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NM_007294.4(BRCA1):c.84G>T (p.Leu28=) AND Hereditary breast ovarian cancer syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 1, 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:
RCV001254341.2

Allele description [Variation Report for NM_007294.4(BRCA1):c.84G>T (p.Leu28=)]

NM_007294.4(BRCA1):c.84G>T (p.Leu28=)

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.84G>T (p.Leu28=)
HGVS:
  • NC_000017.11:g.43115776C>A
  • NG_005905.2:g.102208G>T
  • NM_001407571.1:c.-105G>T
  • NM_001407581.1:c.84G>T
  • NM_001407582.1:c.84G>T
  • NM_001407583.1:c.84G>T
  • NM_001407585.1:c.84G>T
  • NM_001407587.1:c.84G>T
  • NM_001407590.1:c.84G>T
  • NM_001407591.1:c.84G>T
  • NM_001407593.1:c.84G>T
  • NM_001407594.1:c.84G>T
  • NM_001407596.1:c.84G>T
  • NM_001407597.1:c.84G>T
  • NM_001407598.1:c.84G>T
  • NM_001407602.1:c.84G>T
  • NM_001407603.1:c.84G>T
  • NM_001407605.1:c.84G>T
  • NM_001407610.1:c.84G>T
  • NM_001407611.1:c.84G>T
  • NM_001407612.1:c.84G>T
  • NM_001407613.1:c.84G>T
  • NM_001407614.1:c.84G>T
  • NM_001407615.1:c.84G>T
  • NM_001407616.1:c.84G>T
  • NM_001407617.1:c.84G>T
  • NM_001407618.1:c.84G>T
  • NM_001407619.1:c.84G>T
  • NM_001407620.1:c.84G>T
  • NM_001407621.1:c.84G>T
  • NM_001407622.1:c.84G>T
  • NM_001407623.1:c.84G>T
  • NM_001407624.1:c.84G>T
  • NM_001407625.1:c.84G>T
  • NM_001407626.1:c.84G>T
  • NM_001407627.1:c.84G>T
  • NM_001407628.1:c.84G>T
  • NM_001407629.1:c.84G>T
  • NM_001407630.1:c.84G>T
  • NM_001407631.1:c.84G>T
  • NM_001407632.1:c.84G>T
  • NM_001407633.1:c.84G>T
  • NM_001407634.1:c.84G>T
  • NM_001407635.1:c.84G>T
  • NM_001407636.1:c.84G>T
  • NM_001407637.1:c.84G>T
  • NM_001407638.1:c.84G>T
  • NM_001407639.1:c.84G>T
  • NM_001407640.1:c.84G>T
  • NM_001407641.1:c.84G>T
  • NM_001407642.1:c.84G>T
  • NM_001407644.1:c.84G>T
  • NM_001407645.1:c.84G>T
  • NM_001407646.1:c.84G>T
  • NM_001407647.1:c.84G>T
  • NM_001407648.1:c.84G>T
  • NM_001407649.1:c.84G>T
  • NM_001407652.1:c.84G>T
  • NM_001407653.1:c.84G>T
  • NM_001407654.1:c.84G>T
  • NM_001407655.1:c.84G>T
  • NM_001407656.1:c.84G>T
  • NM_001407657.1:c.84G>T
  • NM_001407658.1:c.84G>T
  • NM_001407659.1:c.84G>T
  • NM_001407660.1:c.84G>T
  • NM_001407661.1:c.84G>T
  • NM_001407662.1:c.84G>T
  • NM_001407663.1:c.84G>T
  • NM_001407664.1:c.84G>T
  • NM_001407665.1:c.84G>T
  • NM_001407666.1:c.84G>T
  • NM_001407667.1:c.84G>T
  • NM_001407668.1:c.84G>T
  • NM_001407669.1:c.84G>T
  • NM_001407670.1:c.84G>T
  • NM_001407671.1:c.84G>T
  • NM_001407672.1:c.84G>T
  • NM_001407673.1:c.84G>T
  • NM_001407674.1:c.84G>T
  • NM_001407675.1:c.84G>T
  • NM_001407676.1:c.84G>T
  • NM_001407677.1:c.84G>T
  • NM_001407678.1:c.84G>T
  • NM_001407679.1:c.84G>T
  • NM_001407680.1:c.84G>T
  • NM_001407681.1:c.84G>T
  • NM_001407682.1:c.84G>T
  • NM_001407683.1:c.84G>T
  • NM_001407684.1:c.84G>T
  • NM_001407685.1:c.84G>T
  • NM_001407686.1:c.84G>T
  • NM_001407687.1:c.84G>T
  • NM_001407688.1:c.84G>T
  • NM_001407689.1:c.84G>T
  • NM_001407690.1:c.84G>T
  • NM_001407691.1:c.84G>T
  • NM_001407692.1:c.-7-9243G>T
  • NM_001407694.1:c.-174G>T
  • NM_001407695.1:c.-178G>T
  • NM_001407696.1:c.-174G>T
  • NM_001407697.1:c.-58G>T
  • NM_001407698.1:c.-8+8241G>T
  • NM_001407724.1:c.-174G>T
  • NM_001407725.1:c.-58G>T
  • NM_001407726.1:c.-8+5782G>T
  • NM_001407727.1:c.-174G>T
  • NM_001407728.1:c.-58G>T
  • NM_001407729.1:c.-58G>T
  • NM_001407730.1:c.-58G>T
  • NM_001407731.1:c.-174G>T
  • NM_001407732.1:c.-8+8241G>T
  • NM_001407733.1:c.-174G>T
  • NM_001407734.1:c.-58G>T
  • NM_001407735.1:c.-58G>T
  • NM_001407736.1:c.-8+8241G>T
  • NM_001407737.1:c.-58G>T
  • NM_001407738.1:c.-8+8241G>T
  • NM_001407739.1:c.-58G>T
  • NM_001407740.1:c.-58G>T
  • NM_001407741.1:c.-58G>T
  • NM_001407742.1:c.-8+8241G>T
  • NM_001407743.1:c.-58G>T
  • NM_001407744.1:c.-8+8241G>T
  • NM_001407745.1:c.-58G>T
  • NM_001407746.1:c.-174G>T
  • NM_001407747.1:c.-7-9243G>T
  • NM_001407748.1:c.-58G>T
  • NM_001407749.1:c.-174G>T
  • NM_001407750.1:c.-8+8241G>T
  • NM_001407751.1:c.-8+5782G>T
  • NM_001407752.1:c.-58G>T
  • NM_001407838.1:c.-58G>T
  • NM_001407839.1:c.-58G>T
  • NM_001407841.1:c.-54G>T
  • NM_001407842.1:c.-174G>T
  • NM_001407843.1:c.-174G>T
  • NM_001407844.1:c.-58G>T
  • NM_001407845.1:c.-8+8241G>T
  • NM_001407846.1:c.-58G>T
  • NM_001407847.1:c.-58G>T
  • NM_001407848.1:c.-58G>T
  • NM_001407849.1:c.-8+8241G>T
  • NM_001407850.1:c.-58G>T
  • NM_001407851.1:c.-58G>T
  • NM_001407852.1:c.-8+8241G>T
  • NM_001407853.1:c.-105G>T
  • NM_001407854.1:c.84G>T
  • NM_001407858.1:c.84G>T
  • NM_001407859.1:c.84G>T
  • NM_001407860.1:c.84G>T
  • NM_001407861.1:c.84G>T
  • NM_001407862.1:c.84G>T
  • NM_001407863.1:c.84G>T
  • NM_001407874.1:c.84G>T
  • NM_001407875.1:c.84G>T
  • NM_001407879.1:c.-105G>T
  • NM_001407881.1:c.-55+8241G>T
  • NM_001407882.1:c.-105G>T
  • NM_001407884.1:c.-105G>T
  • NM_001407885.1:c.-105G>T
  • NM_001407886.1:c.-105G>T
  • NM_001407887.1:c.-105G>T
  • NM_001407889.1:c.-221G>T
  • NM_001407894.1:c.-105G>T
  • NM_001407895.1:c.-105G>T
  • NM_001407896.1:c.-105G>T
  • NM_001407897.1:c.-105G>T
  • NM_001407898.1:c.-55+8241G>T
  • NM_001407899.1:c.-105G>T
  • NM_001407900.1:c.-221G>T
  • NM_001407902.1:c.-55+8241G>T
  • NM_001407904.1:c.-105G>T
  • NM_001407906.1:c.-105G>T
  • NM_001407907.1:c.-105G>T
  • NM_001407908.1:c.-105G>T
  • NM_001407909.1:c.-105G>T
  • NM_001407910.1:c.-105G>T
  • NM_001407915.1:c.-105G>T
  • NM_001407916.1:c.-105G>T
  • NM_001407917.1:c.-105G>T
  • NM_001407918.1:c.-105G>T
  • NM_001407919.1:c.84G>T
  • NM_001407920.1:c.-58G>T
  • NM_001407921.1:c.-58G>T
  • NM_001407922.1:c.-58G>T
  • NM_001407923.1:c.-58G>T
  • NM_001407924.1:c.-8+8241G>T
  • NM_001407925.1:c.-8+8241G>T
  • NM_001407926.1:c.-58G>T
  • NM_001407927.1:c.-58G>T
  • NM_001407928.1:c.-8+8241G>T
  • NM_001407929.1:c.-8+8241G>T
  • NM_001407930.1:c.-174G>T
  • NM_001407931.1:c.-7-9243G>T
  • NM_001407932.1:c.-8+8241G>T
  • NM_001407933.1:c.-58G>T
  • NM_001407934.1:c.-58G>T
  • NM_001407935.1:c.-58G>T
  • NM_001407936.1:c.-8+8241G>T
  • NM_001407937.1:c.84G>T
  • NM_001407938.1:c.84G>T
  • NM_001407939.1:c.84G>T
  • NM_001407940.1:c.84G>T
  • NM_001407941.1:c.84G>T
  • NM_001407942.1:c.-174G>T
  • NM_001407943.1:c.-58G>T
  • NM_001407944.1:c.-58G>T
  • NM_001407945.1:c.-8+8241G>T
  • NM_001407946.1:c.-105G>T
  • NM_001407947.1:c.-105G>T
  • NM_001407948.1:c.-105G>T
  • NM_001407949.1:c.-105G>T
  • NM_001407950.1:c.-105G>T
  • NM_001407951.1:c.-105G>T
  • NM_001407952.1:c.-105G>T
  • NM_001407953.1:c.-105G>T
  • NM_001407954.1:c.-105G>T
  • NM_001407955.1:c.-105G>T
  • NM_001407956.1:c.-105G>T
  • NM_001407957.1:c.-105G>T
  • NM_001407958.1:c.-105G>T
  • NM_001407959.1:c.-170+9501G>T
  • NM_001407960.1:c.-220G>T
  • NM_001407962.1:c.-220G>T
  • NM_001407963.1:c.-170+9495G>T
  • NM_001407964.1:c.-58G>T
  • NM_001407965.1:c.-336G>T
  • NM_001407966.1:c.-219+9495G>T
  • NM_001407967.1:c.-219+9501G>T
  • NM_001407968.1:c.84G>T
  • NM_001407969.1:c.84G>T
  • NM_001407970.1:c.84G>T
  • NM_001407971.1:c.84G>T
  • NM_001407972.1:c.84G>T
  • NM_001407973.1:c.84G>T
  • NM_001407974.1:c.84G>T
  • NM_001407975.1:c.84G>T
  • NM_001407976.1:c.84G>T
  • NM_001407977.1:c.84G>T
  • NM_001407978.1:c.84G>T
  • NM_001407979.1:c.84G>T
  • NM_001407980.1:c.84G>T
  • NM_001407981.1:c.84G>T
  • NM_001407982.1:c.84G>T
  • NM_001407983.1:c.84G>T
  • NM_001407984.1:c.84G>T
  • NM_001407985.1:c.84G>T
  • NM_001407986.1:c.84G>T
  • NM_001407990.1:c.84G>T
  • NM_001407991.1:c.84G>T
  • NM_001407992.1:c.84G>T
  • NM_001407993.1:c.84G>T
  • NM_001408392.1:c.84G>T
  • NM_001408396.1:c.84G>T
  • NM_001408397.1:c.84G>T
  • NM_001408398.1:c.84G>T
  • NM_001408399.1:c.84G>T
  • NM_001408400.1:c.84G>T
  • NM_001408401.1:c.84G>T
  • NM_001408402.1:c.84G>T
  • NM_001408403.1:c.84G>T
  • NM_001408404.1:c.84G>T
  • NM_001408406.1:c.84G>T
  • NM_001408407.1:c.84G>T
  • NM_001408408.1:c.84G>T
  • NM_001408409.1:c.84G>T
  • NM_001408410.1:c.-58G>T
  • NM_001408411.1:c.84G>T
  • NM_001408412.1:c.84G>T
  • NM_001408413.1:c.84G>T
  • NM_001408414.1:c.84G>T
  • NM_001408415.1:c.84G>T
  • NM_001408416.1:c.84G>T
  • NM_001408418.1:c.84G>T
  • NM_001408419.1:c.84G>T
  • NM_001408420.1:c.84G>T
  • NM_001408421.1:c.84G>T
  • NM_001408422.1:c.84G>T
  • NM_001408423.1:c.84G>T
  • NM_001408424.1:c.84G>T
  • NM_001408425.1:c.84G>T
  • NM_001408426.1:c.84G>T
  • NM_001408427.1:c.84G>T
  • NM_001408428.1:c.84G>T
  • NM_001408429.1:c.84G>T
  • NM_001408430.1:c.84G>T
  • NM_001408431.1:c.84G>T
  • NM_001408432.1:c.84G>T
  • NM_001408433.1:c.84G>T
  • NM_001408434.1:c.84G>T
  • NM_001408435.1:c.84G>T
  • NM_001408436.1:c.84G>T
  • NM_001408437.1:c.84G>T
  • NM_001408438.1:c.84G>T
  • NM_001408439.1:c.84G>T
  • NM_001408440.1:c.84G>T
  • NM_001408441.1:c.84G>T
  • NM_001408442.1:c.84G>T
  • NM_001408443.1:c.84G>T
  • NM_001408444.1:c.84G>T
  • NM_001408445.1:c.84G>T
  • NM_001408446.1:c.84G>T
  • NM_001408447.1:c.84G>T
  • NM_001408448.1:c.84G>T
  • NM_001408450.1:c.84G>T
  • NM_001408451.1:c.80+8241G>T
  • NM_001408452.1:c.-58G>T
  • NM_001408453.1:c.-58G>T
  • NM_001408454.1:c.-8+8241G>T
  • NM_001408455.1:c.-174G>T
  • NM_001408456.1:c.-174G>T
  • NM_001408457.1:c.-7-9243G>T
  • NM_001408458.1:c.-58G>T
  • NM_001408459.1:c.-8+8241G>T
  • NM_001408460.1:c.-8+8241G>T
  • NM_001408461.1:c.-8+8241G>T
  • NM_001408462.1:c.-58G>T
  • NM_001408463.1:c.-58G>T
  • NM_001408464.1:c.-8+8241G>T
  • NM_001408465.1:c.-178G>T
  • NM_001408466.1:c.-58G>T
  • NM_001408467.1:c.-8+8241G>T
  • NM_001408468.1:c.-174G>T
  • NM_001408469.1:c.-58G>T
  • NM_001408470.1:c.-58G>T
  • NM_001408472.1:c.84G>T
  • NM_001408473.1:c.84G>T
  • NM_001408474.1:c.84G>T
  • NM_001408475.1:c.84G>T
  • NM_001408476.1:c.84G>T
  • NM_001408478.1:c.-105G>T
  • NM_001408479.1:c.-105G>T
  • NM_001408480.1:c.-105G>T
  • NM_001408481.1:c.-105G>T
  • NM_001408482.1:c.-105G>T
  • NM_001408483.1:c.-105G>T
  • NM_001408484.1:c.-105G>T
  • NM_001408485.1:c.-105G>T
  • NM_001408489.1:c.-105G>T
  • NM_001408490.1:c.-105G>T
  • NM_001408491.1:c.-105G>T
  • NM_001408492.1:c.-221G>T
  • NM_001408493.1:c.-105G>T
  • NM_001408494.1:c.84G>T
  • NM_001408495.1:c.84G>T
  • NM_001408496.1:c.-8+8241G>T
  • NM_001408497.1:c.-58G>T
  • NM_001408498.1:c.-8+8241G>T
  • NM_001408499.1:c.-58G>T
  • NM_001408500.1:c.-58G>T
  • NM_001408501.1:c.-174G>T
  • NM_001408502.1:c.-105G>T
  • NM_001408503.1:c.-58G>T
  • NM_001408504.1:c.-58G>T
  • NM_001408505.1:c.-58G>T
  • NM_001408506.1:c.-105G>T
  • NM_001408507.1:c.-105G>T
  • NM_001408508.1:c.-105G>T
  • NM_001408509.1:c.-105G>T
  • NM_001408510.1:c.-220G>T
  • NM_001408511.1:c.-7-9243G>T
  • NM_001408512.1:c.-220G>T
  • NM_001408513.1:c.-105G>T
  • NM_001408514.1:c.-105G>T
  • NM_007294.4:c.84G>TMANE SELECT
  • NM_007297.4:c.-8+8241G>T
  • NM_007298.4:c.84G>T
  • NM_007299.4:c.84G>T
  • NM_007300.4:c.84G>T
  • NM_007304.2:c.84G>T
  • NP_001394510.1:p.Leu28=
  • NP_001394511.1:p.Leu28=
  • NP_001394512.1:p.Leu28=
  • NP_001394514.1:p.Leu28=
  • NP_001394516.1:p.Leu28=
  • NP_001394519.1:p.Leu28=
  • NP_001394520.1:p.Leu28=
  • NP_001394522.1:p.Leu28=
  • NP_001394523.1:p.Leu28=
  • NP_001394525.1:p.Leu28=
  • NP_001394526.1:p.Leu28=
  • NP_001394527.1:p.Leu28=
  • NP_001394531.1:p.Leu28=
  • NP_001394532.1:p.Leu28=
  • NP_001394534.1:p.Leu28=
  • NP_001394539.1:p.Leu28=
  • NP_001394540.1:p.Leu28=
  • NP_001394541.1:p.Leu28=
  • NP_001394542.1:p.Leu28=
  • NP_001394543.1:p.Leu28=
  • NP_001394544.1:p.Leu28=
  • NP_001394545.1:p.Leu28=
  • NP_001394546.1:p.Leu28=
  • NP_001394547.1:p.Leu28=
  • NP_001394548.1:p.Leu28=
  • NP_001394549.1:p.Leu28=
  • NP_001394550.1:p.Leu28=
  • NP_001394551.1:p.Leu28=
  • NP_001394552.1:p.Leu28=
  • NP_001394553.1:p.Leu28=
  • NP_001394554.1:p.Leu28=
  • NP_001394555.1:p.Leu28=
  • NP_001394556.1:p.Leu28=
  • NP_001394557.1:p.Leu28=
  • NP_001394558.1:p.Leu28=
  • NP_001394559.1:p.Leu28=
  • NP_001394560.1:p.Leu28=
  • NP_001394561.1:p.Leu28=
  • NP_001394562.1:p.Leu28=
  • NP_001394563.1:p.Leu28=
  • NP_001394564.1:p.Leu28=
  • NP_001394565.1:p.Leu28=
  • NP_001394566.1:p.Leu28=
  • NP_001394567.1:p.Leu28=
  • NP_001394568.1:p.Leu28=
  • NP_001394569.1:p.Leu28=
  • NP_001394570.1:p.Leu28=
  • NP_001394571.1:p.Leu28=
  • NP_001394573.1:p.Leu28=
  • NP_001394574.1:p.Leu28=
  • NP_001394575.1:p.Leu28=
  • NP_001394576.1:p.Leu28=
  • NP_001394577.1:p.Leu28=
  • NP_001394578.1:p.Leu28=
  • NP_001394581.1:p.Leu28=
  • NP_001394582.1:p.Leu28=
  • NP_001394583.1:p.Leu28=
  • NP_001394584.1:p.Leu28=
  • NP_001394585.1:p.Leu28=
  • NP_001394586.1:p.Leu28=
  • NP_001394587.1:p.Leu28=
  • NP_001394588.1:p.Leu28=
  • NP_001394589.1:p.Leu28=
  • NP_001394590.1:p.Leu28=
  • NP_001394591.1:p.Leu28=
  • NP_001394592.1:p.Leu28=
  • NP_001394593.1:p.Leu28=
  • NP_001394594.1:p.Leu28=
  • NP_001394595.1:p.Leu28=
  • NP_001394596.1:p.Leu28=
  • NP_001394597.1:p.Leu28=
  • NP_001394598.1:p.Leu28=
  • NP_001394599.1:p.Leu28=
  • NP_001394600.1:p.Leu28=
  • NP_001394601.1:p.Leu28=
  • NP_001394602.1:p.Leu28=
  • NP_001394603.1:p.Leu28=
  • NP_001394604.1:p.Leu28=
  • NP_001394605.1:p.Leu28=
  • NP_001394606.1:p.Leu28=
  • NP_001394607.1:p.Leu28=
  • NP_001394608.1:p.Leu28=
  • NP_001394609.1:p.Leu28=
  • NP_001394610.1:p.Leu28=
  • NP_001394611.1:p.Leu28=
  • NP_001394612.1:p.Leu28=
  • NP_001394613.1:p.Leu28=
  • NP_001394614.1:p.Leu28=
  • NP_001394615.1:p.Leu28=
  • NP_001394616.1:p.Leu28=
  • NP_001394617.1:p.Leu28=
  • NP_001394618.1:p.Leu28=
  • NP_001394619.1:p.Leu28=
  • NP_001394620.1:p.Leu28=
  • NP_001394783.1:p.Leu28=
  • NP_001394787.1:p.Leu28=
  • NP_001394788.1:p.Leu28=
  • NP_001394789.1:p.Leu28=
  • NP_001394790.1:p.Leu28=
  • NP_001394791.1:p.Leu28=
  • NP_001394792.1:p.Leu28=
  • NP_001394803.1:p.Leu28=
  • NP_001394804.1:p.Leu28=
  • NP_001394848.1:p.Leu28=
  • NP_001394866.1:p.Leu28=
  • NP_001394867.1:p.Leu28=
  • NP_001394868.1:p.Leu28=
  • NP_001394869.1:p.Leu28=
  • NP_001394870.1:p.Leu28=
  • NP_001394897.1:p.Leu28=
  • NP_001394898.1:p.Leu28=
  • NP_001394899.1:p.Leu28=
  • NP_001394900.1:p.Leu28=
  • NP_001394901.1:p.Leu28=
  • NP_001394902.1:p.Leu28=
  • NP_001394903.1:p.Leu28=
  • NP_001394904.1:p.Leu28=
  • NP_001394905.1:p.Leu28=
  • NP_001394906.1:p.Leu28=
  • NP_001394907.1:p.Leu28=
  • NP_001394908.1:p.Leu28=
  • NP_001394909.1:p.Leu28=
  • NP_001394910.1:p.Leu28=
  • NP_001394911.1:p.Leu28=
  • NP_001394912.1:p.Leu28=
  • NP_001394913.1:p.Leu28=
  • NP_001394914.1:p.Leu28=
  • NP_001394915.1:p.Leu28=
  • NP_001394919.1:p.Leu28=
  • NP_001394920.1:p.Leu28=
  • NP_001394921.1:p.Leu28=
  • NP_001394922.1:p.Leu28=
  • NP_001395321.1:p.Leu28=
  • NP_001395325.1:p.Leu28=
  • NP_001395326.1:p.Leu28=
  • NP_001395327.1:p.Leu28=
  • NP_001395328.1:p.Leu28=
  • NP_001395329.1:p.Leu28=
  • NP_001395330.1:p.Leu28=
  • NP_001395331.1:p.Leu28=
  • NP_001395332.1:p.Leu28=
  • NP_001395333.1:p.Leu28=
  • NP_001395335.1:p.Leu28=
  • NP_001395336.1:p.Leu28=
  • NP_001395337.1:p.Leu28=
  • NP_001395338.1:p.Leu28=
  • NP_001395340.1:p.Leu28=
  • NP_001395341.1:p.Leu28=
  • NP_001395342.1:p.Leu28=
  • NP_001395343.1:p.Leu28=
  • NP_001395344.1:p.Leu28=
  • NP_001395345.1:p.Leu28=
  • NP_001395347.1:p.Leu28=
  • NP_001395348.1:p.Leu28=
  • NP_001395349.1:p.Leu28=
  • NP_001395350.1:p.Leu28=
  • NP_001395351.1:p.Leu28=
  • NP_001395352.1:p.Leu28=
  • NP_001395353.1:p.Leu28=
  • NP_001395354.1:p.Leu28=
  • NP_001395355.1:p.Leu28=
  • NP_001395356.1:p.Leu28=
  • NP_001395357.1:p.Leu28=
  • NP_001395358.1:p.Leu28=
  • NP_001395359.1:p.Leu28=
  • NP_001395360.1:p.Leu28=
  • NP_001395361.1:p.Leu28=
  • NP_001395362.1:p.Leu28=
  • NP_001395363.1:p.Leu28=
  • NP_001395364.1:p.Leu28=
  • NP_001395365.1:p.Leu28=
  • NP_001395366.1:p.Leu28=
  • NP_001395367.1:p.Leu28=
  • NP_001395368.1:p.Leu28=
  • NP_001395369.1:p.Leu28=
  • NP_001395370.1:p.Leu28=
  • NP_001395371.1:p.Leu28=
  • NP_001395372.1:p.Leu28=
  • NP_001395373.1:p.Leu28=
  • NP_001395374.1:p.Leu28=
  • NP_001395375.1:p.Leu28=
  • NP_001395376.1:p.Leu28=
  • NP_001395377.1:p.Leu28=
  • NP_001395379.1:p.Leu28=
  • NP_001395401.1:p.Leu28=
  • NP_001395402.1:p.Leu28=
  • NP_001395403.1:p.Leu28=
  • NP_001395404.1:p.Leu28=
  • NP_001395405.1:p.Leu28=
  • NP_001395423.1:p.Leu28=
  • NP_001395424.1:p.Leu28=
  • NP_009225.1:p.Leu28=
  • NP_009225.1:p.Leu28=
  • NP_009229.2:p.Leu28=
  • NP_009230.2:p.Leu28=
  • NP_009231.2:p.Leu28=
  • NP_009235.2:p.Leu28=
  • LRG_292t1:c.84G>T
  • LRG_292:g.102208G>T
  • LRG_292p1:p.Leu28=
  • NC_000017.10:g.41267793C>A
  • NM_007294.3:c.84G>T
  • NR_027676.2:n.286G>T
Links:
dbSNP: rs1555599278
NCBI 1000 Genomes Browser:
rs1555599278
Molecular consequence:
  • NM_001407571.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407694.1:c.-174G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407695.1:c.-178G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407696.1:c.-174G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407697.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407724.1:c.-174G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407725.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407727.1:c.-174G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407728.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407729.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407730.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407731.1:c.-174G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407733.1:c.-174G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407734.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407735.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407737.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407739.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407740.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407741.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407743.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407745.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407746.1:c.-174G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407748.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407749.1:c.-174G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407752.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407838.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407839.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407841.1:c.-54G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407842.1:c.-174G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407843.1:c.-174G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407844.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407846.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407847.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407848.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407850.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407851.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407853.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407879.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407882.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407884.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407885.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407886.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407887.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407889.1:c.-221G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407894.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407895.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407896.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407897.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407899.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407900.1:c.-221G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407904.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407906.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407907.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407908.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407909.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407910.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407915.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407916.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407917.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407918.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407920.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407921.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407922.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407923.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407926.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407927.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407930.1:c.-174G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407933.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407934.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407935.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407942.1:c.-174G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407943.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407944.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407946.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407947.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407948.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407949.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407950.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407951.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407952.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407953.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407954.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407955.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407956.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407957.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407958.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407960.1:c.-220G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407962.1:c.-220G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407964.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407965.1:c.-336G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408410.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408452.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408453.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408455.1:c.-174G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408456.1:c.-174G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408458.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408462.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408463.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408465.1:c.-178G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408466.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408468.1:c.-174G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408469.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408470.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408478.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408479.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408480.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408481.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408482.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408483.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408484.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408485.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408489.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408490.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408491.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408492.1:c.-221G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408493.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408497.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408499.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408500.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408501.1:c.-174G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408502.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408503.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408504.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408505.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408506.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408507.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408508.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408509.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408510.1:c.-220G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408512.1:c.-220G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408513.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001408514.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407692.1:c.-7-9243G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407698.1:c.-8+8241G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407726.1:c.-8+5782G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407732.1:c.-8+8241G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407736.1:c.-8+8241G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407738.1:c.-8+8241G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407742.1:c.-8+8241G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407744.1:c.-8+8241G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407747.1:c.-7-9243G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407750.1:c.-8+8241G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407751.1:c.-8+5782G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407845.1:c.-8+8241G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407849.1:c.-8+8241G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407852.1:c.-8+8241G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407881.1:c.-55+8241G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407898.1:c.-55+8241G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407902.1:c.-55+8241G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407924.1:c.-8+8241G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407925.1:c.-8+8241G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407928.1:c.-8+8241G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407929.1:c.-8+8241G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407931.1:c.-7-9243G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407932.1:c.-8+8241G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407936.1:c.-8+8241G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407945.1:c.-8+8241G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407959.1:c.-170+9501G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407963.1:c.-170+9495G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407966.1:c.-219+9495G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407967.1:c.-219+9501G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.80+8241G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.-8+8241G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.-7-9243G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.-8+8241G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.-8+8241G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.-8+8241G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.-8+8241G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.-8+8241G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.-8+8241G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.-8+8241G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.-7-9243G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007297.4:c.-8+8241G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407581.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407582.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407583.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407585.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407587.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407590.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407591.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407593.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407594.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407596.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407597.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407598.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407602.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407603.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407605.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407610.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407611.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407612.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407613.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407614.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407615.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407616.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407617.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407618.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407619.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407620.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407621.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407622.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407623.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407624.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407625.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407626.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407627.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407628.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407629.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407630.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407631.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407632.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407633.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407634.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407635.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407636.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407637.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407638.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407639.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407640.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407641.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407642.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407644.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407645.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407646.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407647.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407648.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407649.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407652.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407653.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407654.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407655.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407656.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407657.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407658.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407659.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407660.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407661.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407662.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407663.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407664.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407665.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407666.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407667.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407668.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407669.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407670.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407671.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407672.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407673.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407674.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407675.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407676.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407677.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407678.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407679.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407680.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407681.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407682.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407683.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407684.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407685.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407686.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407687.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407688.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407689.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407690.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407691.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407854.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407858.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407859.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407860.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407861.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407862.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407863.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407874.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407875.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407919.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407937.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407938.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407939.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407940.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407941.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407968.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407969.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407970.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407971.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407972.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407973.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407974.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407975.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407976.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407977.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407978.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407979.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407980.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407981.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407982.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407983.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407984.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407985.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407986.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407990.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407991.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407992.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407993.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408392.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408396.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408397.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408398.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408399.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408400.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408401.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408402.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408403.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408404.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408406.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408407.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408408.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408409.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408411.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408412.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408413.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408414.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408415.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408416.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408418.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408419.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408420.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408421.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408422.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408423.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408424.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408425.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408426.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408427.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408428.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408429.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408430.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408431.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408432.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408433.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408434.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408435.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408436.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408437.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408438.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408439.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408440.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408441.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408442.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408443.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408444.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408445.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408446.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408447.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408448.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408450.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408472.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408473.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408474.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408475.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408476.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408494.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001408495.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_007294.4:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_007298.4:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_007299.4:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_007300.4:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_007304.2:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
Functional consequence:
functionally_normal [Sequence Ontology: SO:0002219] - Comment(s)
Observations:
1

Condition(s)

Name:
Hereditary breast ovarian cancer syndrome
Synonyms:
Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001430327Breast Center, Key Laboratory of Carcinogenesis and Translational Research
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(May 1, 2020) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Chinesegermlineunknown1not 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

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Breast Center, Key Laboratory of Carcinogenesis and Translational Research, SCV001430327.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Chinese1not providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Jul 15, 2024