U.S. flag

An official website of the United States government

NM_007294.4(BRCA1):c.3691T>C (p.Phe1231Leu) AND not provided

Germline classification:
Likely benign (2 submissions)
Last evaluated:
Feb 6, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001281713.6

Allele description [Variation Report for NM_007294.4(BRCA1):c.3691T>C (p.Phe1231Leu)]

NM_007294.4(BRCA1):c.3691T>C (p.Phe1231Leu)

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.3691T>C (p.Phe1231Leu)
Other names:
p.F1231L:TTT>CTT
HGVS:
  • NC_000017.11:g.43091840A>G
  • NG_005905.2:g.126144T>C
  • NG_087068.1:g.822A>G
  • NM_001407571.1:c.3478T>C
  • NM_001407581.1:c.3691T>C
  • NM_001407582.1:c.3691T>C
  • NM_001407583.1:c.3691T>C
  • NM_001407585.1:c.3691T>C
  • NM_001407587.1:c.3688T>C
  • NM_001407590.1:c.3688T>C
  • NM_001407591.1:c.3688T>C
  • NM_001407593.1:c.3691T>C
  • NM_001407594.1:c.3691T>C
  • NM_001407596.1:c.3691T>C
  • NM_001407597.1:c.3691T>C
  • NM_001407598.1:c.3691T>C
  • NM_001407602.1:c.3691T>C
  • NM_001407603.1:c.3691T>C
  • NM_001407605.1:c.3691T>C
  • NM_001407610.1:c.3688T>C
  • NM_001407611.1:c.3688T>C
  • NM_001407612.1:c.3688T>C
  • NM_001407613.1:c.3688T>C
  • NM_001407614.1:c.3688T>C
  • NM_001407615.1:c.3688T>C
  • NM_001407616.1:c.3691T>C
  • NM_001407617.1:c.3691T>C
  • NM_001407618.1:c.3691T>C
  • NM_001407619.1:c.3691T>C
  • NM_001407620.1:c.3691T>C
  • NM_001407621.1:c.3691T>C
  • NM_001407622.1:c.3691T>C
  • NM_001407623.1:c.3691T>C
  • NM_001407624.1:c.3691T>C
  • NM_001407625.1:c.3691T>C
  • NM_001407626.1:c.3691T>C
  • NM_001407627.1:c.3688T>C
  • NM_001407628.1:c.3688T>C
  • NM_001407629.1:c.3688T>C
  • NM_001407630.1:c.3688T>C
  • NM_001407631.1:c.3688T>C
  • NM_001407632.1:c.3688T>C
  • NM_001407633.1:c.3688T>C
  • NM_001407634.1:c.3688T>C
  • NM_001407635.1:c.3688T>C
  • NM_001407636.1:c.3688T>C
  • NM_001407637.1:c.3688T>C
  • NM_001407638.1:c.3688T>C
  • NM_001407639.1:c.3691T>C
  • NM_001407640.1:c.3691T>C
  • NM_001407641.1:c.3691T>C
  • NM_001407642.1:c.3691T>C
  • NM_001407644.1:c.3688T>C
  • NM_001407645.1:c.3688T>C
  • NM_001407646.1:c.3682T>C
  • NM_001407647.1:c.3682T>C
  • NM_001407648.1:c.3568T>C
  • NM_001407649.1:c.3565T>C
  • NM_001407652.1:c.3691T>C
  • NM_001407653.1:c.3613T>C
  • NM_001407654.1:c.3613T>C
  • NM_001407655.1:c.3613T>C
  • NM_001407656.1:c.3613T>C
  • NM_001407657.1:c.3613T>C
  • NM_001407658.1:c.3613T>C
  • NM_001407659.1:c.3610T>C
  • NM_001407660.1:c.3610T>C
  • NM_001407661.1:c.3610T>C
  • NM_001407662.1:c.3610T>C
  • NM_001407663.1:c.3613T>C
  • NM_001407664.1:c.3568T>C
  • NM_001407665.1:c.3568T>C
  • NM_001407666.1:c.3568T>C
  • NM_001407667.1:c.3568T>C
  • NM_001407668.1:c.3568T>C
  • NM_001407669.1:c.3568T>C
  • NM_001407670.1:c.3565T>C
  • NM_001407671.1:c.3565T>C
  • NM_001407672.1:c.3565T>C
  • NM_001407673.1:c.3565T>C
  • NM_001407674.1:c.3568T>C
  • NM_001407675.1:c.3568T>C
  • NM_001407676.1:c.3568T>C
  • NM_001407677.1:c.3568T>C
  • NM_001407678.1:c.3568T>C
  • NM_001407679.1:c.3568T>C
  • NM_001407680.1:c.3568T>C
  • NM_001407681.1:c.3568T>C
  • NM_001407682.1:c.3568T>C
  • NM_001407683.1:c.3568T>C
  • NM_001407684.1:c.3691T>C
  • NM_001407685.1:c.3565T>C
  • NM_001407686.1:c.3565T>C
  • NM_001407687.1:c.3565T>C
  • NM_001407688.1:c.3565T>C
  • NM_001407689.1:c.3565T>C
  • NM_001407690.1:c.3565T>C
  • NM_001407691.1:c.3565T>C
  • NM_001407692.1:c.3550T>C
  • NM_001407694.1:c.3550T>C
  • NM_001407695.1:c.3550T>C
  • NM_001407696.1:c.3550T>C
  • NM_001407697.1:c.3550T>C
  • NM_001407698.1:c.3550T>C
  • NM_001407724.1:c.3550T>C
  • NM_001407725.1:c.3550T>C
  • NM_001407726.1:c.3550T>C
  • NM_001407727.1:c.3550T>C
  • NM_001407728.1:c.3550T>C
  • NM_001407729.1:c.3550T>C
  • NM_001407730.1:c.3550T>C
  • NM_001407731.1:c.3550T>C
  • NM_001407732.1:c.3550T>C
  • NM_001407733.1:c.3550T>C
  • NM_001407734.1:c.3550T>C
  • NM_001407735.1:c.3550T>C
  • NM_001407736.1:c.3550T>C
  • NM_001407737.1:c.3550T>C
  • NM_001407738.1:c.3550T>C
  • NM_001407739.1:c.3550T>C
  • NM_001407740.1:c.3547T>C
  • NM_001407741.1:c.3547T>C
  • NM_001407742.1:c.3547T>C
  • NM_001407743.1:c.3547T>C
  • NM_001407744.1:c.3547T>C
  • NM_001407745.1:c.3547T>C
  • NM_001407746.1:c.3547T>C
  • NM_001407747.1:c.3547T>C
  • NM_001407748.1:c.3547T>C
  • NM_001407749.1:c.3547T>C
  • NM_001407750.1:c.3550T>C
  • NM_001407751.1:c.3550T>C
  • NM_001407752.1:c.3550T>C
  • NM_001407838.1:c.3547T>C
  • NM_001407839.1:c.3547T>C
  • NM_001407841.1:c.3547T>C
  • NM_001407842.1:c.3547T>C
  • NM_001407843.1:c.3547T>C
  • NM_001407844.1:c.3547T>C
  • NM_001407845.1:c.3547T>C
  • NM_001407846.1:c.3547T>C
  • NM_001407847.1:c.3547T>C
  • NM_001407848.1:c.3547T>C
  • NM_001407849.1:c.3547T>C
  • NM_001407850.1:c.3550T>C
  • NM_001407851.1:c.3550T>C
  • NM_001407852.1:c.3550T>C
  • NM_001407853.1:c.3478T>C
  • NM_001407854.1:c.3691T>C
  • NM_001407858.1:c.3691T>C
  • NM_001407859.1:c.3691T>C
  • NM_001407860.1:c.3688T>C
  • NM_001407861.1:c.3688T>C
  • NM_001407862.1:c.3490T>C
  • NM_001407863.1:c.3568T>C
  • NM_001407874.1:c.3487T>C
  • NM_001407875.1:c.3487T>C
  • NM_001407879.1:c.3481T>C
  • NM_001407881.1:c.3481T>C
  • NM_001407882.1:c.3481T>C
  • NM_001407884.1:c.3481T>C
  • NM_001407885.1:c.3481T>C
  • NM_001407886.1:c.3481T>C
  • NM_001407887.1:c.3481T>C
  • NM_001407889.1:c.3481T>C
  • NM_001407894.1:c.3478T>C
  • NM_001407895.1:c.3478T>C
  • NM_001407896.1:c.3478T>C
  • NM_001407897.1:c.3478T>C
  • NM_001407898.1:c.3478T>C
  • NM_001407899.1:c.3478T>C
  • NM_001407900.1:c.3481T>C
  • NM_001407902.1:c.3481T>C
  • NM_001407904.1:c.3481T>C
  • NM_001407906.1:c.3481T>C
  • NM_001407907.1:c.3481T>C
  • NM_001407908.1:c.3481T>C
  • NM_001407909.1:c.3481T>C
  • NM_001407910.1:c.3481T>C
  • NM_001407915.1:c.3478T>C
  • NM_001407916.1:c.3478T>C
  • NM_001407917.1:c.3478T>C
  • NM_001407918.1:c.3478T>C
  • NM_001407919.1:c.3568T>C
  • NM_001407920.1:c.3427T>C
  • NM_001407921.1:c.3427T>C
  • NM_001407922.1:c.3427T>C
  • NM_001407923.1:c.3427T>C
  • NM_001407924.1:c.3427T>C
  • NM_001407925.1:c.3427T>C
  • NM_001407926.1:c.3427T>C
  • NM_001407927.1:c.3427T>C
  • NM_001407928.1:c.3427T>C
  • NM_001407929.1:c.3427T>C
  • NM_001407930.1:c.3424T>C
  • NM_001407931.1:c.3424T>C
  • NM_001407932.1:c.3424T>C
  • NM_001407933.1:c.3427T>C
  • NM_001407934.1:c.3424T>C
  • NM_001407935.1:c.3427T>C
  • NM_001407936.1:c.3424T>C
  • NM_001407937.1:c.3568T>C
  • NM_001407938.1:c.3568T>C
  • NM_001407939.1:c.3568T>C
  • NM_001407940.1:c.3565T>C
  • NM_001407941.1:c.3565T>C
  • NM_001407942.1:c.3550T>C
  • NM_001407943.1:c.3547T>C
  • NM_001407944.1:c.3550T>C
  • NM_001407945.1:c.3550T>C
  • NM_001407946.1:c.3358T>C
  • NM_001407947.1:c.3358T>C
  • NM_001407948.1:c.3358T>C
  • NM_001407949.1:c.3358T>C
  • NM_001407950.1:c.3358T>C
  • NM_001407951.1:c.3358T>C
  • NM_001407952.1:c.3358T>C
  • NM_001407953.1:c.3358T>C
  • NM_001407954.1:c.3355T>C
  • NM_001407955.1:c.3355T>C
  • NM_001407956.1:c.3355T>C
  • NM_001407957.1:c.3358T>C
  • NM_001407958.1:c.3355T>C
  • NM_001407959.1:c.3310T>C
  • NM_001407960.1:c.3310T>C
  • NM_001407962.1:c.3307T>C
  • NM_001407963.1:c.3310T>C
  • NM_001407964.1:c.3547T>C
  • NM_001407965.1:c.3187T>C
  • NM_001407966.1:c.2803T>C
  • NM_001407967.1:c.2803T>C
  • NM_001407968.1:c.1087T>C
  • NM_001407969.1:c.1087T>C
  • NM_001407970.1:c.788-808T>C
  • NM_001407971.1:c.788-808T>C
  • NM_001407972.1:c.785-808T>C
  • NM_001407973.1:c.788-808T>C
  • NM_001407974.1:c.788-808T>C
  • NM_001407975.1:c.788-808T>C
  • NM_001407976.1:c.788-808T>C
  • NM_001407977.1:c.788-808T>C
  • NM_001407978.1:c.788-808T>C
  • NM_001407979.1:c.788-808T>C
  • NM_001407980.1:c.788-808T>C
  • NM_001407981.1:c.788-808T>C
  • NM_001407982.1:c.788-808T>C
  • NM_001407983.1:c.788-808T>C
  • NM_001407984.1:c.785-808T>C
  • NM_001407985.1:c.785-808T>C
  • NM_001407986.1:c.785-808T>C
  • NM_001407990.1:c.788-808T>C
  • NM_001407991.1:c.785-808T>C
  • NM_001407992.1:c.785-808T>C
  • NM_001407993.1:c.788-808T>C
  • NM_001408392.1:c.785-808T>C
  • NM_001408396.1:c.785-808T>C
  • NM_001408397.1:c.785-808T>C
  • NM_001408398.1:c.785-808T>C
  • NM_001408399.1:c.785-808T>C
  • NM_001408400.1:c.785-808T>C
  • NM_001408401.1:c.785-808T>C
  • NM_001408402.1:c.785-808T>C
  • NM_001408403.1:c.788-808T>C
  • NM_001408404.1:c.788-808T>C
  • NM_001408406.1:c.791-817T>C
  • NM_001408407.1:c.785-808T>C
  • NM_001408408.1:c.779-808T>C
  • NM_001408409.1:c.710-808T>C
  • NM_001408410.1:c.647-808T>C
  • NM_001408411.1:c.710-808T>C
  • NM_001408412.1:c.710-808T>C
  • NM_001408413.1:c.707-808T>C
  • NM_001408414.1:c.710-808T>C
  • NM_001408415.1:c.710-808T>C
  • NM_001408416.1:c.707-808T>C
  • NM_001408418.1:c.671-808T>C
  • NM_001408419.1:c.671-808T>C
  • NM_001408420.1:c.671-808T>C
  • NM_001408421.1:c.668-808T>C
  • NM_001408422.1:c.671-808T>C
  • NM_001408423.1:c.671-808T>C
  • NM_001408424.1:c.668-808T>C
  • NM_001408425.1:c.665-808T>C
  • NM_001408426.1:c.665-808T>C
  • NM_001408427.1:c.665-808T>C
  • NM_001408428.1:c.665-808T>C
  • NM_001408429.1:c.665-808T>C
  • NM_001408430.1:c.665-808T>C
  • NM_001408431.1:c.668-808T>C
  • NM_001408432.1:c.662-808T>C
  • NM_001408433.1:c.662-808T>C
  • NM_001408434.1:c.662-808T>C
  • NM_001408435.1:c.662-808T>C
  • NM_001408436.1:c.665-808T>C
  • NM_001408437.1:c.665-808T>C
  • NM_001408438.1:c.665-808T>C
  • NM_001408439.1:c.665-808T>C
  • NM_001408440.1:c.665-808T>C
  • NM_001408441.1:c.665-808T>C
  • NM_001408442.1:c.665-808T>C
  • NM_001408443.1:c.665-808T>C
  • NM_001408444.1:c.665-808T>C
  • NM_001408445.1:c.662-808T>C
  • NM_001408446.1:c.662-808T>C
  • NM_001408447.1:c.662-808T>C
  • NM_001408448.1:c.662-808T>C
  • NM_001408450.1:c.662-808T>C
  • NM_001408451.1:c.653-808T>C
  • NM_001408452.1:c.647-808T>C
  • NM_001408453.1:c.647-808T>C
  • NM_001408454.1:c.647-808T>C
  • NM_001408455.1:c.647-808T>C
  • NM_001408456.1:c.647-808T>C
  • NM_001408457.1:c.647-808T>C
  • NM_001408458.1:c.647-808T>C
  • NM_001408459.1:c.647-808T>C
  • NM_001408460.1:c.647-808T>C
  • NM_001408461.1:c.647-808T>C
  • NM_001408462.1:c.644-808T>C
  • NM_001408463.1:c.644-808T>C
  • NM_001408464.1:c.644-808T>C
  • NM_001408465.1:c.644-808T>C
  • NM_001408466.1:c.647-808T>C
  • NM_001408467.1:c.647-808T>C
  • NM_001408468.1:c.644-808T>C
  • NM_001408469.1:c.647-808T>C
  • NM_001408470.1:c.644-808T>C
  • NM_001408472.1:c.788-808T>C
  • NM_001408473.1:c.785-808T>C
  • NM_001408474.1:c.587-808T>C
  • NM_001408475.1:c.584-808T>C
  • NM_001408476.1:c.587-808T>C
  • NM_001408478.1:c.578-808T>C
  • NM_001408479.1:c.578-808T>C
  • NM_001408480.1:c.578-808T>C
  • NM_001408481.1:c.578-808T>C
  • NM_001408482.1:c.578-808T>C
  • NM_001408483.1:c.578-808T>C
  • NM_001408484.1:c.578-808T>C
  • NM_001408485.1:c.578-808T>C
  • NM_001408489.1:c.578-808T>C
  • NM_001408490.1:c.575-808T>C
  • NM_001408491.1:c.575-808T>C
  • NM_001408492.1:c.578-808T>C
  • NM_001408493.1:c.575-808T>C
  • NM_001408494.1:c.548-808T>C
  • NM_001408495.1:c.545-808T>C
  • NM_001408496.1:c.524-808T>C
  • NM_001408497.1:c.524-808T>C
  • NM_001408498.1:c.524-808T>C
  • NM_001408499.1:c.524-808T>C
  • NM_001408500.1:c.524-808T>C
  • NM_001408501.1:c.524-808T>C
  • NM_001408502.1:c.455-808T>C
  • NM_001408503.1:c.521-808T>C
  • NM_001408504.1:c.521-808T>C
  • NM_001408505.1:c.521-808T>C
  • NM_001408506.1:c.461-808T>C
  • NM_001408507.1:c.461-808T>C
  • NM_001408508.1:c.452-808T>C
  • NM_001408509.1:c.452-808T>C
  • NM_001408510.1:c.407-808T>C
  • NM_001408511.1:c.404-808T>C
  • NM_001408512.1:c.284-808T>C
  • NM_001408513.1:c.578-808T>C
  • NM_001408514.1:c.578-808T>C
  • NM_007294.4:c.3691T>CMANE SELECT
  • NM_007297.4:c.3550T>C
  • NM_007298.4:c.788-808T>C
  • NM_007299.4:c.788-808T>C
  • NM_007300.4:c.3691T>C
  • NP_001394500.1:p.Phe1160Leu
  • NP_001394510.1:p.Phe1231Leu
  • NP_001394511.1:p.Phe1231Leu
  • NP_001394512.1:p.Phe1231Leu
  • NP_001394514.1:p.Phe1231Leu
  • NP_001394516.1:p.Phe1230Leu
  • NP_001394519.1:p.Phe1230Leu
  • NP_001394520.1:p.Phe1230Leu
  • NP_001394522.1:p.Phe1231Leu
  • NP_001394523.1:p.Phe1231Leu
  • NP_001394525.1:p.Phe1231Leu
  • NP_001394526.1:p.Phe1231Leu
  • NP_001394527.1:p.Phe1231Leu
  • NP_001394531.1:p.Phe1231Leu
  • NP_001394532.1:p.Phe1231Leu
  • NP_001394534.1:p.Phe1231Leu
  • NP_001394539.1:p.Phe1230Leu
  • NP_001394540.1:p.Phe1230Leu
  • NP_001394541.1:p.Phe1230Leu
  • NP_001394542.1:p.Phe1230Leu
  • NP_001394543.1:p.Phe1230Leu
  • NP_001394544.1:p.Phe1230Leu
  • NP_001394545.1:p.Phe1231Leu
  • NP_001394546.1:p.Phe1231Leu
  • NP_001394547.1:p.Phe1231Leu
  • NP_001394548.1:p.Phe1231Leu
  • NP_001394549.1:p.Phe1231Leu
  • NP_001394550.1:p.Phe1231Leu
  • NP_001394551.1:p.Phe1231Leu
  • NP_001394552.1:p.Phe1231Leu
  • NP_001394553.1:p.Phe1231Leu
  • NP_001394554.1:p.Phe1231Leu
  • NP_001394555.1:p.Phe1231Leu
  • NP_001394556.1:p.Phe1230Leu
  • NP_001394557.1:p.Phe1230Leu
  • NP_001394558.1:p.Phe1230Leu
  • NP_001394559.1:p.Phe1230Leu
  • NP_001394560.1:p.Phe1230Leu
  • NP_001394561.1:p.Phe1230Leu
  • NP_001394562.1:p.Phe1230Leu
  • NP_001394563.1:p.Phe1230Leu
  • NP_001394564.1:p.Phe1230Leu
  • NP_001394565.1:p.Phe1230Leu
  • NP_001394566.1:p.Phe1230Leu
  • NP_001394567.1:p.Phe1230Leu
  • NP_001394568.1:p.Phe1231Leu
  • NP_001394569.1:p.Phe1231Leu
  • NP_001394570.1:p.Phe1231Leu
  • NP_001394571.1:p.Phe1231Leu
  • NP_001394573.1:p.Phe1230Leu
  • NP_001394574.1:p.Phe1230Leu
  • NP_001394575.1:p.Phe1228Leu
  • NP_001394576.1:p.Phe1228Leu
  • NP_001394577.1:p.Phe1190Leu
  • NP_001394578.1:p.Phe1189Leu
  • NP_001394581.1:p.Phe1231Leu
  • NP_001394582.1:p.Phe1205Leu
  • NP_001394583.1:p.Phe1205Leu
  • NP_001394584.1:p.Phe1205Leu
  • NP_001394585.1:p.Phe1205Leu
  • NP_001394586.1:p.Phe1205Leu
  • NP_001394587.1:p.Phe1205Leu
  • NP_001394588.1:p.Phe1204Leu
  • NP_001394589.1:p.Phe1204Leu
  • NP_001394590.1:p.Phe1204Leu
  • NP_001394591.1:p.Phe1204Leu
  • NP_001394592.1:p.Phe1205Leu
  • NP_001394593.1:p.Phe1190Leu
  • NP_001394594.1:p.Phe1190Leu
  • NP_001394595.1:p.Phe1190Leu
  • NP_001394596.1:p.Phe1190Leu
  • NP_001394597.1:p.Phe1190Leu
  • NP_001394598.1:p.Phe1190Leu
  • NP_001394599.1:p.Phe1189Leu
  • NP_001394600.1:p.Phe1189Leu
  • NP_001394601.1:p.Phe1189Leu
  • NP_001394602.1:p.Phe1189Leu
  • NP_001394603.1:p.Phe1190Leu
  • NP_001394604.1:p.Phe1190Leu
  • NP_001394605.1:p.Phe1190Leu
  • NP_001394606.1:p.Phe1190Leu
  • NP_001394607.1:p.Phe1190Leu
  • NP_001394608.1:p.Phe1190Leu
  • NP_001394609.1:p.Phe1190Leu
  • NP_001394610.1:p.Phe1190Leu
  • NP_001394611.1:p.Phe1190Leu
  • NP_001394612.1:p.Phe1190Leu
  • NP_001394613.1:p.Phe1231Leu
  • NP_001394614.1:p.Phe1189Leu
  • NP_001394615.1:p.Phe1189Leu
  • NP_001394616.1:p.Phe1189Leu
  • NP_001394617.1:p.Phe1189Leu
  • NP_001394618.1:p.Phe1189Leu
  • NP_001394619.1:p.Phe1189Leu
  • NP_001394620.1:p.Phe1189Leu
  • NP_001394621.1:p.Phe1184Leu
  • NP_001394623.1:p.Phe1184Leu
  • NP_001394624.1:p.Phe1184Leu
  • NP_001394625.1:p.Phe1184Leu
  • NP_001394626.1:p.Phe1184Leu
  • NP_001394627.1:p.Phe1184Leu
  • NP_001394653.1:p.Phe1184Leu
  • NP_001394654.1:p.Phe1184Leu
  • NP_001394655.1:p.Phe1184Leu
  • NP_001394656.1:p.Phe1184Leu
  • NP_001394657.1:p.Phe1184Leu
  • NP_001394658.1:p.Phe1184Leu
  • NP_001394659.1:p.Phe1184Leu
  • NP_001394660.1:p.Phe1184Leu
  • NP_001394661.1:p.Phe1184Leu
  • NP_001394662.1:p.Phe1184Leu
  • NP_001394663.1:p.Phe1184Leu
  • NP_001394664.1:p.Phe1184Leu
  • NP_001394665.1:p.Phe1184Leu
  • NP_001394666.1:p.Phe1184Leu
  • NP_001394667.1:p.Phe1184Leu
  • NP_001394668.1:p.Phe1184Leu
  • NP_001394669.1:p.Phe1183Leu
  • NP_001394670.1:p.Phe1183Leu
  • NP_001394671.1:p.Phe1183Leu
  • NP_001394672.1:p.Phe1183Leu
  • NP_001394673.1:p.Phe1183Leu
  • NP_001394674.1:p.Phe1183Leu
  • NP_001394675.1:p.Phe1183Leu
  • NP_001394676.1:p.Phe1183Leu
  • NP_001394677.1:p.Phe1183Leu
  • NP_001394678.1:p.Phe1183Leu
  • NP_001394679.1:p.Phe1184Leu
  • NP_001394680.1:p.Phe1184Leu
  • NP_001394681.1:p.Phe1184Leu
  • NP_001394767.1:p.Phe1183Leu
  • NP_001394768.1:p.Phe1183Leu
  • NP_001394770.1:p.Phe1183Leu
  • NP_001394771.1:p.Phe1183Leu
  • NP_001394772.1:p.Phe1183Leu
  • NP_001394773.1:p.Phe1183Leu
  • NP_001394774.1:p.Phe1183Leu
  • NP_001394775.1:p.Phe1183Leu
  • NP_001394776.1:p.Phe1183Leu
  • NP_001394777.1:p.Phe1183Leu
  • NP_001394778.1:p.Phe1183Leu
  • NP_001394779.1:p.Phe1184Leu
  • NP_001394780.1:p.Phe1184Leu
  • NP_001394781.1:p.Phe1184Leu
  • NP_001394782.1:p.Phe1160Leu
  • NP_001394783.1:p.Phe1231Leu
  • NP_001394787.1:p.Phe1231Leu
  • NP_001394788.1:p.Phe1231Leu
  • NP_001394789.1:p.Phe1230Leu
  • NP_001394790.1:p.Phe1230Leu
  • NP_001394791.1:p.Phe1164Leu
  • NP_001394792.1:p.Phe1190Leu
  • NP_001394803.1:p.Phe1163Leu
  • NP_001394804.1:p.Phe1163Leu
  • NP_001394808.1:p.Phe1161Leu
  • NP_001394810.1:p.Phe1161Leu
  • NP_001394811.1:p.Phe1161Leu
  • NP_001394813.1:p.Phe1161Leu
  • NP_001394814.1:p.Phe1161Leu
  • NP_001394815.1:p.Phe1161Leu
  • NP_001394816.1:p.Phe1161Leu
  • NP_001394818.1:p.Phe1161Leu
  • NP_001394823.1:p.Phe1160Leu
  • NP_001394824.1:p.Phe1160Leu
  • NP_001394825.1:p.Phe1160Leu
  • NP_001394826.1:p.Phe1160Leu
  • NP_001394827.1:p.Phe1160Leu
  • NP_001394828.1:p.Phe1160Leu
  • NP_001394829.1:p.Phe1161Leu
  • NP_001394831.1:p.Phe1161Leu
  • NP_001394833.1:p.Phe1161Leu
  • NP_001394835.1:p.Phe1161Leu
  • NP_001394836.1:p.Phe1161Leu
  • NP_001394837.1:p.Phe1161Leu
  • NP_001394838.1:p.Phe1161Leu
  • NP_001394839.1:p.Phe1161Leu
  • NP_001394844.1:p.Phe1160Leu
  • NP_001394845.1:p.Phe1160Leu
  • NP_001394846.1:p.Phe1160Leu
  • NP_001394847.1:p.Phe1160Leu
  • NP_001394848.1:p.Phe1190Leu
  • NP_001394849.1:p.Phe1143Leu
  • NP_001394850.1:p.Phe1143Leu
  • NP_001394851.1:p.Phe1143Leu
  • NP_001394852.1:p.Phe1143Leu
  • NP_001394853.1:p.Phe1143Leu
  • NP_001394854.1:p.Phe1143Leu
  • NP_001394855.1:p.Phe1143Leu
  • NP_001394856.1:p.Phe1143Leu
  • NP_001394857.1:p.Phe1143Leu
  • NP_001394858.1:p.Phe1143Leu
  • NP_001394859.1:p.Phe1142Leu
  • NP_001394860.1:p.Phe1142Leu
  • NP_001394861.1:p.Phe1142Leu
  • NP_001394862.1:p.Phe1143Leu
  • NP_001394863.1:p.Phe1142Leu
  • NP_001394864.1:p.Phe1143Leu
  • NP_001394865.1:p.Phe1142Leu
  • NP_001394866.1:p.Phe1190Leu
  • NP_001394867.1:p.Phe1190Leu
  • NP_001394868.1:p.Phe1190Leu
  • NP_001394869.1:p.Phe1189Leu
  • NP_001394870.1:p.Phe1189Leu
  • NP_001394871.1:p.Phe1184Leu
  • NP_001394872.1:p.Phe1183Leu
  • NP_001394873.1:p.Phe1184Leu
  • NP_001394874.1:p.Phe1184Leu
  • NP_001394875.1:p.Phe1120Leu
  • NP_001394876.1:p.Phe1120Leu
  • NP_001394877.1:p.Phe1120Leu
  • NP_001394878.1:p.Phe1120Leu
  • NP_001394879.1:p.Phe1120Leu
  • NP_001394880.1:p.Phe1120Leu
  • NP_001394881.1:p.Phe1120Leu
  • NP_001394882.1:p.Phe1120Leu
  • NP_001394883.1:p.Phe1119Leu
  • NP_001394884.1:p.Phe1119Leu
  • NP_001394885.1:p.Phe1119Leu
  • NP_001394886.1:p.Phe1120Leu
  • NP_001394887.1:p.Phe1119Leu
  • NP_001394888.1:p.Phe1104Leu
  • NP_001394889.1:p.Phe1104Leu
  • NP_001394891.1:p.Phe1103Leu
  • NP_001394892.1:p.Phe1104Leu
  • NP_001394893.1:p.Phe1183Leu
  • NP_001394894.1:p.Phe1063Leu
  • NP_001394895.1:p.Phe935Leu
  • NP_001394896.1:p.Phe935Leu
  • NP_001394897.1:p.Phe363Leu
  • NP_001394898.1:p.Phe363Leu
  • NP_009225.1:p.Phe1231Leu
  • NP_009225.1:p.Phe1231Leu
  • NP_009228.2:p.Phe1184Leu
  • NP_009231.2:p.Phe1231Leu
  • LRG_292t1:c.3691T>C
  • LRG_292:g.126144T>C
  • LRG_292p1:p.Phe1231Leu
  • NC_000017.10:g.41243857A>G
  • NM_007294.3:c.3691T>C
  • NR_027676.1:n.3827T>C
  • U14680.1:n.3810T>C
  • p.F1231L
Nucleotide change:
3810T>C
Protein change:
F1063L
Links:
dbSNP: rs41293451
NCBI 1000 Genomes Browser:
rs41293451
Molecular consequence:
  • NM_001407970.1:c.788-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.788-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.785-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.788-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.788-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.788-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.788-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.788-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.788-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.788-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.788-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.788-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.788-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.788-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.785-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.785-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.785-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.788-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.785-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.785-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.788-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.785-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.785-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.785-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.785-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.785-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.785-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.785-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.785-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.788-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.788-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.791-817T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.785-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.779-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.710-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.647-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.710-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.710-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.707-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.710-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.710-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.707-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.665-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.665-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.665-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.665-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.665-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.665-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.662-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.662-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.662-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.662-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.665-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.665-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.665-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.665-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.665-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.665-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.665-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.665-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.665-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.662-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.662-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.662-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.662-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.662-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.653-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.647-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.647-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.647-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.647-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.647-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.647-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.647-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.647-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.647-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.647-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.644-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.644-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.644-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.644-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.647-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.647-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.644-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.647-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.644-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.788-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.785-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.587-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.584-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.587-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.578-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.578-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.578-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.578-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.578-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.578-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.578-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.578-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.578-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.575-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.575-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.578-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.575-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.524-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.524-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.524-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.524-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.524-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.524-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.455-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.521-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.521-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.521-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.452-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.452-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.407-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.284-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.578-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.578-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.788-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.788-808T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.3478T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.3691T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.3691T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.3691T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.3691T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.3688T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.3688T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.3688T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.3691T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.3691T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.3691T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.3691T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.3691T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.3691T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.3691T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.3691T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.3688T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.3688T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.3688T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.3688T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.3688T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.3688T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.3691T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.3691T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.3691T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.3691T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.3691T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.3691T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.3691T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.3691T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.3691T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.3691T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.3691T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.3688T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.3688T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.3688T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.3688T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.3688T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.3688T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.3688T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.3688T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.3688T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.3688T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.3688T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.3688T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.3691T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.3691T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.3691T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.3691T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.3688T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.3688T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.3682T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.3682T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.3568T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.3565T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.3691T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.3613T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.3613T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.3613T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.3613T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.3613T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.3613T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.3610T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.3610T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.3610T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.3610T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.3613T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.3568T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.3568T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.3568T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.3568T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.3568T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.3568T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.3565T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.3565T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.3565T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.3565T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.3568T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.3568T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.3568T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.3568T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.3568T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.3568T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.3568T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.3568T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.3568T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.3568T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.3691T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.3565T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.3565T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.3565T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.3565T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.3565T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.3565T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.3565T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.3550T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.3550T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.3550T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.3550T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.3550T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.3550T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.3550T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.3550T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.3550T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.3550T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.3550T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.3550T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.3550T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.3550T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.3550T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.3550T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.3550T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.3550T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.3550T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.3550T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.3550T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.3550T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.3547T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.3547T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.3547T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.3547T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.3547T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.3547T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.3547T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.3547T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.3547T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.3547T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.3550T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.3550T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.3550T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.3547T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.3547T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.3547T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.3547T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.3547T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.3547T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.3547T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.3547T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.3547T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.3547T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.3547T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.3550T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.3550T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.3550T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.3478T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.3691T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.3691T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.3691T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.3688T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.3688T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.3490T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.3568T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.3487T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.3487T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.3481T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.3481T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.3481T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.3481T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.3481T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.3481T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.3481T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.3481T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.3478T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.3478T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.3478T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.3478T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.3478T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.3478T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.3481T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.3481T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.3481T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.3481T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.3481T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.3481T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.3481T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.3481T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.3478T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.3478T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.3478T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.3478T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.3568T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.3427T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.3427T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.3427T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.3427T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.3427T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.3427T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.3427T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.3427T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.3427T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.3427T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.3424T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.3424T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.3424T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.3427T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.3424T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.3427T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.3424T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.3568T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.3568T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.3568T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.3565T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.3565T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.3550T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.3547T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.3550T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.3550T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.3358T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.3358T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.3358T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.3358T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.3358T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.3358T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.3358T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.3358T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.3355T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.3355T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.3355T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.3358T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.3355T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.3310T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.3310T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.3307T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.3310T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.3547T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.3187T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.2803T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.2803T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.1087T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.1087T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.3691T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.3550T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.3691T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000209955GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Likely benign
(Dec 20, 2020)
germlineclinical testing

Citation Link,

SCV000296415Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)
Likely benign
(Feb 6, 2023)
unknownclinical testing

PubMed (8)
[See all records that cite these PMIDs]

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

Evolution of the tumor suppressor BRCA1 locus in primates: implications for cancer predisposition.

Pavlicek A, Noskov VN, Kouprina N, Barrett JC, Jurka J, Larionov V.

Hum Mol Genet. 2004 Nov 15;13(22):2737-51. Epub 2004 Sep 22.

PubMed [citation]
PMID:
15385441

Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations.

Martelotto LG, Ng CK, De Filippo MR, Zhang Y, Piscuoglio S, Lim RS, Shen R, Norton L, Reis-Filho JS, Weigelt B.

Genome Biol. 2014 Oct 28;15(10):484. doi: 10.1186/s13059-014-0484-1.

PubMed [citation]
PMID:
25348012
PMCID:
PMC4232638
See all PubMed Citations (8)

Details of each submission

From GeneDx, SCV000209955.8

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

Description

This variant is associated with the following publications: (PMID: 25348012, 26295337, 23704879, 15385441, 28873162, 30400234)

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

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000296415.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (8)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 15, 2024