Arg
  • NP_001394849.1:p.Thr1261Arg
  • NP_001394850.1:p.Thr1261Arg
  • NP_001394851.1:p.Thr1261Arg
  • NP_001394852.1:p.Thr1261Arg
  • NP_001394853.1:p.Thr1261Arg
  • NP_001394854.1:p.Thr1261Arg
  • NP_001394855.1:p.Thr1261Arg
  • NP_001394856.1:p.Thr1261Arg
  • NP_001394857.1:p.Thr1261Arg
  • NP_001394858.1:p.Thr1261Arg
  • NP_001394859.1:p.Thr1260Arg
  • NP_001394860.1:p.Thr1260Arg
  • NP_001394861.1:p.Thr1260Arg
  • NP_001394862.1:p.Thr1261Arg
  • NP_001394863.1:p.Thr1260Arg
  • NP_001394864.1:p.Thr1261Arg
  • NP_001394865.1:p.Thr1260Arg
  • NP_001394866.1:p.Thr1308Arg
  • NP_001394867.1:p.Thr1308Arg
  • NP_001394868.1:p.Thr1308Arg
  • NP_001394869.1:p.Thr1307Arg
  • NP_001394870.1:p.Thr1307Arg
  • NP_001394871.1:p.Thr1302Arg
  • NP_001394872.1:p.Thr1301Arg
  • NP_001394873.1:p.Thr1302Arg
  • NP_001394874.1:p.Thr1302Arg
  • NP_001394875.1:p.Thr1238Arg
  • NP_001394876.1:p.Thr1238Arg
  • NP_001394877.1:p.Thr1238Arg
  • NP_001394878.1:p.Thr1238Arg
  • NP_001394879.1:p.Thr1238Arg
  • NP_001394880.1:p.Thr1238Arg
  • NP_001394881.1:p.Thr1238Arg
  • NP_001394882.1:p.Thr1238Arg
  • NP_001394883.1:p.Thr1237Arg
  • NP_001394884.1:p.Thr1237Arg
  • NP_001394885.1:p.Thr1237Arg
  • NP_001394886.1:p.Thr1238Arg
  • NP_001394887.1:p.Thr1237Arg
  • NP_001394888.1:p.Thr1222Arg
  • NP_001394889.1:p.Thr1222Arg
  • NP_001394891.1:p.Thr1221Arg
  • NP_001394892.1:p.Thr1222Arg
  • NP_001394893.1:p.Thr1301Arg
  • NP_001394894.1:p.Thr1181Arg
  • NP_001394895.1:p.Thr1053Arg
  • NP_001394896.1:p.Thr1053Arg
  • NP_001394897.1:p.Thr481Arg
  • NP_001394898.1:p.Thr481Arg
  • NP_009225.1:p.Thr1349Arg
  • NP_009225.1:p.Thr1349Arg
  • NP_009228.2:p.Thr1302Arg
  • NP_009231.2:p.Thr1349Arg
  • LRG_292t1:c.4046C>G
  • LRG_292:g.126499C>G
  • LRG_292p1:p.Thr1349Arg
  • NC_000017.10:g.41243502G>C
  • NM_007294.3:c.4046C>G
  • NR_027676.1:n.4182C>G
Protein change:
T1053R
Links:
dbSNP: rs80357345
NCBI 1000 Genomes Browser:
rs80357345
Molecular consequence:
  • NM_001407970.1:c.788-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.788-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.785-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.788-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.788-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.788-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.788-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.788-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.788-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.788-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.788-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.788-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.788-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.788-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.785-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.785-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.785-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.788-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.785-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.785-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.788-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.785-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.785-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.785-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.785-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.785-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.785-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.785-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.785-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.788-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.788-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.791-462C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.785-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.779-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.710-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.647-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.710-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.710-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.707-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.710-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.710-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.707-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.665-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.665-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.665-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.665-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.665-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.665-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.662-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.662-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.662-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.662-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.665-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.665-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.665-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.665-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.665-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.665-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.665-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.665-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.665-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.662-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.662-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.662-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.662-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.662-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.653-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.647-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.647-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.647-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.647-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.647-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.647-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.647-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.647-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.647-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.647-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.644-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.644-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.644-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.644-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.647-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.647-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.644-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.647-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.644-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.788-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.785-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.587-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.584-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.587-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.578-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.578-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.578-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.578-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.578-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.578-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.578-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.578-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.578-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.575-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.575-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.578-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.575-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.524-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.524-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.524-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.524-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.524-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.524-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.455-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.521-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.521-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.521-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.452-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.452-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.407-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.284-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.578-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.578-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.788-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.788-453C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.3833C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.4046C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.4046C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.4046C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.4046C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.4043C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.4043C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.4043C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.4046C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.4046C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.4046C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.4046C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.4046C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.4046C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.4046C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.4046C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.4043C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.4043C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.4043C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.4043C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.4043C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.4043C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.4046C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.4046C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.4046C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.4046C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.4046C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.4046C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.4046C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.4046C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.4046C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.4046C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.4046C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.4043C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.4043C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.4043C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.4043C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.4043C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.4043C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.4043C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.4043C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.4043C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.4043C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.4043C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.4043C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.4046C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.4046C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.4046C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.4046C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.4043C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.4043C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.4037C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.4037C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.3923C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.3920C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.4046C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.3968C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.3968C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.3968C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.3968C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.3968C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.3968C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.3965C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.3965C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.3965C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.3965C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.3968C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.3923C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.3923C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.3923C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.3923C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.3923C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.3923C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.3920C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.3920C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.3920C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.3920C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.3923C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.3923C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.3923C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.3923C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.3923C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.3923C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.3923C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.3923C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.3923C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.3923C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.4046C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.3920C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.3920C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.3920C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.3920C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.3920C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.3920C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.3920C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.3905C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.3905C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.3905C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.3905C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.3905C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.3905C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.3905C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.3905C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.3905C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.3905C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.3905C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.3905C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.3905C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.3905C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.3905C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.3905C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.3905C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.3905C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.3905C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.3905C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.3905C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.3905C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.3902C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.3902C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.3902C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.3902C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.3902C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.3902C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.3902C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.3902C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.3902C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.3902C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.3905C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.3905C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.3905C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.3902C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.3902C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.3902C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.3902C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.3902C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.3902C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.3902C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.3902C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.3902C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.3902C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.3902C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.3905C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.3905C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.3905C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.3833C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.4046C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.4046C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.4046C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.4043C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.4043C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.3845C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.3923C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.3842C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.3842C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.3836C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.3836C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.3836C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.3836C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.3836C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.3836C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.3836C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.3836C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.3833C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.3833C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.3833C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.3833C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.3833C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.3833C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.3836C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.3836C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.3836C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.3836C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.3836C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.3836C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.3836C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.3836C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.3833C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.3833C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.3833C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.3833C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.3923C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.3782C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.3782C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.3782C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.3782C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.3782C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.3782C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.3782C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.3782C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.3782C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.3782C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.3779C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.3779C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.3779C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.3782C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.3779C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.3782C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.3779C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.3923C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.3923C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.3923C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.3920C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.3920C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.3905C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.3902C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.3905C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.3905C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.3713C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.3713C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.3713C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.3713C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.3713C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.3713C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.3713C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.3713C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.3710C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.3710C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.3710C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.3713C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.3710C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.3665C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.3665C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.3662C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.3665C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.3902C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.3542C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.3158C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.3158C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.1442C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.1442C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.4046C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.3905C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.4046C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001470173Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Uncertain significance
(Dec 22, 2019) 		unknownclinical testing

PubMed (3)
[See all records that cite these PMIDs]

SCV001815343GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Sep 17, 2020) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

LOH analysis should not be used as a tool to assess whether UVs of BRCA1/2 are pathogenic or not.

Beristain E, Guerra I, Vidaurrazaga N, Burgos-Bretones J, Tejada MI.

Fam Cancer. 2010 Sep;9(3):289-90. doi: 10.1007/s10689-009-9318-9. No abstract available.

PubMed [citation]
PMID:
20054658

Differences in the frequency and distribution of BRCA1 and BRCA2 mutations in breast/ovarian cancer cases from the Basque country with respect to the Spanish population: implications for genetic counselling.

Beristain E, Martínez-Bouzas C, Guerra I, Viguera N, Moreno J, Ibañez E, Díez J, Rodríguez F, Mallabiabarrena G, Luján S, Gorostiaga J, De Pablo JL, Mendizabal JL, Tejada MI.

Breast Cancer Res Treat. 2007 Dec;106(2):255-62. Epub 2007 Jan 30.

PubMed [citation]
PMID:
17262179
See all PubMed Citations (3)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001470173.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From GeneDx, SCV001815343.1

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

Description

Not observed in large population cohorts (Lek 2016); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 19320659, 29937436, 17262179, 26913838, 23893897, 18273839, 20054658)

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

Last Updated: Sep 16, 2024