U.S. flag

An official website of the United States government

NM_007294.4(BRCA1):c.81T>C (p.Cys27=) AND not provided

Germline classification:
Likely benign (1 submission)
Last evaluated:
Aug 18, 2020
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001281715.2

Allele description [Variation Report for NM_007294.4(BRCA1):c.81T>C (p.Cys27=)]

NM_007294.4(BRCA1):c.81T>C (p.Cys27=)

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.81T>C (p.Cys27=)
Other names:
C27C
HGVS:
  • NC_000017.11:g.43115779A>G
  • NG_005905.2:g.102205T>C
  • NM_001407571.1:c.-108T>C
  • NM_001407581.1:c.81T>C
  • NM_001407582.1:c.81T>C
  • NM_001407583.1:c.81T>C
  • NM_001407585.1:c.81T>C
  • NM_001407587.1:c.81T>C
  • NM_001407590.1:c.81T>C
  • NM_001407591.1:c.81T>C
  • NM_001407593.1:c.81T>C
  • NM_001407594.1:c.81T>C
  • NM_001407596.1:c.81T>C
  • NM_001407597.1:c.81T>C
  • NM_001407598.1:c.81T>C
  • NM_001407602.1:c.81T>C
  • NM_001407603.1:c.81T>C
  • NM_001407605.1:c.81T>C
  • NM_001407610.1:c.81T>C
  • NM_001407611.1:c.81T>C
  • NM_001407612.1:c.81T>C
  • NM_001407613.1:c.81T>C
  • NM_001407614.1:c.81T>C
  • NM_001407615.1:c.81T>C
  • NM_001407616.1:c.81T>C
  • NM_001407617.1:c.81T>C
  • NM_001407618.1:c.81T>C
  • NM_001407619.1:c.81T>C
  • NM_001407620.1:c.81T>C
  • NM_001407621.1:c.81T>C
  • NM_001407622.1:c.81T>C
  • NM_001407623.1:c.81T>C
  • NM_001407624.1:c.81T>C
  • NM_001407625.1:c.81T>C
  • NM_001407626.1:c.81T>C
  • NM_001407627.1:c.81T>C
  • NM_001407628.1:c.81T>C
  • NM_001407629.1:c.81T>C
  • NM_001407630.1:c.81T>C
  • NM_001407631.1:c.81T>C
  • NM_001407632.1:c.81T>C
  • NM_001407633.1:c.81T>C
  • NM_001407634.1:c.81T>C
  • NM_001407635.1:c.81T>C
  • NM_001407636.1:c.81T>C
  • NM_001407637.1:c.81T>C
  • NM_001407638.1:c.81T>C
  • NM_001407639.1:c.81T>C
  • NM_001407640.1:c.81T>C
  • NM_001407641.1:c.81T>C
  • NM_001407642.1:c.81T>C
  • NM_001407644.1:c.81T>C
  • NM_001407645.1:c.81T>C
  • NM_001407646.1:c.81T>C
  • NM_001407647.1:c.81T>C
  • NM_001407648.1:c.81T>C
  • NM_001407649.1:c.81T>C
  • NM_001407652.1:c.81T>C
  • NM_001407653.1:c.81T>C
  • NM_001407654.1:c.81T>C
  • NM_001407655.1:c.81T>C
  • NM_001407656.1:c.81T>C
  • NM_001407657.1:c.81T>C
  • NM_001407658.1:c.81T>C
  • NM_001407659.1:c.81T>C
  • NM_001407660.1:c.81T>C
  • NM_001407661.1:c.81T>C
  • NM_001407662.1:c.81T>C
  • NM_001407663.1:c.81T>C
  • NM_001407664.1:c.81T>C
  • NM_001407665.1:c.81T>C
  • NM_001407666.1:c.81T>C
  • NM_001407667.1:c.81T>C
  • NM_001407668.1:c.81T>C
  • NM_001407669.1:c.81T>C
  • NM_001407670.1:c.81T>C
  • NM_001407671.1:c.81T>C
  • NM_001407672.1:c.81T>C
  • NM_001407673.1:c.81T>C
  • NM_001407674.1:c.81T>C
  • NM_001407675.1:c.81T>C
  • NM_001407676.1:c.81T>C
  • NM_001407677.1:c.81T>C
  • NM_001407678.1:c.81T>C
  • NM_001407679.1:c.81T>C
  • NM_001407680.1:c.81T>C
  • NM_001407681.1:c.81T>C
  • NM_001407682.1:c.81T>C
  • NM_001407683.1:c.81T>C
  • NM_001407684.1:c.81T>C
  • NM_001407685.1:c.81T>C
  • NM_001407686.1:c.81T>C
  • NM_001407687.1:c.81T>C
  • NM_001407688.1:c.81T>C
  • NM_001407689.1:c.81T>C
  • NM_001407690.1:c.81T>C
  • NM_001407691.1:c.81T>C
  • NM_001407692.1:c.-7-9246T>C
  • NM_001407694.1:c.-177T>C
  • NM_001407695.1:c.-181T>C
  • NM_001407696.1:c.-177T>C
  • NM_001407697.1:c.-61T>C
  • NM_001407698.1:c.-8+8238T>C
  • NM_001407724.1:c.-177T>C
  • NM_001407725.1:c.-61T>C
  • NM_001407726.1:c.-8+5779T>C
  • NM_001407727.1:c.-177T>C
  • NM_001407728.1:c.-61T>C
  • NM_001407729.1:c.-61T>C
  • NM_001407730.1:c.-61T>C
  • NM_001407731.1:c.-177T>C
  • NM_001407732.1:c.-8+8238T>C
  • NM_001407733.1:c.-177T>C
  • NM_001407734.1:c.-61T>C
  • NM_001407735.1:c.-61T>C
  • NM_001407736.1:c.-8+8238T>C
  • NM_001407737.1:c.-61T>C
  • NM_001407738.1:c.-8+8238T>C
  • NM_001407739.1:c.-61T>C
  • NM_001407740.1:c.-61T>C
  • NM_001407741.1:c.-61T>C
  • NM_001407742.1:c.-8+8238T>C
  • NM_001407743.1:c.-61T>C
  • NM_001407744.1:c.-8+8238T>C
  • NM_001407745.1:c.-61T>C
  • NM_001407746.1:c.-177T>C
  • NM_001407747.1:c.-7-9246T>C
  • NM_001407748.1:c.-61T>C
  • NM_001407749.1:c.-177T>C
  • NM_001407750.1:c.-8+8238T>C
  • NM_001407751.1:c.-8+5779T>C
  • NM_001407752.1:c.-61T>C
  • NM_001407838.1:c.-61T>C
  • NM_001407839.1:c.-61T>C
  • NM_001407841.1:c.-57T>C
  • NM_001407842.1:c.-177T>C
  • NM_001407843.1:c.-177T>C
  • NM_001407844.1:c.-61T>C
  • NM_001407845.1:c.-8+8238T>C
  • NM_001407846.1:c.-61T>C
  • NM_001407847.1:c.-61T>C
  • NM_001407848.1:c.-61T>C
  • NM_001407849.1:c.-8+8238T>C
  • NM_001407850.1:c.-61T>C
  • NM_001407851.1:c.-61T>C
  • NM_001407852.1:c.-8+8238T>C
  • NM_001407853.1:c.-108T>C
  • NM_001407854.1:c.81T>C
  • NM_001407858.1:c.81T>C
  • NM_001407859.1:c.81T>C
  • NM_001407860.1:c.81T>C
  • NM_001407861.1:c.81T>C
  • NM_001407862.1:c.81T>C
  • NM_001407863.1:c.81T>C
  • NM_001407874.1:c.81T>C
  • NM_001407875.1:c.81T>C
  • NM_001407879.1:c.-108T>C
  • NM_001407881.1:c.-55+8238T>C
  • NM_001407882.1:c.-108T>C
  • NM_001407884.1:c.-108T>C
  • NM_001407885.1:c.-108T>C
  • NM_001407886.1:c.-108T>C
  • NM_001407887.1:c.-108T>C
  • NM_001407889.1:c.-224T>C
  • NM_001407894.1:c.-108T>C
  • NM_001407895.1:c.-108T>C
  • NM_001407896.1:c.-108T>C
  • NM_001407897.1:c.-108T>C
  • NM_001407898.1:c.-55+8238T>C
  • NM_001407899.1:c.-108T>C
  • NM_001407900.1:c.-224T>C
  • NM_001407902.1:c.-55+8238T>C
  • NM_001407904.1:c.-108T>C
  • NM_001407906.1:c.-108T>C
  • NM_001407907.1:c.-108T>C
  • NM_001407908.1:c.-108T>C
  • NM_001407909.1:c.-108T>C
  • NM_001407910.1:c.-108T>C
  • NM_001407915.1:c.-108T>C
  • NM_001407916.1:c.-108T>C
  • NM_001407917.1:c.-108T>C
  • NM_001407918.1:c.-108T>C
  • NM_001407919.1:c.81T>C
  • NM_001407920.1:c.-61T>C
  • NM_001407921.1:c.-61T>C
  • NM_001407922.1:c.-61T>C
  • NM_001407923.1:c.-61T>C
  • NM_001407924.1:c.-8+8238T>C
  • NM_001407925.1:c.-8+8238T>C
  • NM_001407926.1:c.-61T>C
  • NM_001407927.1:c.-61T>C
  • NM_001407928.1:c.-8+8238T>C
  • NM_001407929.1:c.-8+8238T>C
  • NM_001407930.1:c.-177T>C
  • NM_001407931.1:c.-7-9246T>C
  • NM_001407932.1:c.-8+8238T>C
  • NM_001407933.1:c.-61T>C
  • NM_001407934.1:c.-61T>C
  • NM_001407935.1:c.-61T>C
  • NM_001407936.1:c.-8+8238T>C
  • NM_001407937.1:c.81T>C
  • NM_001407938.1:c.81T>C
  • NM_001407939.1:c.81T>C
  • NM_001407940.1:c.81T>C
  • NM_001407941.1:c.81T>C
  • NM_001407942.1:c.-177T>C
  • NM_001407943.1:c.-61T>C
  • NM_001407944.1:c.-61T>C
  • NM_001407945.1:c.-8+8238T>C
  • NM_001407946.1:c.-108T>C
  • NM_001407947.1:c.-108T>C
  • NM_001407948.1:c.-108T>C
  • NM_001407949.1:c.-108T>C
  • NM_001407950.1:c.-108T>C
  • NM_001407951.1:c.-108T>C
  • NM_001407952.1:c.-108T>C
  • NM_001407953.1:c.-108T>C
  • NM_001407954.1:c.-108T>C
  • NM_001407955.1:c.-108T>C
  • NM_001407956.1:c.-108T>C
  • NM_001407957.1:c.-108T>C
  • NM_001407958.1:c.-108T>C
  • NM_001407959.1:c.-170+9498T>C
  • NM_001407960.1:c.-223T>C
  • NM_001407962.1:c.-223T>C
  • NM_001407963.1:c.-170+9492T>C
  • NM_001407964.1:c.-61T>C
  • NM_001407965.1:c.-339T>C
  • NM_001407966.1:c.-219+9492T>C
  • NM_001407967.1:c.-219+9498T>C
  • NM_001407968.1:c.81T>C
  • NM_001407969.1:c.81T>C
  • NM_001407970.1:c.81T>C
  • NM_001407971.1:c.81T>C
  • NM_001407972.1:c.81T>C
  • NM_001407973.1:c.81T>C
  • NM_001407974.1:c.81T>C
  • NM_001407975.1:c.81T>C
  • NM_001407976.1:c.81T>C
  • NM_001407977.1:c.81T>C
  • NM_001407978.1:c.81T>C
  • NM_001407979.1:c.81T>C
  • NM_001407980.1:c.81T>C
  • NM_001407981.1:c.81T>C
  • NM_001407982.1:c.81T>C
  • NM_001407983.1:c.81T>C
  • NM_001407984.1:c.81T>C
  • NM_001407985.1:c.81T>C
  • NM_001407986.1:c.81T>C
  • NM_001407990.1:c.81T>C
  • NM_001407991.1:c.81T>C
  • NM_001407992.1:c.81T>C
  • NM_001407993.1:c.81T>C
  • NM_001408392.1:c.81T>C
  • NM_001408396.1:c.81T>C
  • NM_001408397.1:c.81T>C
  • NM_001408398.1:c.81T>C
  • NM_001408399.1:c.81T>C
  • NM_001408400.1:c.81T>C
  • NM_001408401.1:c.81T>C
  • NM_001408402.1:c.81T>C
  • NM_001408403.1:c.81T>C
  • NM_001408404.1:c.81T>C
  • NM_001408406.1:c.81T>C
  • NM_001408407.1:c.81T>C
  • NM_001408408.1:c.81T>C
  • NM_001408409.1:c.81T>C
  • NM_001408410.1:c.-61T>C
  • NM_001408411.1:c.81T>C
  • NM_001408412.1:c.81T>C
  • NM_001408413.1:c.81T>C
  • NM_001408414.1:c.81T>C
  • NM_001408415.1:c.81T>C
  • NM_001408416.1:c.81T>C
  • NM_001408418.1:c.81T>C
  • NM_001408419.1:c.81T>C
  • NM_001408420.1:c.81T>C
  • NM_001408421.1:c.81T>C
  • NM_001408422.1:c.81T>C
  • NM_001408423.1:c.81T>C
  • NM_001408424.1:c.81T>C
  • NM_001408425.1:c.81T>C
  • NM_001408426.1:c.81T>C
  • NM_001408427.1:c.81T>C
  • NM_001408428.1:c.81T>C
  • NM_001408429.1:c.81T>C
  • NM_001408430.1:c.81T>C
  • NM_001408431.1:c.81T>C
  • NM_001408432.1:c.81T>C
  • NM_001408433.1:c.81T>C
  • NM_001408434.1:c.81T>C
  • NM_001408435.1:c.81T>C
  • NM_001408436.1:c.81T>C
  • NM_001408437.1:c.81T>C
  • NM_001408438.1:c.81T>C
  • NM_001408439.1:c.81T>C
  • NM_001408440.1:c.81T>C
  • NM_001408441.1:c.81T>C
  • NM_001408442.1:c.81T>C
  • NM_001408443.1:c.81T>C
  • NM_001408444.1:c.81T>C
  • NM_001408445.1:c.81T>C
  • NM_001408446.1:c.81T>C
  • NM_001408447.1:c.81T>C
  • NM_001408448.1:c.81T>C
  • NM_001408450.1:c.81T>C
  • NM_001408451.1:c.80+8238T>C
  • NM_001408452.1:c.-61T>C
  • NM_001408453.1:c.-61T>C
  • NM_001408454.1:c.-8+8238T>C
  • NM_001408455.1:c.-177T>C
  • NM_001408456.1:c.-177T>C
  • NM_001408457.1:c.-7-9246T>C
  • NM_001408458.1:c.-61T>C
  • NM_001408459.1:c.-8+8238T>C
  • NM_001408460.1:c.-8+8238T>C
  • NM_001408461.1:c.-8+8238T>C
  • NM_001408462.1:c.-61T>C
  • NM_001408463.1:c.-61T>C
  • NM_001408464.1:c.-8+8238T>C
  • NM_001408465.1:c.-181T>C
  • NM_001408466.1:c.-61T>C
  • NM_001408467.1:c.-8+8238T>C
  • NM_001408468.1:c.-177T>C
  • NM_001408469.1:c.-61T>C
  • NM_001408470.1:c.-61T>C
  • NM_001408472.1:c.81T>C
  • NM_001408473.1:c.81T>C
  • NM_001408474.1:c.81T>C
  • NM_001408475.1:c.81T>C
  • NM_001408476.1:c.81T>C
  • NM_001408478.1:c.-108T>C
  • NM_001408479.1:c.-108T>C
  • NM_001408480.1:c.-108T>C
  • NM_001408481.1:c.-108T>C
  • NM_001408482.1:c.-108T>C
  • NM_001408483.1:c.-108T>C
  • NM_001408484.1:c.-108T>C
  • NM_001408485.1:c.-108T>C
  • NM_001408489.1:c.-108T>C
  • NM_001408490.1:c.-108T>C
  • NM_001408491.1:c.-108T>C
  • NM_001408492.1:c.-224T>C
  • NM_001408493.1:c.-108T>C
  • NM_001408494.1:c.81T>C
  • NM_001408495.1:c.81T>C
  • NM_001408496.1:c.-8+8238T>C
  • NM_001408497.1:c.-61T>C
  • NM_001408498.1:c.-8+8238T>C
  • NM_001408499.1:c.-61T>C
  • NM_001408500.1:c.-61T>C
  • NM_001408501.1:c.-177T>C
  • NM_001408502.1:c.-108T>C
  • NM_001408503.1:c.-61T>C
  • NM_001408504.1:c.-61T>C
  • NM_001408505.1:c.-61T>C
  • NM_001408506.1:c.-108T>C
  • NM_001408507.1:c.-108T>C
  • NM_001408508.1:c.-108T>C
  • NM_001408509.1:c.-108T>C
  • NM_001408510.1:c.-223T>C
  • NM_001408511.1:c.-7-9246T>C
  • NM_001408512.1:c.-223T>C
  • NM_001408513.1:c.-108T>C
  • NM_001408514.1:c.-108T>C
  • NM_007294.4:c.81T>CMANE SELECT
  • NM_007297.4:c.-8+8238T>C
  • NM_007298.4:c.81T>C
  • NM_007299.4:c.81T>C
  • NM_007300.4:c.81T>C
  • NM_007304.2:c.81T>C
  • NP_001394510.1:p.Cys27=
  • NP_001394511.1:p.Cys27=
  • NP_001394512.1:p.Cys27=
  • NP_001394514.1:p.Cys27=
  • NP_001394516.1:p.Cys27=
  • NP_001394519.1:p.Cys27=
  • NP_001394520.1:p.Cys27=
  • NP_001394522.1:p.Cys27=
  • NP_001394523.1:p.Cys27=
  • NP_001394525.1:p.Cys27=
  • NP_001394526.1:p.Cys27=
  • NP_001394527.1:p.Cys27=
  • NP_001394531.1:p.Cys27=
  • NP_001394532.1:p.Cys27=
  • NP_001394534.1:p.Cys27=
  • NP_001394539.1:p.Cys27=
  • NP_001394540.1:p.Cys27=
  • NP_001394541.1:p.Cys27=
  • NP_001394542.1:p.Cys27=
  • NP_001394543.1:p.Cys27=
  • NP_001394544.1:p.Cys27=
  • NP_001394545.1:p.Cys27=
  • NP_001394546.1:p.Cys27=
  • NP_001394547.1:p.Cys27=
  • NP_001394548.1:p.Cys27=
  • NP_001394549.1:p.Cys27=
  • NP_001394550.1:p.Cys27=
  • NP_001394551.1:p.Cys27=
  • NP_001394552.1:p.Cys27=
  • NP_001394553.1:p.Cys27=
  • NP_001394554.1:p.Cys27=
  • NP_001394555.1:p.Cys27=
  • NP_001394556.1:p.Cys27=
  • NP_001394557.1:p.Cys27=
  • NP_001394558.1:p.Cys27=
  • NP_001394559.1:p.Cys27=
  • NP_001394560.1:p.Cys27=
  • NP_001394561.1:p.Cys27=
  • NP_001394562.1:p.Cys27=
  • NP_001394563.1:p.Cys27=
  • NP_001394564.1:p.Cys27=
  • NP_001394565.1:p.Cys27=
  • NP_001394566.1:p.Cys27=
  • NP_001394567.1:p.Cys27=
  • NP_001394568.1:p.Cys27=
  • NP_001394569.1:p.Cys27=
  • NP_001394570.1:p.Cys27=
  • NP_001394571.1:p.Cys27=
  • NP_001394573.1:p.Cys27=
  • NP_001394574.1:p.Cys27=
  • NP_001394575.1:p.Cys27=
  • NP_001394576.1:p.Cys27=
  • NP_001394577.1:p.Cys27=
  • NP_001394578.1:p.Cys27=
  • NP_001394581.1:p.Cys27=
  • NP_001394582.1:p.Cys27=
  • NP_001394583.1:p.Cys27=
  • NP_001394584.1:p.Cys27=
  • NP_001394585.1:p.Cys27=
  • NP_001394586.1:p.Cys27=
  • NP_001394587.1:p.Cys27=
  • NP_001394588.1:p.Cys27=
  • NP_001394589.1:p.Cys27=
  • NP_001394590.1:p.Cys27=
  • NP_001394591.1:p.Cys27=
  • NP_001394592.1:p.Cys27=
  • NP_001394593.1:p.Cys27=
  • NP_001394594.1:p.Cys27=
  • NP_001394595.1:p.Cys27=
  • NP_001394596.1:p.Cys27=
  • NP_001394597.1:p.Cys27=
  • NP_001394598.1:p.Cys27=
  • NP_001394599.1:p.Cys27=
  • NP_001394600.1:p.Cys27=
  • NP_001394601.1:p.Cys27=
  • NP_001394602.1:p.Cys27=
  • NP_001394603.1:p.Cys27=
  • NP_001394604.1:p.Cys27=
  • NP_001394605.1:p.Cys27=
  • NP_001394606.1:p.Cys27=
  • NP_001394607.1:p.Cys27=
  • NP_001394608.1:p.Cys27=
  • NP_001394609.1:p.Cys27=
  • NP_001394610.1:p.Cys27=
  • NP_001394611.1:p.Cys27=
  • NP_001394612.1:p.Cys27=
  • NP_001394613.1:p.Cys27=
  • NP_001394614.1:p.Cys27=
  • NP_001394615.1:p.Cys27=
  • NP_001394616.1:p.Cys27=
  • NP_001394617.1:p.Cys27=
  • NP_001394618.1:p.Cys27=
  • NP_001394619.1:p.Cys27=
  • NP_001394620.1:p.Cys27=
  • NP_001394783.1:p.Cys27=
  • NP_001394787.1:p.Cys27=
  • NP_001394788.1:p.Cys27=
  • NP_001394789.1:p.Cys27=
  • NP_001394790.1:p.Cys27=
  • NP_001394791.1:p.Cys27=
  • NP_001394792.1:p.Cys27=
  • NP_001394803.1:p.Cys27=
  • NP_001394804.1:p.Cys27=
  • NP_001394848.1:p.Cys27=
  • NP_001394866.1:p.Cys27=
  • NP_001394867.1:p.Cys27=
  • NP_001394868.1:p.Cys27=
  • NP_001394869.1:p.Cys27=
  • NP_001394870.1:p.Cys27=
  • NP_001394897.1:p.Cys27=
  • NP_001394898.1:p.Cys27=
  • NP_001394899.1:p.Cys27=
  • NP_001394900.1:p.Cys27=
  • NP_001394901.1:p.Cys27=
  • NP_001394902.1:p.Cys27=
  • NP_001394903.1:p.Cys27=
  • NP_001394904.1:p.Cys27=
  • NP_001394905.1:p.Cys27=
  • NP_001394906.1:p.Cys27=
  • NP_001394907.1:p.Cys27=
  • NP_001394908.1:p.Cys27=
  • NP_001394909.1:p.Cys27=
  • NP_001394910.1:p.Cys27=
  • NP_001394911.1:p.Cys27=
  • NP_001394912.1:p.Cys27=
  • NP_001394913.1:p.Cys27=
  • NP_001394914.1:p.Cys27=
  • NP_001394915.1:p.Cys27=
  • NP_001394919.1:p.Cys27=
  • NP_001394920.1:p.Cys27=
  • NP_001394921.1:p.Cys27=
  • NP_001394922.1:p.Cys27=
  • NP_001395321.1:p.Cys27=
  • NP_001395325.1:p.Cys27=
  • NP_001395326.1:p.Cys27=
  • NP_001395327.1:p.Cys27=
  • NP_001395328.1:p.Cys27=
  • NP_001395329.1:p.Cys27=
  • NP_001395330.1:p.Cys27=
  • NP_001395331.1:p.Cys27=
  • NP_001395332.1:p.Cys27=
  • NP_001395333.1:p.Cys27=
  • NP_001395335.1:p.Cys27=
  • NP_001395336.1:p.Cys27=
  • NP_001395337.1:p.Cys27=
  • NP_001395338.1:p.Cys27=
  • NP_001395340.1:p.Cys27=
  • NP_001395341.1:p.Cys27=
  • NP_001395342.1:p.Cys27=
  • NP_001395343.1:p.Cys27=
  • NP_001395344.1:p.Cys27=
  • NP_001395345.1:p.Cys27=
  • NP_001395347.1:p.Cys27=
  • NP_001395348.1:p.Cys27=
  • NP_001395349.1:p.Cys27=
  • NP_001395350.1:p.Cys27=
  • NP_001395351.1:p.Cys27=
  • NP_001395352.1:p.Cys27=
  • NP_001395353.1:p.Cys27=
  • NP_001395354.1:p.Cys27=
  • NP_001395355.1:p.Cys27=
  • NP_001395356.1:p.Cys27=
  • NP_001395357.1:p.Cys27=
  • NP_001395358.1:p.Cys27=
  • NP_001395359.1:p.Cys27=
  • NP_001395360.1:p.Cys27=
  • NP_001395361.1:p.Cys27=
  • NP_001395362.1:p.Cys27=
  • NP_001395363.1:p.Cys27=
  • NP_001395364.1:p.Cys27=
  • NP_001395365.1:p.Cys27=
  • NP_001395366.1:p.Cys27=
  • NP_001395367.1:p.Cys27=
  • NP_001395368.1:p.Cys27=
  • NP_001395369.1:p.Cys27=
  • NP_001395370.1:p.Cys27=
  • NP_001395371.1:p.Cys27=
  • NP_001395372.1:p.Cys27=
  • NP_001395373.1:p.Cys27=
  • NP_001395374.1:p.Cys27=
  • NP_001395375.1:p.Cys27=
  • NP_001395376.1:p.Cys27=
  • NP_001395377.1:p.Cys27=
  • NP_001395379.1:p.Cys27=
  • NP_001395401.1:p.Cys27=
  • NP_001395402.1:p.Cys27=
  • NP_001395403.1:p.Cys27=
  • NP_001395404.1:p.Cys27=
  • NP_001395405.1:p.Cys27=
  • NP_001395423.1:p.Cys27=
  • NP_001395424.1:p.Cys27=
  • NP_009225.1:p.Cys27=
  • NP_009225.1:p.Cys27=
  • NP_009229.2:p.Cys27=
  • NP_009230.2:p.Cys27=
  • NP_009231.2:p.Cys27=
  • NP_009235.2:p.Cys27=
  • LRG_292t1:c.81T>C
  • LRG_292:g.102205T>C
  • LRG_292p1:p.Cys27=
  • NC_000017.10:g.41267796A>G
  • NM_007294.3:c.81T>C
  • NR_027676.2:n.283T>C
  • p.C27C
  • p.Cys27Cys
Nucleotide change:
200T>C
Links:
dbSNP: rs587780805
NCBI 1000 Genomes Browser:
rs587780805
Molecular consequence:
  • NM_001407571.1:c.-108T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407694.1:c.-177T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407695.1:c.-181T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407696.1:c.-177T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407697.1:c.-61T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407724.1:c.-177T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407725.1:c.-61T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407727.1:c.-177T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407728.1:c.-61T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407729.1:c.-61T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407730.1:c.-61T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407731.1:c.-177T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407733.1:c.-177T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407734.1:c.-61T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407735.1:c.-61T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407737.1:c.-61T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407739.1:c.-61T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407740.1:c.-61T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407741.1:c.-61T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407743.1:c.-61T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407745.1:c.-61T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407746.1:c.-177T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407748.1:c.-61T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407749.1:c.-177T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407752.1:c.-61T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407838.1:c.-61T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407839.1:c.-61T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407841.1:c.-57T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407842.1:c.-177T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407843.1:c.-177T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407844.1:c.-61T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407846.1:c.-61T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407847.1:c.-61T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407848.1:c.-61T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407850.1:c.-61T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407851.1:c.-61T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407853.1:c.-108T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407879.1:c.-108T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407882.1:c.-108T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407884.1:c.-108T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407885.1:c.-108T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407886.1:c.-108T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407887.1:c.-108T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407889.1:c.-224T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407894.1:c.-108T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407895.1:c.-108T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407896.1:c.-108T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407897.1:c.-108T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407899.1:c.-108T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407900.1:c.-224T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407904.1:c.-108T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407906.1:c.-108T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407907.1:c.-108T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407908.1:c.-108T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407909.1:c.-108T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407910.1:c.-108T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407915.1:c.-108T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407916.1:c.-108T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407917.1:c.-108T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407918.1:c.-108T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407920.1:c.-61T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407921.1:c.-61T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407922.1:c.-61T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407923.1:c.-61T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407926.1:c.-61T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407927.1:c.-61T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407930.1:c.-177T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407933.1:c.-61T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407934.1:c.-61T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407935.1:c.-61T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407942.1:c.-177T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407943.1:c.-61T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407944.1:c.-61T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407946.1:c.-108T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407947.1:c.-108T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407948.1:c.-108T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407949.1:c.-108T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407950.1:c.-108T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407951.1:c.-108T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407952.1:c.-108T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407953.1:c.-108T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407954.1:c.-108T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407955.1:c.-108T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407956.1:c.-108T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407957.1:c.-108T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407958.1:c.-108T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407960.1:c.-223T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407962.1:c.-223T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407964.1:c.-61T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407965.1:c.-339T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408410.1:c.-61T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408452.1:c.-61T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408453.1:c.-61T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408455.1:c.-177T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408456.1:c.-177T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408458.1:c.-61T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408462.1:c.-61T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408463.1:c.-61T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408465.1:c.-181T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408466.1:c.-61T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408468.1:c.-177T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408469.1:c.-61T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408470.1:c.-61T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408478.1:c.-108T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408479.1:c.-108T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408480.1:c.-108T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408481.1:c.-108T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408482.1:c.-108T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408483.1:c.-108T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408484.1:c.-108T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408485.1:c.-108T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408489.1:c.-108T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408490.1:c.-108T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408491.1:c.-108T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408492.1:c.-224T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408493.1:c.-108T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408497.1:c.-61T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408499.1:c.-61T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408500.1:c.-61T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408501.1:c.-177T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408502.1:c.-108T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408503.1:c.-61T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408504.1:c.-61T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408505.1:c.-61T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408506.1:c.-108T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408507.1:c.-108T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408508.1:c.-108T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408509.1:c.-108T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408510.1:c.-223T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408512.1:c.-223T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408513.1:c.-108T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408514.1:c.-108T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407692.1:c.-7-9246T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407698.1:c.-8+8238T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407726.1:c.-8+5779T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407732.1:c.-8+8238T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407736.1:c.-8+8238T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407738.1:c.-8+8238T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407742.1:c.-8+8238T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407744.1:c.-8+8238T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407747.1:c.-7-9246T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407750.1:c.-8+8238T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407751.1:c.-8+5779T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407845.1:c.-8+8238T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407849.1:c.-8+8238T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407852.1:c.-8+8238T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407881.1:c.-55+8238T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407898.1:c.-55+8238T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407902.1:c.-55+8238T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407924.1:c.-8+8238T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407925.1:c.-8+8238T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407928.1:c.-8+8238T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407929.1:c.-8+8238T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407931.1:c.-7-9246T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407932.1:c.-8+8238T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407936.1:c.-8+8238T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407945.1:c.-8+8238T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407959.1:c.-170+9498T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407963.1:c.-170+9492T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407966.1:c.-219+9492T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407967.1:c.-219+9498T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.80+8238T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.-8+8238T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.-7-9246T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.-8+8238T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.-8+8238T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.-8+8238T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.-8+8238T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.-8+8238T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.-8+8238T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.-8+8238T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.-7-9246T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007297.4:c.-8+8238T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407581.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407582.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407583.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407585.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407587.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407590.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407591.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407593.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407594.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407596.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407597.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407598.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407602.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407603.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407605.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407610.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407611.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407612.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407613.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407614.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407615.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407616.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407617.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407618.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407619.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407620.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407621.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407622.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407623.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407624.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407625.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407626.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407627.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407628.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407629.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407630.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407631.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407632.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407633.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407634.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407635.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407636.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407637.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407638.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407639.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407640.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407641.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407642.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407644.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407645.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407646.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407647.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407648.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407649.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407652.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407653.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407654.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407655.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407656.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407657.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407658.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407659.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407660.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407661.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407662.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407663.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407664.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407665.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407666.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407667.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407668.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407669.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407670.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407671.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407672.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407673.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407674.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407675.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407676.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407677.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407678.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407679.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407680.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407681.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407682.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407683.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407684.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407685.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407686.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407687.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407688.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407689.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407690.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407691.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407854.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407858.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407859.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407860.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407861.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407862.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407863.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407874.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407875.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407919.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407937.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407938.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407939.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407940.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407941.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407968.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407969.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407970.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407971.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407972.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407973.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407974.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407975.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407976.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407977.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407978.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407979.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407980.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407981.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407982.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407983.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407984.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407985.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407986.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407990.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407991.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407992.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407993.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408392.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408396.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408397.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408398.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408399.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408400.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408401.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408402.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408403.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408404.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408406.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408407.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408408.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408409.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408411.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408412.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408413.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408414.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408415.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408416.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408418.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408419.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408420.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408421.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408422.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408423.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408424.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408425.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408426.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408427.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408428.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408429.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408430.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408431.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408432.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408433.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408434.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408435.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408436.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408437.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408438.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408439.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408440.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408441.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408442.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408443.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408444.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408445.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408446.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408447.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408448.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408450.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408472.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408473.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408474.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408475.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408476.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408494.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408495.1:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_007294.4:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_007298.4:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_007299.4:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_007300.4:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_007304.2:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
Functional consequence:
functionally_normal [Sequence Ontology: SO:0002219] - Comment(s)

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000600440Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Likely benign
(Aug 18, 2020) 		unknownclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Accurate classification of BRCA1 variants with saturation genome editing.

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

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

PubMed [citation]
PMID:
30209399
PMCID:
PMC6181777

Characterization of splice-altering mutations in inherited predisposition to cancer.

Casadei S, Gulsuner S, Shirts BH, Mandell JB, Kortbawi HM, Norquist BS, Swisher EM, Lee MK, Goldberg Y, O'Connor R, Tan Z, Pritchard CC, King MC, Walsh T.

Proc Natl Acad Sci U S A. 2019 Dec 26;116(52):26798-26807. doi: 10.1073/pnas.1915608116. Epub 2019 Dec 16.

PubMed [citation]
PMID:
31843900
PMCID:
PMC6936554
See all PubMed Citations (3)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000600440.2

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

Last Updated: Oct 8, 2024