NM_007294.4(BRCA1):c.4445A>G (p.Asp1482Gly) AND Hereditary breast ovarian cancer syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 19, 2021
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:
RCV001309906.15

Allele description [Variation Report for NM_007294.4(BRCA1):c.4445A>G (p.Asp1482Gly)]

NM_007294.4(BRCA1):c.4445A>G (p.Asp1482Gly)

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.4445A>G (p.Asp1482Gly)
HGVS:
  • NC_000017.11:g.43076527T>C
  • NG_005905.2:g.141457A>G
  • NM_001407571.1:c.4232A>G
  • NM_001407581.1:c.4511A>G
  • NM_001407582.1:c.4511A>G
  • NM_001407583.1:c.4508A>G
  • NM_001407585.1:c.4508A>G
  • NM_001407587.1:c.4508A>G
  • NM_001407590.1:c.4505A>G
  • NM_001407591.1:c.4505A>G
  • NM_001407593.1:c.4445A>G
  • NM_001407594.1:c.4445A>G
  • NM_001407596.1:c.4445A>G
  • NM_001407597.1:c.4445A>G
  • NM_001407598.1:c.4445A>G
  • NM_001407602.1:c.4445A>G
  • NM_001407603.1:c.4445A>G
  • NM_001407605.1:c.4445A>G
  • NM_001407610.1:c.4442A>G
  • NM_001407611.1:c.4442A>G
  • NM_001407612.1:c.4442A>G
  • NM_001407613.1:c.4442A>G
  • NM_001407614.1:c.4442A>G
  • NM_001407615.1:c.4442A>G
  • NM_001407616.1:c.4442A>G
  • NM_001407617.1:c.4442A>G
  • NM_001407618.1:c.4442A>G
  • NM_001407619.1:c.4442A>G
  • NM_001407620.1:c.4442A>G
  • NM_001407621.1:c.4442A>G
  • NM_001407622.1:c.4442A>G
  • NM_001407623.1:c.4442A>G
  • NM_001407624.1:c.4442A>G
  • NM_001407625.1:c.4442A>G
  • NM_001407626.1:c.4442A>G
  • NM_001407627.1:c.4439A>G
  • NM_001407628.1:c.4439A>G
  • NM_001407629.1:c.4439A>G
  • NM_001407630.1:c.4439A>G
  • NM_001407631.1:c.4439A>G
  • NM_001407632.1:c.4439A>G
  • NM_001407633.1:c.4439A>G
  • NM_001407634.1:c.4439A>G
  • NM_001407635.1:c.4439A>G
  • NM_001407636.1:c.4439A>G
  • NM_001407637.1:c.4439A>G
  • NM_001407638.1:c.4439A>G
  • NM_001407639.1:c.4439A>G
  • NM_001407640.1:c.4439A>G
  • NM_001407641.1:c.4439A>G
  • NM_001407642.1:c.4439A>G
  • NM_001407644.1:c.4436A>G
  • NM_001407645.1:c.4436A>G
  • NM_001407646.1:c.4433A>G
  • NM_001407647.1:c.4430A>G
  • NM_001407648.1:c.4388A>G
  • NM_001407649.1:c.4385A>G
  • NM_001407652.1:c.4445A>G
  • NM_001407653.1:c.4367A>G
  • NM_001407654.1:c.4367A>G
  • NM_001407655.1:c.4367A>G
  • NM_001407656.1:c.4364A>G
  • NM_001407657.1:c.4364A>G
  • NM_001407658.1:c.4364A>G
  • NM_001407659.1:c.4361A>G
  • NM_001407660.1:c.4361A>G
  • NM_001407661.1:c.4361A>G
  • NM_001407662.1:c.4361A>G
  • NM_001407663.1:c.4361A>G
  • NM_001407664.1:c.4322A>G
  • NM_001407665.1:c.4322A>G
  • NM_001407666.1:c.4322A>G
  • NM_001407667.1:c.4322A>G
  • NM_001407668.1:c.4322A>G
  • NM_001407669.1:c.4322A>G
  • NM_001407670.1:c.4319A>G
  • NM_001407671.1:c.4319A>G
  • NM_001407672.1:c.4319A>G
  • NM_001407673.1:c.4319A>G
  • NM_001407674.1:c.4319A>G
  • NM_001407675.1:c.4319A>G
  • NM_001407676.1:c.4319A>G
  • NM_001407677.1:c.4319A>G
  • NM_001407678.1:c.4319A>G
  • NM_001407679.1:c.4319A>G
  • NM_001407680.1:c.4319A>G
  • NM_001407681.1:c.4316A>G
  • NM_001407682.1:c.4316A>G
  • NM_001407683.1:c.4316A>G
  • NM_001407684.1:c.4445A>G
  • NM_001407685.1:c.4316A>G
  • NM_001407686.1:c.4316A>G
  • NM_001407687.1:c.4316A>G
  • NM_001407688.1:c.4316A>G
  • NM_001407689.1:c.4316A>G
  • NM_001407690.1:c.4313A>G
  • NM_001407691.1:c.4313A>G
  • NM_001407692.1:c.4304A>G
  • NM_001407694.1:c.4304A>G
  • NM_001407695.1:c.4304A>G
  • NM_001407696.1:c.4304A>G
  • NM_001407697.1:c.4304A>G
  • NM_001407698.1:c.4304A>G
  • NM_001407724.1:c.4304A>G
  • NM_001407725.1:c.4304A>G
  • NM_001407726.1:c.4304A>G
  • NM_001407727.1:c.4304A>G
  • NM_001407728.1:c.4304A>G
  • NM_001407729.1:c.4304A>G
  • NM_001407730.1:c.4304A>G
  • NM_001407731.1:c.4304A>G
  • NM_001407732.1:c.4301A>G
  • NM_001407733.1:c.4301A>G
  • NM_001407734.1:c.4301A>G
  • NM_001407735.1:c.4301A>G
  • NM_001407736.1:c.4301A>G
  • NM_001407737.1:c.4301A>G
  • NM_001407738.1:c.4301A>G
  • NM_001407739.1:c.4301A>G
  • NM_001407740.1:c.4301A>G
  • NM_001407741.1:c.4301A>G
  • NM_001407742.1:c.4301A>G
  • NM_001407743.1:c.4301A>G
  • NM_001407744.1:c.4301A>G
  • NM_001407745.1:c.4301A>G
  • NM_001407746.1:c.4301A>G
  • NM_001407747.1:c.4301A>G
  • NM_001407748.1:c.4301A>G
  • NM_001407749.1:c.4301A>G
  • NM_001407750.1:c.4301A>G
  • NM_001407751.1:c.4301A>G
  • NM_001407752.1:c.4301A>G
  • NM_001407838.1:c.4298A>G
  • NM_001407839.1:c.4298A>G
  • NM_001407841.1:c.4298A>G
  • NM_001407842.1:c.4298A>G
  • NM_001407843.1:c.4298A>G
  • NM_001407844.1:c.4298A>G
  • NM_001407845.1:c.4298A>G
  • NM_001407846.1:c.4298A>G
  • NM_001407847.1:c.4298A>G
  • NM_001407848.1:c.4298A>G
  • NM_001407849.1:c.4298A>G
  • NM_001407850.1:c.4298A>G
  • NM_001407851.1:c.4298A>G
  • NM_001407852.1:c.4298A>G
  • NM_001407853.1:c.4298A>G
  • NM_001407854.1:c.4445A>G
  • NM_001407858.1:c.4442A>G
  • NM_001407859.1:c.4442A>G
  • NM_001407860.1:c.4442A>G
  • NM_001407861.1:c.4439A>G
  • NM_001407862.1:c.4244A>G
  • NM_001407863.1:c.4319A>G
  • NM_001407874.1:c.4238A>G
  • NM_001407875.1:c.4238A>G
  • NM_001407879.1:c.4235A>G
  • NM_001407881.1:c.4235A>G
  • NM_001407882.1:c.4235A>G
  • NM_001407884.1:c.4235A>G
  • NM_001407885.1:c.4235A>G
  • NM_001407886.1:c.4235A>G
  • NM_001407887.1:c.4235A>G
  • NM_001407889.1:c.4235A>G
  • NM_001407894.1:c.4232A>G
  • NM_001407895.1:c.4232A>G
  • NM_001407896.1:c.4232A>G
  • NM_001407897.1:c.4232A>G
  • NM_001407898.1:c.4232A>G
  • NM_001407899.1:c.4232A>G
  • NM_001407900.1:c.4232A>G
  • NM_001407902.1:c.4232A>G
  • NM_001407904.1:c.4232A>G
  • NM_001407906.1:c.4232A>G
  • NM_001407907.1:c.4232A>G
  • NM_001407908.1:c.4232A>G
  • NM_001407909.1:c.4232A>G
  • NM_001407910.1:c.4232A>G
  • NM_001407915.1:c.4229A>G
  • NM_001407916.1:c.4229A>G
  • NM_001407917.1:c.4229A>G
  • NM_001407918.1:c.4229A>G
  • NM_001407919.1:c.4322A>G
  • NM_001407920.1:c.4181A>G
  • NM_001407921.1:c.4181A>G
  • NM_001407922.1:c.4181A>G
  • NM_001407923.1:c.4181A>G
  • NM_001407924.1:c.4181A>G
  • NM_001407925.1:c.4181A>G
  • NM_001407926.1:c.4181A>G
  • NM_001407927.1:c.4178A>G
  • NM_001407928.1:c.4178A>G
  • NM_001407929.1:c.4178A>G
  • NM_001407930.1:c.4178A>G
  • NM_001407931.1:c.4178A>G
  • NM_001407932.1:c.4178A>G
  • NM_001407933.1:c.4178A>G
  • NM_001407934.1:c.4175A>G
  • NM_001407935.1:c.4175A>G
  • NM_001407936.1:c.4175A>G
  • NM_001407937.1:c.4322A>G
  • NM_001407938.1:c.4322A>G
  • NM_001407939.1:c.4319A>G
  • NM_001407940.1:c.4319A>G
  • NM_001407941.1:c.4316A>G
  • NM_001407942.1:c.4304A>G
  • NM_001407943.1:c.4301A>G
  • NM_001407944.1:c.4301A>G
  • NM_001407945.1:c.4301A>G
  • NM_001407946.1:c.4112A>G
  • NM_001407947.1:c.4112A>G
  • NM_001407948.1:c.4112A>G
  • NM_001407949.1:c.4112A>G
  • NM_001407950.1:c.4109A>G
  • NM_001407951.1:c.4109A>G
  • NM_001407952.1:c.4109A>G
  • NM_001407953.1:c.4109A>G
  • NM_001407954.1:c.4109A>G
  • NM_001407955.1:c.4109A>G
  • NM_001407956.1:c.4106A>G
  • NM_001407957.1:c.4106A>G
  • NM_001407958.1:c.4106A>G
  • NM_001407959.1:c.4064A>G
  • NM_001407960.1:c.4061A>G
  • NM_001407962.1:c.4061A>G
  • NM_001407963.1:c.4058A>G
  • NM_001407965.1:c.3938A>G
  • NM_001407966.1:c.3557A>G
  • NM_001407967.1:c.3554A>G
  • NM_001407968.1:c.1841A>G
  • NM_001407969.1:c.1838A>G
  • NM_001407970.1:c.1202A>G
  • NM_001407971.1:c.1202A>G
  • NM_001407972.1:c.1199A>G
  • NM_001407973.1:c.1136A>G
  • NM_001407974.1:c.1136A>G
  • NM_001407975.1:c.1136A>G
  • NM_001407976.1:c.1136A>G
  • NM_001407977.1:c.1136A>G
  • NM_001407978.1:c.1136A>G
  • NM_001407979.1:c.1133A>G
  • NM_001407980.1:c.1133A>G
  • NM_001407981.1:c.1133A>G
  • NM_001407982.1:c.1133A>G
  • NM_001407983.1:c.1133A>G
  • NM_001407984.1:c.1133A>G
  • NM_001407985.1:c.1133A>G
  • NM_001407986.1:c.1133A>G
  • NM_001407990.1:c.1133A>G
  • NM_001407991.1:c.1133A>G
  • NM_001407992.1:c.1133A>G
  • NM_001407993.1:c.1133A>G
  • NM_001408392.1:c.1130A>G
  • NM_001408396.1:c.1130A>G
  • NM_001408397.1:c.1130A>G
  • NM_001408398.1:c.1130A>G
  • NM_001408399.1:c.1130A>G
  • NM_001408400.1:c.1130A>G
  • NM_001408401.1:c.1130A>G
  • NM_001408402.1:c.1130A>G
  • NM_001408403.1:c.1130A>G
  • NM_001408404.1:c.1130A>G
  • NM_001408406.1:c.1127A>G
  • NM_001408407.1:c.1127A>G
  • NM_001408408.1:c.1127A>G
  • NM_001408409.1:c.1124A>G
  • NM_001408410.1:c.1061A>G
  • NM_001408411.1:c.1058A>G
  • NM_001408412.1:c.1055A>G
  • NM_001408413.1:c.1055A>G
  • NM_001408414.1:c.1055A>G
  • NM_001408415.1:c.1055A>G
  • NM_001408416.1:c.1055A>G
  • NM_001408418.1:c.1019A>G
  • NM_001408419.1:c.1019A>G
  • NM_001408420.1:c.1019A>G
  • NM_001408421.1:c.1016A>G
  • NM_001408422.1:c.1016A>G
  • NM_001408423.1:c.1016A>G
  • NM_001408424.1:c.1016A>G
  • NM_001408425.1:c.1013A>G
  • NM_001408426.1:c.1013A>G
  • NM_001408427.1:c.1013A>G
  • NM_001408428.1:c.1013A>G
  • NM_001408429.1:c.1013A>G
  • NM_001408430.1:c.1013A>G
  • NM_001408431.1:c.1013A>G
  • NM_001408432.1:c.1010A>G
  • NM_001408433.1:c.1010A>G
  • NM_001408434.1:c.1010A>G
  • NM_001408435.1:c.1010A>G
  • NM_001408436.1:c.1010A>G
  • NM_001408437.1:c.1010A>G
  • NM_001408438.1:c.1010A>G
  • NM_001408439.1:c.1010A>G
  • NM_001408440.1:c.1010A>G
  • NM_001408441.1:c.1010A>G
  • NM_001408442.1:c.1010A>G
  • NM_001408443.1:c.1010A>G
  • NM_001408444.1:c.1010A>G
  • NM_001408445.1:c.1007A>G
  • NM_001408446.1:c.1007A>G
  • NM_001408447.1:c.1007A>G
  • NM_001408448.1:c.1007A>G
  • NM_001408450.1:c.1007A>G
  • NM_001408451.1:c.1001A>G
  • NM_001408452.1:c.995A>G
  • NM_001408453.1:c.995A>G
  • NM_001408454.1:c.995A>G
  • NM_001408455.1:c.995A>G
  • NM_001408456.1:c.995A>G
  • NM_001408457.1:c.995A>G
  • NM_001408458.1:c.992A>G
  • NM_001408459.1:c.992A>G
  • NM_001408460.1:c.992A>G
  • NM_001408461.1:c.992A>G
  • NM_001408462.1:c.992A>G
  • NM_001408463.1:c.992A>G
  • NM_001408464.1:c.992A>G
  • NM_001408465.1:c.992A>G
  • NM_001408466.1:c.992A>G
  • NM_001408467.1:c.992A>G
  • NM_001408468.1:c.989A>G
  • NM_001408469.1:c.989A>G
  • NM_001408470.1:c.989A>G
  • NM_001408472.1:c.1133A>G
  • NM_001408473.1:c.1130A>G
  • NM_001408474.1:c.935A>G
  • NM_001408475.1:c.932A>G
  • NM_001408476.1:c.932A>G
  • NM_001408478.1:c.926A>G
  • NM_001408479.1:c.926A>G
  • NM_001408480.1:c.926A>G
  • NM_001408481.1:c.923A>G
  • NM_001408482.1:c.923A>G
  • NM_001408483.1:c.923A>G
  • NM_001408484.1:c.923A>G
  • NM_001408485.1:c.923A>G
  • NM_001408489.1:c.923A>G
  • NM_001408490.1:c.923A>G
  • NM_001408491.1:c.923A>G
  • NM_001408492.1:c.920A>G
  • NM_001408493.1:c.920A>G
  • NM_001408494.1:c.896A>G
  • NM_001408495.1:c.890A>G
  • NM_001408496.1:c.872A>G
  • NM_001408497.1:c.872A>G
  • NM_001408498.1:c.872A>G
  • NM_001408499.1:c.872A>G
  • NM_001408500.1:c.872A>G
  • NM_001408501.1:c.872A>G
  • NM_001408502.1:c.869A>G
  • NM_001408503.1:c.869A>G
  • NM_001408504.1:c.869A>G
  • NM_001408505.1:c.866A>G
  • NM_001408506.1:c.809A>G
  • NM_001408507.1:c.806A>G
  • NM_001408508.1:c.797A>G
  • NM_001408509.1:c.794A>G
  • NM_001408510.1:c.755A>G
  • NM_001408511.1:c.752A>G
  • NM_001408512.1:c.632A>G
  • NM_007294.4:c.4445A>GMANE SELECT
  • NM_007297.4:c.4304A>G
  • NM_007298.4:c.1133A>G
  • NM_007299.4:c.1133A>G
  • NM_007300.4:c.4508A>G
  • NM_007304.2:c.1133A>G
  • NP_001394500.1:p.Asp1411Gly
  • NP_001394510.1:p.Asp1504Gly
  • NP_001394511.1:p.Asp1504Gly
  • NP_001394512.1:p.Asp1503Gly
  • NP_001394514.1:p.Asp1503Gly
  • NP_001394516.1:p.Asp1503Gly
  • NP_001394519.1:p.Asp1502Gly
  • NP_001394520.1:p.Asp1502Gly
  • NP_001394522.1:p.Asp1482Gly
  • NP_001394523.1:p.Asp1482Gly
  • NP_001394525.1:p.Asp1482Gly
  • NP_001394526.1:p.Asp1482Gly
  • NP_001394527.1:p.Asp1482Gly
  • NP_001394531.1:p.Asp1482Gly
  • NP_001394532.1:p.Asp1482Gly
  • NP_001394534.1:p.Asp1482Gly
  • NP_001394539.1:p.Asp1481Gly
  • NP_001394540.1:p.Asp1481Gly
  • NP_001394541.1:p.Asp1481Gly
  • NP_001394542.1:p.Asp1481Gly
  • NP_001394543.1:p.Asp1481Gly
  • NP_001394544.1:p.Asp1481Gly
  • NP_001394545.1:p.Asp1481Gly
  • NP_001394546.1:p.Asp1481Gly
  • NP_001394547.1:p.Asp1481Gly
  • NP_001394548.1:p.Asp1481Gly
  • NP_001394549.1:p.Asp1481Gly
  • NP_001394550.1:p.Asp1481Gly
  • NP_001394551.1:p.Asp1481Gly
  • NP_001394552.1:p.Asp1481Gly
  • NP_001394553.1:p.Asp1481Gly
  • NP_001394554.1:p.Asp1481Gly
  • NP_001394555.1:p.Asp1481Gly
  • NP_001394556.1:p.Asp1480Gly
  • NP_001394557.1:p.Asp1480Gly
  • NP_001394558.1:p.Asp1480Gly
  • NP_001394559.1:p.Asp1480Gly
  • NP_001394560.1:p.Asp1480Gly
  • NP_001394561.1:p.Asp1480Gly
  • NP_001394562.1:p.Asp1480Gly
  • NP_001394563.1:p.Asp1480Gly
  • NP_001394564.1:p.Asp1480Gly
  • NP_001394565.1:p.Asp1480Gly
  • NP_001394566.1:p.Asp1480Gly
  • NP_001394567.1:p.Asp1480Gly
  • NP_001394568.1:p.Asp1480Gly
  • NP_001394569.1:p.Asp1480Gly
  • NP_001394570.1:p.Asp1480Gly
  • NP_001394571.1:p.Asp1480Gly
  • NP_001394573.1:p.Asp1479Gly
  • NP_001394574.1:p.Asp1479Gly
  • NP_001394575.1:p.Asp1478Gly
  • NP_001394576.1:p.Asp1477Gly
  • NP_001394577.1:p.Asp1463Gly
  • NP_001394578.1:p.Asp1462Gly
  • NP_001394581.1:p.Asp1482Gly
  • NP_001394582.1:p.Asp1456Gly
  • NP_001394583.1:p.Asp1456Gly
  • NP_001394584.1:p.Asp1456Gly
  • NP_001394585.1:p.Asp1455Gly
  • NP_001394586.1:p.Asp1455Gly
  • NP_001394587.1:p.Asp1455Gly
  • NP_001394588.1:p.Asp1454Gly
  • NP_001394589.1:p.Asp1454Gly
  • NP_001394590.1:p.Asp1454Gly
  • NP_001394591.1:p.Asp1454Gly
  • NP_001394592.1:p.Asp1454Gly
  • NP_001394593.1:p.Asp1441Gly
  • NP_001394594.1:p.Asp1441Gly
  • NP_001394595.1:p.Asp1441Gly
  • NP_001394596.1:p.Asp1441Gly
  • NP_001394597.1:p.Asp1441Gly
  • NP_001394598.1:p.Asp1441Gly
  • NP_001394599.1:p.Asp1440Gly
  • NP_001394600.1:p.Asp1440Gly
  • NP_001394601.1:p.Asp1440Gly
  • NP_001394602.1:p.Asp1440Gly
  • NP_001394603.1:p.Asp1440Gly
  • NP_001394604.1:p.Asp1440Gly
  • NP_001394605.1:p.Asp1440Gly
  • NP_001394606.1:p.Asp1440Gly
  • NP_001394607.1:p.Asp1440Gly
  • NP_001394608.1:p.Asp1440Gly
  • NP_001394609.1:p.Asp1440Gly
  • NP_001394610.1:p.Asp1439Gly
  • NP_001394611.1:p.Asp1439Gly
  • NP_001394612.1:p.Asp1439Gly
  • NP_001394613.1:p.Asp1482Gly
  • NP_001394614.1:p.Asp1439Gly
  • NP_001394615.1:p.Asp1439Gly
  • NP_001394616.1:p.Asp1439Gly
  • NP_001394617.1:p.Asp1439Gly
  • NP_001394618.1:p.Asp1439Gly
  • NP_001394619.1:p.Asp1438Gly
  • NP_001394620.1:p.Asp1438Gly
  • NP_001394621.1:p.Asp1435Gly
  • NP_001394623.1:p.Asp1435Gly
  • NP_001394624.1:p.Asp1435Gly
  • NP_001394625.1:p.Asp1435Gly
  • NP_001394626.1:p.Asp1435Gly
  • NP_001394627.1:p.Asp1435Gly
  • NP_001394653.1:p.Asp1435Gly
  • NP_001394654.1:p.Asp1435Gly
  • NP_001394655.1:p.Asp1435Gly
  • NP_001394656.1:p.Asp1435Gly
  • NP_001394657.1:p.Asp1435Gly
  • NP_001394658.1:p.Asp1435Gly
  • NP_001394659.1:p.Asp1435Gly
  • NP_001394660.1:p.Asp1435Gly
  • NP_001394661.1:p.Asp1434Gly
  • NP_001394662.1:p.Asp1434Gly
  • NP_001394663.1:p.Asp1434Gly
  • NP_001394664.1:p.Asp1434Gly
  • NP_001394665.1:p.Asp1434Gly
  • NP_001394666.1:p.Asp1434Gly
  • NP_001394667.1:p.Asp1434Gly
  • NP_001394668.1:p.Asp1434Gly
  • NP_001394669.1:p.Asp1434Gly
  • NP_001394670.1:p.Asp1434Gly
  • NP_001394671.1:p.Asp1434Gly
  • NP_001394672.1:p.Asp1434Gly
  • NP_001394673.1:p.Asp1434Gly
  • NP_001394674.1:p.Asp1434Gly
  • NP_001394675.1:p.Asp1434Gly
  • NP_001394676.1:p.Asp1434Gly
  • NP_001394677.1:p.Asp1434Gly
  • NP_001394678.1:p.Asp1434Gly
  • NP_001394679.1:p.Asp1434Gly
  • NP_001394680.1:p.Asp1434Gly
  • NP_001394681.1:p.Asp1434Gly
  • NP_001394767.1:p.Asp1433Gly
  • NP_001394768.1:p.Asp1433Gly
  • NP_001394770.1:p.Asp1433Gly
  • NP_001394771.1:p.Asp1433Gly
  • NP_001394772.1:p.Asp1433Gly
  • NP_001394773.1:p.Asp1433Gly
  • NP_001394774.1:p.Asp1433Gly
  • NP_001394775.1:p.Asp1433Gly
  • NP_001394776.1:p.Asp1433Gly
  • NP_001394777.1:p.Asp1433Gly
  • NP_001394778.1:p.Asp1433Gly
  • NP_001394779.1:p.Asp1433Gly
  • NP_001394780.1:p.Asp1433Gly
  • NP_001394781.1:p.Asp1433Gly
  • NP_001394782.1:p.Asp1433Gly
  • NP_001394783.1:p.Asp1482Gly
  • NP_001394787.1:p.Asp1481Gly
  • NP_001394788.1:p.Asp1481Gly
  • NP_001394789.1:p.Asp1481Gly
  • NP_001394790.1:p.Asp1480Gly
  • NP_001394791.1:p.Asp1415Gly
  • NP_001394792.1:p.Asp1440Gly
  • NP_001394803.1:p.Asp1413Gly
  • NP_001394804.1:p.Asp1413Gly
  • NP_001394808.1:p.Asp1412Gly
  • NP_001394810.1:p.Asp1412Gly
  • NP_001394811.1:p.Asp1412Gly
  • NP_001394813.1:p.Asp1412Gly
  • NP_001394814.1:p.Asp1412Gly
  • NP_001394815.1:p.Asp1412Gly
  • NP_001394816.1:p.Asp1412Gly
  • NP_001394818.1:p.Asp1412Gly
  • NP_001394823.1:p.Asp1411Gly
  • NP_001394824.1:p.Asp1411Gly
  • NP_001394825.1:p.Asp1411Gly
  • NP_001394826.1:p.Asp1411Gly
  • NP_001394827.1:p.Asp1411Gly
  • NP_001394828.1:p.Asp1411Gly
  • NP_001394829.1:p.Asp1411Gly
  • NP_001394831.1:p.Asp1411Gly
  • NP_001394833.1:p.Asp1411Gly
  • NP_001394835.1:p.Asp1411Gly
  • NP_001394836.1:p.Asp1411Gly
  • NP_001394837.1:p.Asp1411Gly
  • NP_001394838.1:p.Asp1411Gly
  • NP_001394839.1:p.Asp1411Gly
  • NP_001394844.1:p.Asp1410Gly
  • NP_001394845.1:p.Asp1410Gly
  • NP_001394846.1:p.Asp1410Gly
  • NP_001394847.1:p.Asp1410Gly
  • NP_001394848.1:p.Asp1441Gly
  • NP_001394849.1:p.Asp1394Gly
  • NP_001394850.1:p.Asp1394Gly
  • NP_001394851.1:p.Asp1394Gly
  • NP_001394852.1:p.Asp1394Gly
  • NP_001394853.1:p.Asp1394Gly
  • NP_001394854.1:p.Asp1394Gly
  • NP_001394855.1:p.Asp1394Gly
  • NP_001394856.1:p.Asp1393Gly
  • NP_001394857.1:p.Asp1393Gly
  • NP_001394858.1:p.Asp1393Gly
  • NP_001394859.1:p.Asp1393Gly
  • NP_001394860.1:p.Asp1393Gly
  • NP_001394861.1:p.Asp1393Gly
  • NP_001394862.1:p.Asp1393Gly
  • NP_001394863.1:p.Asp1392Gly
  • NP_001394864.1:p.Asp1392Gly
  • NP_001394865.1:p.Asp1392Gly
  • NP_001394866.1:p.Asp1441Gly
  • NP_001394867.1:p.Asp1441Gly
  • NP_001394868.1:p.Asp1440Gly
  • NP_001394869.1:p.Asp1440Gly
  • NP_001394870.1:p.Asp1439Gly
  • NP_001394871.1:p.Asp1435Gly
  • NP_001394872.1:p.Asp1434Gly
  • NP_001394873.1:p.Asp1434Gly
  • NP_001394874.1:p.Asp1434Gly
  • NP_001394875.1:p.Asp1371Gly
  • NP_001394876.1:p.Asp1371Gly
  • NP_001394877.1:p.Asp1371Gly
  • NP_001394878.1:p.Asp1371Gly
  • NP_001394879.1:p.Asp1370Gly
  • NP_001394880.1:p.Asp1370Gly
  • NP_001394881.1:p.Asp1370Gly
  • NP_001394882.1:p.Asp1370Gly
  • NP_001394883.1:p.Asp1370Gly
  • NP_001394884.1:p.Asp1370Gly
  • NP_001394885.1:p.Asp1369Gly
  • NP_001394886.1:p.Asp1369Gly
  • NP_001394887.1:p.Asp1369Gly
  • NP_001394888.1:p.Asp1355Gly
  • NP_001394889.1:p.Asp1354Gly
  • NP_001394891.1:p.Asp1354Gly
  • NP_001394892.1:p.Asp1353Gly
  • NP_001394894.1:p.Asp1313Gly
  • NP_001394895.1:p.Asp1186Gly
  • NP_001394896.1:p.Asp1185Gly
  • NP_001394897.1:p.Asp614Gly
  • NP_001394898.1:p.Asp613Gly
  • NP_001394899.1:p.Asp401Gly
  • NP_001394900.1:p.Asp401Gly
  • NP_001394901.1:p.Asp400Gly
  • NP_001394902.1:p.Asp379Gly
  • NP_001394903.1:p.Asp379Gly
  • NP_001394904.1:p.Asp379Gly
  • NP_001394905.1:p.Asp379Gly
  • NP_001394906.1:p.Asp379Gly
  • NP_001394907.1:p.Asp379Gly
  • NP_001394908.1:p.Asp378Gly
  • NP_001394909.1:p.Asp378Gly
  • NP_001394910.1:p.Asp378Gly
  • NP_001394911.1:p.Asp378Gly
  • NP_001394912.1:p.Asp378Gly
  • NP_001394913.1:p.Asp378Gly
  • NP_001394914.1:p.Asp378Gly
  • NP_001394915.1:p.Asp378Gly
  • NP_001394919.1:p.Asp378Gly
  • NP_001394920.1:p.Asp378Gly
  • NP_001394921.1:p.Asp378Gly
  • NP_001394922.1:p.Asp378Gly
  • NP_001395321.1:p.Asp377Gly
  • NP_001395325.1:p.Asp377Gly
  • NP_001395326.1:p.Asp377Gly
  • NP_001395327.1:p.Asp377Gly
  • NP_001395328.1:p.Asp377Gly
  • NP_001395329.1:p.Asp377Gly
  • NP_001395330.1:p.Asp377Gly
  • NP_001395331.1:p.Asp377Gly
  • NP_001395332.1:p.Asp377Gly
  • NP_001395333.1:p.Asp377Gly
  • NP_001395335.1:p.Asp376Gly
  • NP_001395336.1:p.Asp376Gly
  • NP_001395337.1:p.Asp376Gly
  • NP_001395338.1:p.Asp375Gly
  • NP_001395339.1:p.Asp354Gly
  • NP_001395340.1:p.Asp353Gly
  • NP_001395341.1:p.Asp352Gly
  • NP_001395342.1:p.Asp352Gly
  • NP_001395343.1:p.Asp352Gly
  • NP_001395344.1:p.Asp352Gly
  • NP_001395345.1:p.Asp352Gly
  • NP_001395347.1:p.Asp340Gly
  • NP_001395348.1:p.Asp340Gly
  • NP_001395349.1:p.Asp340Gly
  • NP_001395350.1:p.Asp339Gly
  • NP_001395351.1:p.Asp339Gly
  • NP_001395352.1:p.Asp339Gly
  • NP_001395353.1:p.Asp339Gly
  • NP_001395354.1:p.Asp338Gly
  • NP_001395355.1:p.Asp338Gly
  • NP_001395356.1:p.Asp338Gly
  • NP_001395357.1:p.Asp338Gly
  • NP_001395358.1:p.Asp338Gly
  • NP_001395359.1:p.Asp338Gly
  • NP_001395360.1:p.Asp338Gly
  • NP_001395361.1:p.Asp337Gly
  • NP_001395362.1:p.Asp337Gly
  • NP_001395363.1:p.Asp337Gly
  • NP_001395364.1:p.Asp337Gly
  • NP_001395365.1:p.Asp337Gly
  • NP_001395366.1:p.Asp337Gly
  • NP_001395367.1:p.Asp337Gly
  • NP_001395368.1:p.Asp337Gly
  • NP_001395369.1:p.Asp337Gly
  • NP_001395370.1:p.Asp337Gly
  • NP_001395371.1:p.Asp337Gly
  • NP_001395372.1:p.Asp337Gly
  • NP_001395373.1:p.Asp337Gly
  • NP_001395374.1:p.Asp336Gly
  • NP_001395375.1:p.Asp336Gly
  • NP_001395376.1:p.Asp336Gly
  • NP_001395377.1:p.Asp336Gly
  • NP_001395379.1:p.Asp336Gly
  • NP_001395380.1:p.Asp334Gly
  • NP_001395381.1:p.Asp332Gly
  • NP_001395382.1:p.Asp332Gly
  • NP_001395383.1:p.Asp332Gly
  • NP_001395384.1:p.Asp332Gly
  • NP_001395385.1:p.Asp332Gly
  • NP_001395386.1:p.Asp332Gly
  • NP_001395387.1:p.Asp331Gly
  • NP_001395388.1:p.Asp331Gly
  • NP_001395389.1:p.Asp331Gly
  • NP_001395390.1:p.Asp331Gly
  • NP_001395391.1:p.Asp331Gly
  • NP_001395392.1:p.Asp331Gly
  • NP_001395393.1:p.Asp331Gly
  • NP_001395394.1:p.Asp331Gly
  • NP_001395395.1:p.Asp331Gly
  • NP_001395396.1:p.Asp331Gly
  • NP_001395397.1:p.Asp330Gly
  • NP_001395398.1:p.Asp330Gly
  • NP_001395399.1:p.Asp330Gly
  • NP_001395401.1:p.Asp378Gly
  • NP_001395402.1:p.Asp377Gly
  • NP_001395403.1:p.Asp312Gly
  • NP_001395404.1:p.Asp311Gly
  • NP_001395405.1:p.Asp311Gly
  • NP_001395407.1:p.Asp309Gly
  • NP_001395408.1:p.Asp309Gly
  • NP_001395409.1:p.Asp309Gly
  • NP_001395410.1:p.Asp308Gly
  • NP_001395411.1:p.Asp308Gly
  • NP_001395412.1:p.Asp308Gly
  • NP_001395413.1:p.Asp308Gly
  • NP_001395414.1:p.Asp308Gly
  • NP_001395418.1:p.Asp308Gly
  • NP_001395419.1:p.Asp308Gly
  • NP_001395420.1:p.Asp308Gly
  • NP_001395421.1:p.Asp307Gly
  • NP_001395422.1:p.Asp307Gly
  • NP_001395423.1:p.Asp299Gly
  • NP_001395424.1:p.Asp297Gly
  • NP_001395425.1:p.Asp291Gly
  • NP_001395426.1:p.Asp291Gly
  • NP_001395427.1:p.Asp291Gly
  • NP_001395428.1:p.Asp291Gly
  • NP_001395429.1:p.Asp291Gly
  • NP_001395430.1:p.Asp291Gly
  • NP_001395431.1:p.Asp290Gly
  • NP_001395432.1:p.Asp290Gly
  • NP_001395433.1:p.Asp290Gly
  • NP_001395434.1:p.Asp289Gly
  • NP_001395435.1:p.Asp270Gly
  • NP_001395436.1:p.Asp269Gly
  • NP_001395437.1:p.Asp266Gly
  • NP_001395438.1:p.Asp265Gly
  • NP_001395439.1:p.Asp252Gly
  • NP_001395440.1:p.Asp251Gly
  • NP_001395441.1:p.Asp211Gly
  • NP_009225.1:p.Asp1482Gly
  • NP_009225.1:p.Asp1482Gly
  • NP_009228.2:p.Asp1435Gly
  • NP_009229.2:p.Asp378Gly
  • NP_009229.2:p.Asp378Gly
  • NP_009230.2:p.Asp378Gly
  • NP_009231.2:p.Asp1503Gly
  • NP_009235.2:p.Asp378Gly
  • LRG_292t1:c.4445A>G
  • LRG_292:g.141457A>G
  • LRG_292p1:p.Asp1482Gly
  • NC_000017.10:g.41228544T>C
  • NM_007294.3:c.4445A>G
  • NM_007298.3:c.1133A>G
  • NR_027676.2:n.4622A>G
Protein change:
D1185G
Links:
dbSNP: rs757726297
NCBI 1000 Genomes Browser:
rs757726297
Molecular consequence:
  • NM_001407571.1:c.4232A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.4511A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.4511A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.4508A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.4508A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.4508A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.4505A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.4505A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.4445A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.4445A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.4445A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.4445A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.4445A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.4445A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.4445A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.4445A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.4442A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.4442A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.4442A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.4442A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.4442A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.4442A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.4442A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.4442A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.4442A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.4442A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.4442A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.4442A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.4442A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.4442A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.4442A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.4442A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.4442A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.4439A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.4439A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.4439A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.4439A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.4439A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.4439A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.4439A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.4439A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.4439A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.4439A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.4439A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.4439A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.4439A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.4439A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.4439A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.4439A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.4436A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.4436A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.4433A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.4430A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.4388A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.4385A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.4445A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.4367A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.4367A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.4367A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.4364A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.4364A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.4364A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.4361A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.4361A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.4361A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.4361A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.4361A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.4322A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.4322A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.4322A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.4322A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.4322A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.4322A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.4319A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.4319A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.4319A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.4319A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.4319A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.4319A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.4319A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.4319A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.4319A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.4319A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.4319A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.4316A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.4316A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.4316A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.4445A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.4316A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.4316A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.4316A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.4316A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.4316A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.4313A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.4313A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.4304A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.4304A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.4304A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.4304A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.4304A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.4304A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.4304A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.4304A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.4304A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.4304A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.4304A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.4304A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.4304A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.4304A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.4301A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.4301A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.4301A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.4301A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.4301A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.4301A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.4301A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.4301A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.4301A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.4301A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.4301A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.4301A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.4301A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.4301A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.4301A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.4301A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.4301A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.4301A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.4301A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.4301A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.4301A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.4298A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.4298A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.4298A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.4298A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.4298A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.4298A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.4298A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.4298A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.4298A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.4298A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.4298A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.4298A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.4298A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.4298A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.4298A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.4445A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.4442A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.4442A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.4442A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.4439A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.4244A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.4319A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.4238A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.4238A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.4235A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.4235A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.4235A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.4235A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.4235A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.4235A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.4235A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.4235A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.4232A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.4232A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.4232A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.4232A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.4232A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.4232A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.4232A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.4232A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.4232A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.4232A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.4232A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.4232A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.4232A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.4232A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.4229A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.4229A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.4229A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.4229A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.4322A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.4181A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.4181A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.4181A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.4181A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.4181A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.4181A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.4181A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.4178A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.4178A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.4178A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.4178A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.4178A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.4178A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.4178A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.4175A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.4175A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.4175A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.4322A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.4322A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.4319A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.4319A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.4316A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.4304A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.4301A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.4301A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.4301A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.4112A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.4112A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.4112A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.4112A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.4109A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.4109A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.4109A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.4109A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.4109A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.4109A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.4106A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.4106A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.4106A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.4064A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.4058A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.3938A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.3557A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.3554A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.1841A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.1838A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407970.1:c.1202A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407971.1:c.1202A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407972.1:c.1199A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407973.1:c.1136A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407974.1:c.1136A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407975.1:c.1136A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407976.1:c.1136A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407977.1:c.1136A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407978.1:c.1136A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407979.1:c.1133A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407980.1:c.1133A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407981.1:c.1133A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407982.1:c.1133A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407983.1:c.1133A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407984.1:c.1133A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407985.1:c.1133A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407986.1:c.1133A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407990.1:c.1133A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407991.1:c.1133A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407992.1:c.1133A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407993.1:c.1133A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408392.1:c.1130A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408396.1:c.1130A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408397.1:c.1130A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408398.1:c.1130A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408399.1:c.1130A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408400.1:c.1130A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408401.1:c.1130A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408402.1:c.1130A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408403.1:c.1130A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408404.1:c.1130A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408406.1:c.1127A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408407.1:c.1127A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408408.1:c.1127A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408409.1:c.1124A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408410.1:c.1061A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408411.1:c.1058A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408412.1:c.1055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408413.1:c.1055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408414.1:c.1055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408415.1:c.1055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408416.1:c.1055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408418.1:c.1019A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408419.1:c.1019A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408420.1:c.1019A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408421.1:c.1016A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408422.1:c.1016A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408423.1:c.1016A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408424.1:c.1016A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408425.1:c.1013A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408426.1:c.1013A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408427.1:c.1013A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408428.1:c.1013A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408429.1:c.1013A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408430.1:c.1013A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408431.1:c.1013A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408432.1:c.1010A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408433.1:c.1010A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408434.1:c.1010A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408435.1:c.1010A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408436.1:c.1010A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408437.1:c.1010A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408438.1:c.1010A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408439.1:c.1010A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408440.1:c.1010A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408441.1:c.1010A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408442.1:c.1010A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408443.1:c.1010A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408444.1:c.1010A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408445.1:c.1007A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408446.1:c.1007A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408447.1:c.1007A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408448.1:c.1007A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408450.1:c.1007A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408451.1:c.1001A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408452.1:c.995A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408453.1:c.995A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408454.1:c.995A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408455.1:c.995A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408456.1:c.995A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408457.1:c.995A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408458.1:c.992A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408459.1:c.992A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408460.1:c.992A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408461.1:c.992A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408462.1:c.992A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408463.1:c.992A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408464.1:c.992A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408465.1:c.992A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408466.1:c.992A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408467.1:c.992A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408468.1:c.989A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408469.1:c.989A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408470.1:c.989A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408472.1:c.1133A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408473.1:c.1130A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408474.1:c.935A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408475.1:c.932A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408476.1:c.932A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408478.1:c.926A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408479.1:c.926A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408480.1:c.926A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408481.1:c.923A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408482.1:c.923A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408483.1:c.923A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408484.1:c.923A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408485.1:c.923A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408489.1:c.923A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408490.1:c.923A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408491.1:c.923A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408492.1:c.920A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408493.1:c.920A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408494.1:c.896A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408495.1:c.890A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408496.1:c.872A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408497.1:c.872A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408498.1:c.872A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408499.1:c.872A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408500.1:c.872A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408501.1:c.872A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408502.1:c.869A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408503.1:c.869A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408504.1:c.869A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408505.1:c.866A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408506.1:c.809A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408507.1:c.806A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408508.1:c.797A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408509.1:c.794A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408510.1:c.755A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408511.1:c.752A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408512.1:c.632A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.4445A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.4304A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.4:c.1133A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007299.4:c.1133A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.4508A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007304.2:c.1133A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.4622A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV001499420Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Jul 19, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

EMMA, a cost- and time-effective diagnostic method for simultaneous detection of point mutations and large-scale genomic rearrangements: application to BRCA1 and BRCA2 in 1,525 patients.

Caux-Moncoutier V, Castéra L, Tirapo C, Michaux D, Rémon MA, Laugé A, Rouleau E, De Pauw A, Buecher B, Gauthier-Villars M, Viovy JL, Stoppa-Lyonnet D, Houdayer C.

Hum Mutat. 2011 Mar;32(3):325-34. doi: 10.1002/humu.21414. Epub 2011 Feb 8.

PubMed [citation]
PMID:
21120943

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001499420.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glycine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has been observed in individual(s) with clinical features of hereditary breast and ovarian cancer syndrome (PMID: 21120943). ClinVar contains an entry for this variant (Variation ID: 808278). This variant is not present in population databases (ExAC no frequency). This sequence change replaces aspartic acid with glycine at codon 1482 of the BRCA1 protein (p.Asp1482Gly). The aspartic acid residue is moderately conserved and there is a moderate physicochemical difference between aspartic acid and glycine.

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

Last Updated: Oct 13, 2024