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NM_007294.4(BRCA1):c.4184A>G (p.Gln1395Arg) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:
Uncertain significance (3 submissions)
Last evaluated:
Aug 28, 2023
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:
RCV000077565.17

Allele description [Variation Report for NM_007294.4(BRCA1):c.4184A>G (p.Gln1395Arg)]

NM_007294.4(BRCA1):c.4184A>G (p.Gln1395Arg)

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.4184A>G (p.Gln1395Arg)
HGVS:
  • NC_000017.11:g.43090945T>C
  • NG_005905.2:g.127039A>G
  • NM_001407571.1:c.3971A>G
  • NM_001407581.1:c.4184A>G
  • NM_001407582.1:c.4184A>G
  • NM_001407583.1:c.4184A>G
  • NM_001407585.1:c.4184A>G
  • NM_001407587.1:c.4181A>G
  • NM_001407590.1:c.4181A>G
  • NM_001407591.1:c.4181A>G
  • NM_001407593.1:c.4184A>G
  • NM_001407594.1:c.4184A>G
  • NM_001407596.1:c.4184A>G
  • NM_001407597.1:c.4184A>G
  • NM_001407598.1:c.4184A>G
  • NM_001407602.1:c.4184A>G
  • NM_001407603.1:c.4184A>G
  • NM_001407605.1:c.4184A>G
  • NM_001407610.1:c.4181A>G
  • NM_001407611.1:c.4181A>G
  • NM_001407612.1:c.4181A>G
  • NM_001407613.1:c.4181A>G
  • NM_001407614.1:c.4181A>G
  • NM_001407615.1:c.4181A>G
  • NM_001407616.1:c.4184A>G
  • NM_001407617.1:c.4184A>G
  • NM_001407618.1:c.4184A>G
  • NM_001407619.1:c.4184A>G
  • NM_001407620.1:c.4184A>G
  • NM_001407621.1:c.4184A>G
  • NM_001407622.1:c.4184A>G
  • NM_001407623.1:c.4184A>G
  • NM_001407624.1:c.4184A>G
  • NM_001407625.1:c.4184A>G
  • NM_001407626.1:c.4184A>G
  • NM_001407627.1:c.4181A>G
  • NM_001407628.1:c.4181A>G
  • NM_001407629.1:c.4181A>G
  • NM_001407630.1:c.4181A>G
  • NM_001407631.1:c.4181A>G
  • NM_001407632.1:c.4181A>G
  • NM_001407633.1:c.4181A>G
  • NM_001407634.1:c.4181A>G
  • NM_001407635.1:c.4181A>G
  • NM_001407636.1:c.4181A>G
  • NM_001407637.1:c.4181A>G
  • NM_001407638.1:c.4181A>G
  • NM_001407639.1:c.4184A>G
  • NM_001407640.1:c.4184A>G
  • NM_001407641.1:c.4184A>G
  • NM_001407642.1:c.4184A>G
  • NM_001407644.1:c.4181A>G
  • NM_001407645.1:c.4181A>G
  • NM_001407646.1:c.4175A>G
  • NM_001407647.1:c.4175A>G
  • NM_001407648.1:c.4061A>G
  • NM_001407649.1:c.4058A>G
  • NM_001407652.1:c.4184A>G
  • NM_001407653.1:c.4106A>G
  • NM_001407654.1:c.4106A>G
  • NM_001407655.1:c.4106A>G
  • NM_001407656.1:c.4106A>G
  • NM_001407657.1:c.4106A>G
  • NM_001407658.1:c.4106A>G
  • NM_001407659.1:c.4103A>G
  • NM_001407660.1:c.4103A>G
  • NM_001407661.1:c.4103A>G
  • NM_001407662.1:c.4103A>G
  • NM_001407663.1:c.4106A>G
  • NM_001407664.1:c.4061A>G
  • NM_001407665.1:c.4061A>G
  • NM_001407666.1:c.4061A>G
  • NM_001407667.1:c.4061A>G
  • NM_001407668.1:c.4061A>G
  • NM_001407669.1:c.4061A>G
  • NM_001407670.1:c.4058A>G
  • NM_001407671.1:c.4058A>G
  • NM_001407672.1:c.4058A>G
  • NM_001407673.1:c.4058A>G
  • NM_001407674.1:c.4061A>G
  • NM_001407675.1:c.4061A>G
  • NM_001407676.1:c.4061A>G
  • NM_001407677.1:c.4061A>G
  • NM_001407678.1:c.4061A>G
  • NM_001407679.1:c.4061A>G
  • NM_001407680.1:c.4061A>G
  • NM_001407681.1:c.4061A>G
  • NM_001407682.1:c.4061A>G
  • NM_001407683.1:c.4061A>G
  • NM_001407684.1:c.4184A>G
  • NM_001407685.1:c.4058A>G
  • NM_001407686.1:c.4058A>G
  • NM_001407687.1:c.4058A>G
  • NM_001407688.1:c.4058A>G
  • NM_001407689.1:c.4058A>G
  • NM_001407690.1:c.4058A>G
  • NM_001407691.1:c.4058A>G
  • NM_001407692.1:c.4043A>G
  • NM_001407694.1:c.4043A>G
  • NM_001407695.1:c.4043A>G
  • NM_001407696.1:c.4043A>G
  • NM_001407697.1:c.4043A>G
  • NM_001407698.1:c.4043A>G
  • NM_001407724.1:c.4043A>G
  • NM_001407725.1:c.4043A>G
  • NM_001407726.1:c.4043A>G
  • NM_001407727.1:c.4043A>G
  • NM_001407728.1:c.4043A>G
  • NM_001407729.1:c.4043A>G
  • NM_001407730.1:c.4043A>G
  • NM_001407731.1:c.4043A>G
  • NM_001407732.1:c.4043A>G
  • NM_001407733.1:c.4043A>G
  • NM_001407734.1:c.4043A>G
  • NM_001407735.1:c.4043A>G
  • NM_001407736.1:c.4043A>G
  • NM_001407737.1:c.4043A>G
  • NM_001407738.1:c.4043A>G
  • NM_001407739.1:c.4043A>G
  • NM_001407740.1:c.4040A>G
  • NM_001407741.1:c.4040A>G
  • NM_001407742.1:c.4040A>G
  • NM_001407743.1:c.4040A>G
  • NM_001407744.1:c.4040A>G
  • NM_001407745.1:c.4040A>G
  • NM_001407746.1:c.4040A>G
  • NM_001407747.1:c.4040A>G
  • NM_001407748.1:c.4040A>G
  • NM_001407749.1:c.4040A>G
  • NM_001407750.1:c.4043A>G
  • NM_001407751.1:c.4043A>G
  • NM_001407752.1:c.4043A>G
  • NM_001407838.1:c.4040A>G
  • NM_001407839.1:c.4040A>G
  • NM_001407841.1:c.4040A>G
  • NM_001407842.1:c.4040A>G
  • NM_001407843.1:c.4040A>G
  • NM_001407844.1:c.4040A>G
  • NM_001407845.1:c.4040A>G
  • NM_001407846.1:c.4040A>G
  • NM_001407847.1:c.4040A>G
  • NM_001407848.1:c.4040A>G
  • NM_001407849.1:c.4040A>G
  • NM_001407850.1:c.4043A>G
  • NM_001407851.1:c.4043A>G
  • NM_001407852.1:c.4043A>G
  • NM_001407853.1:c.3971A>G
  • NM_001407854.1:c.4184A>G
  • NM_001407858.1:c.4184A>G
  • NM_001407859.1:c.4184A>G
  • NM_001407860.1:c.4181A>G
  • NM_001407861.1:c.4181A>G
  • NM_001407862.1:c.3983A>G
  • NM_001407863.1:c.4061A>G
  • NM_001407874.1:c.3980A>G
  • NM_001407875.1:c.3980A>G
  • NM_001407879.1:c.3974A>G
  • NM_001407881.1:c.3974A>G
  • NM_001407882.1:c.3974A>G
  • NM_001407884.1:c.3974A>G
  • NM_001407885.1:c.3974A>G
  • NM_001407886.1:c.3974A>G
  • NM_001407887.1:c.3974A>G
  • NM_001407889.1:c.3974A>G
  • NM_001407894.1:c.3971A>G
  • NM_001407895.1:c.3971A>G
  • NM_001407896.1:c.3971A>G
  • NM_001407897.1:c.3971A>G
  • NM_001407898.1:c.3971A>G
  • NM_001407899.1:c.3971A>G
  • NM_001407900.1:c.3974A>G
  • NM_001407902.1:c.3974A>G
  • NM_001407904.1:c.3974A>G
  • NM_001407906.1:c.3974A>G
  • NM_001407907.1:c.3974A>G
  • NM_001407908.1:c.3974A>G
  • NM_001407909.1:c.3974A>G
  • NM_001407910.1:c.3974A>G
  • NM_001407915.1:c.3971A>G
  • NM_001407916.1:c.3971A>G
  • NM_001407917.1:c.3971A>G
  • NM_001407918.1:c.3971A>G
  • NM_001407919.1:c.4061A>G
  • NM_001407920.1:c.3920A>G
  • NM_001407921.1:c.3920A>G
  • NM_001407922.1:c.3920A>G
  • NM_001407923.1:c.3920A>G
  • NM_001407924.1:c.3920A>G
  • NM_001407925.1:c.3920A>G
  • NM_001407926.1:c.3920A>G
  • NM_001407927.1:c.3920A>G
  • NM_001407928.1:c.3920A>G
  • NM_001407929.1:c.3920A>G
  • NM_001407930.1:c.3917A>G
  • NM_001407931.1:c.3917A>G
  • NM_001407932.1:c.3917A>G
  • NM_001407933.1:c.3920A>G
  • NM_001407934.1:c.3917A>G
  • NM_001407935.1:c.3920A>G
  • NM_001407936.1:c.3917A>G
  • NM_001407937.1:c.4061A>G
  • NM_001407938.1:c.4061A>G
  • NM_001407939.1:c.4061A>G
  • NM_001407940.1:c.4058A>G
  • NM_001407941.1:c.4058A>G
  • NM_001407942.1:c.4043A>G
  • NM_001407943.1:c.4040A>G
  • NM_001407944.1:c.4043A>G
  • NM_001407945.1:c.4043A>G
  • NM_001407946.1:c.3851A>G
  • NM_001407947.1:c.3851A>G
  • NM_001407948.1:c.3851A>G
  • NM_001407949.1:c.3851A>G
  • NM_001407950.1:c.3851A>G
  • NM_001407951.1:c.3851A>G
  • NM_001407952.1:c.3851A>G
  • NM_001407953.1:c.3851A>G
  • NM_001407954.1:c.3848A>G
  • NM_001407955.1:c.3848A>G
  • NM_001407956.1:c.3848A>G
  • NM_001407957.1:c.3851A>G
  • NM_001407958.1:c.3848A>G
  • NM_001407959.1:c.3803A>G
  • NM_001407960.1:c.3803A>G
  • NM_001407962.1:c.3800A>G
  • NM_001407963.1:c.3803A>G
  • NM_001407964.1:c.4040A>G
  • NM_001407965.1:c.3680A>G
  • NM_001407966.1:c.3296A>G
  • NM_001407967.1:c.3296A>G
  • NM_001407968.1:c.1580A>G
  • NM_001407969.1:c.1580A>G
  • NM_001407970.1:c.875A>G
  • NM_001407971.1:c.875A>G
  • NM_001407972.1:c.872A>G
  • NM_001407973.1:c.875A>G
  • NM_001407974.1:c.875A>G
  • NM_001407975.1:c.875A>G
  • NM_001407976.1:c.875A>G
  • NM_001407977.1:c.875A>G
  • NM_001407978.1:c.875A>G
  • NM_001407979.1:c.875A>G
  • NM_001407980.1:c.875A>G
  • NM_001407981.1:c.875A>G
  • NM_001407982.1:c.875A>G
  • NM_001407983.1:c.875A>G
  • NM_001407984.1:c.872A>G
  • NM_001407985.1:c.872A>G
  • NM_001407986.1:c.872A>G
  • NM_001407990.1:c.875A>G
  • NM_001407991.1:c.872A>G
  • NM_001407992.1:c.872A>G
  • NM_001407993.1:c.875A>G
  • NM_001408392.1:c.872A>G
  • NM_001408396.1:c.872A>G
  • NM_001408397.1:c.872A>G
  • NM_001408398.1:c.872A>G
  • NM_001408399.1:c.872A>G
  • NM_001408400.1:c.872A>G
  • NM_001408401.1:c.872A>G
  • NM_001408402.1:c.872A>G
  • NM_001408403.1:c.875A>G
  • NM_001408404.1:c.875A>G
  • NM_001408406.1:c.869A>G
  • NM_001408407.1:c.872A>G
  • NM_001408408.1:c.866A>G
  • NM_001408409.1:c.797A>G
  • NM_001408410.1:c.734A>G
  • NM_001408411.1:c.797A>G
  • NM_001408412.1:c.797A>G
  • NM_001408413.1:c.794A>G
  • NM_001408414.1:c.797A>G
  • NM_001408415.1:c.797A>G
  • NM_001408416.1:c.794A>G
  • NM_001408418.1:c.758A>G
  • NM_001408419.1:c.758A>G
  • NM_001408420.1:c.758A>G
  • NM_001408421.1:c.755A>G
  • NM_001408422.1:c.758A>G
  • NM_001408423.1:c.758A>G
  • NM_001408424.1:c.755A>G
  • NM_001408425.1:c.752A>G
  • NM_001408426.1:c.752A>G
  • NM_001408427.1:c.752A>G
  • NM_001408428.1:c.752A>G
  • NM_001408429.1:c.752A>G
  • NM_001408430.1:c.752A>G
  • NM_001408431.1:c.755A>G
  • NM_001408432.1:c.749A>G
  • NM_001408433.1:c.749A>G
  • NM_001408434.1:c.749A>G
  • NM_001408435.1:c.749A>G
  • NM_001408436.1:c.752A>G
  • NM_001408437.1:c.752A>G
  • NM_001408438.1:c.752A>G
  • NM_001408439.1:c.752A>G
  • NM_001408440.1:c.752A>G
  • NM_001408441.1:c.752A>G
  • NM_001408442.1:c.752A>G
  • NM_001408443.1:c.752A>G
  • NM_001408444.1:c.752A>G
  • NM_001408445.1:c.749A>G
  • NM_001408446.1:c.749A>G
  • NM_001408447.1:c.749A>G
  • NM_001408448.1:c.749A>G
  • NM_001408450.1:c.749A>G
  • NM_001408451.1:c.740A>G
  • NM_001408452.1:c.734A>G
  • NM_001408453.1:c.734A>G
  • NM_001408454.1:c.734A>G
  • NM_001408455.1:c.734A>G
  • NM_001408456.1:c.734A>G
  • NM_001408457.1:c.734A>G
  • NM_001408458.1:c.734A>G
  • NM_001408459.1:c.734A>G
  • NM_001408460.1:c.734A>G
  • NM_001408461.1:c.734A>G
  • NM_001408462.1:c.731A>G
  • NM_001408463.1:c.731A>G
  • NM_001408464.1:c.731A>G
  • NM_001408465.1:c.731A>G
  • NM_001408466.1:c.734A>G
  • NM_001408467.1:c.734A>G
  • NM_001408468.1:c.731A>G
  • NM_001408469.1:c.734A>G
  • NM_001408470.1:c.731A>G
  • NM_001408472.1:c.875A>G
  • NM_001408473.1:c.872A>G
  • NM_001408474.1:c.674A>G
  • NM_001408475.1:c.671A>G
  • NM_001408476.1:c.674A>G
  • NM_001408478.1:c.665A>G
  • NM_001408479.1:c.665A>G
  • NM_001408480.1:c.665A>G
  • NM_001408481.1:c.665A>G
  • NM_001408482.1:c.665A>G
  • NM_001408483.1:c.665A>G
  • NM_001408484.1:c.665A>G
  • NM_001408485.1:c.665A>G
  • NM_001408489.1:c.665A>G
  • NM_001408490.1:c.662A>G
  • NM_001408491.1:c.662A>G
  • NM_001408492.1:c.665A>G
  • NM_001408493.1:c.662A>G
  • NM_001408494.1:c.635A>G
  • NM_001408495.1:c.632A>G
  • NM_001408496.1:c.611A>G
  • NM_001408497.1:c.611A>G
  • NM_001408498.1:c.611A>G
  • NM_001408499.1:c.611A>G
  • NM_001408500.1:c.611A>G
  • NM_001408501.1:c.611A>G
  • NM_001408502.1:c.542A>G
  • NM_001408503.1:c.608A>G
  • NM_001408504.1:c.608A>G
  • NM_001408505.1:c.608A>G
  • NM_001408506.1:c.548A>G
  • NM_001408507.1:c.548A>G
  • NM_001408508.1:c.539A>G
  • NM_001408509.1:c.539A>G
  • NM_001408510.1:c.494A>G
  • NM_001408511.1:c.491A>G
  • NM_001408512.1:c.371A>G
  • NM_001408513.1:c.665A>G
  • NM_001408514.1:c.665A>G
  • NM_007294.4:c.4184A>GMANE SELECT
  • NM_007297.4:c.4043A>G
  • NM_007298.4:c.875A>G
  • NM_007299.4:c.875A>G
  • NM_007300.4:c.4184A>G
  • NM_007304.2:c.875A>G
  • NP_001394500.1:p.Gln1324Arg
  • NP_001394510.1:p.Gln1395Arg
  • NP_001394511.1:p.Gln1395Arg
  • NP_001394512.1:p.Gln1395Arg
  • NP_001394514.1:p.Gln1395Arg
  • NP_001394516.1:p.Gln1394Arg
  • NP_001394519.1:p.Gln1394Arg
  • NP_001394520.1:p.Gln1394Arg
  • NP_001394522.1:p.Gln1395Arg
  • NP_001394523.1:p.Gln1395Arg
  • NP_001394525.1:p.Gln1395Arg
  • NP_001394526.1:p.Gln1395Arg
  • NP_001394527.1:p.Gln1395Arg
  • NP_001394531.1:p.Gln1395Arg
  • NP_001394532.1:p.Gln1395Arg
  • NP_001394534.1:p.Gln1395Arg
  • NP_001394539.1:p.Gln1394Arg
  • NP_001394540.1:p.Gln1394Arg
  • NP_001394541.1:p.Gln1394Arg
  • NP_001394542.1:p.Gln1394Arg
  • NP_001394543.1:p.Gln1394Arg
  • NP_001394544.1:p.Gln1394Arg
  • NP_001394545.1:p.Gln1395Arg
  • NP_001394546.1:p.Gln1395Arg
  • NP_001394547.1:p.Gln1395Arg
  • NP_001394548.1:p.Gln1395Arg
  • NP_001394549.1:p.Gln1395Arg
  • NP_001394550.1:p.Gln1395Arg
  • NP_001394551.1:p.Gln1395Arg
  • NP_001394552.1:p.Gln1395Arg
  • NP_001394553.1:p.Gln1395Arg
  • NP_001394554.1:p.Gln1395Arg
  • NP_001394555.1:p.Gln1395Arg
  • NP_001394556.1:p.Gln1394Arg
  • NP_001394557.1:p.Gln1394Arg
  • NP_001394558.1:p.Gln1394Arg
  • NP_001394559.1:p.Gln1394Arg
  • NP_001394560.1:p.Gln1394Arg
  • NP_001394561.1:p.Gln1394Arg
  • NP_001394562.1:p.Gln1394Arg
  • NP_001394563.1:p.Gln1394Arg
  • NP_001394564.1:p.Gln1394Arg
  • NP_001394565.1:p.Gln1394Arg
  • NP_001394566.1:p.Gln1394Arg
  • NP_001394567.1:p.Gln1394Arg
  • NP_001394568.1:p.Gln1395Arg
  • NP_001394569.1:p.Gln1395Arg
  • NP_001394570.1:p.Gln1395Arg
  • NP_001394571.1:p.Gln1395Arg
  • NP_001394573.1:p.Gln1394Arg
  • NP_001394574.1:p.Gln1394Arg
  • NP_001394575.1:p.Gln1392Arg
  • NP_001394576.1:p.Gln1392Arg
  • NP_001394577.1:p.Gln1354Arg
  • NP_001394578.1:p.Gln1353Arg
  • NP_001394581.1:p.Gln1395Arg
  • NP_001394582.1:p.Gln1369Arg
  • NP_001394583.1:p.Gln1369Arg
  • NP_001394584.1:p.Gln1369Arg
  • NP_001394585.1:p.Gln1369Arg
  • NP_001394586.1:p.Gln1369Arg
  • NP_001394587.1:p.Gln1369Arg
  • NP_001394588.1:p.Gln1368Arg
  • NP_001394589.1:p.Gln1368Arg
  • NP_001394590.1:p.Gln1368Arg
  • NP_001394591.1:p.Gln1368Arg
  • NP_001394592.1:p.Gln1369Arg
  • NP_001394593.1:p.Gln1354Arg
  • NP_001394594.1:p.Gln1354Arg
  • NP_001394595.1:p.Gln1354Arg
  • NP_001394596.1:p.Gln1354Arg
  • NP_001394597.1:p.Gln1354Arg
  • NP_001394598.1:p.Gln1354Arg
  • NP_001394599.1:p.Gln1353Arg
  • NP_001394600.1:p.Gln1353Arg
  • NP_001394601.1:p.Gln1353Arg
  • NP_001394602.1:p.Gln1353Arg
  • NP_001394603.1:p.Gln1354Arg
  • NP_001394604.1:p.Gln1354Arg
  • NP_001394605.1:p.Gln1354Arg
  • NP_001394606.1:p.Gln1354Arg
  • NP_001394607.1:p.Gln1354Arg
  • NP_001394608.1:p.Gln1354Arg
  • NP_001394609.1:p.Gln1354Arg
  • NP_001394610.1:p.Gln1354Arg
  • NP_001394611.1:p.Gln1354Arg
  • NP_001394612.1:p.Gln1354Arg
  • NP_001394613.1:p.Gln1395Arg
  • NP_001394614.1:p.Gln1353Arg
  • NP_001394615.1:p.Gln1353Arg
  • NP_001394616.1:p.Gln1353Arg
  • NP_001394617.1:p.Gln1353Arg
  • NP_001394618.1:p.Gln1353Arg
  • NP_001394619.1:p.Gln1353Arg
  • NP_001394620.1:p.Gln1353Arg
  • NP_001394621.1:p.Gln1348Arg
  • NP_001394623.1:p.Gln1348Arg
  • NP_001394624.1:p.Gln1348Arg
  • NP_001394625.1:p.Gln1348Arg
  • NP_001394626.1:p.Gln1348Arg
  • NP_001394627.1:p.Gln1348Arg
  • NP_001394653.1:p.Gln1348Arg
  • NP_001394654.1:p.Gln1348Arg
  • NP_001394655.1:p.Gln1348Arg
  • NP_001394656.1:p.Gln1348Arg
  • NP_001394657.1:p.Gln1348Arg
  • NP_001394658.1:p.Gln1348Arg
  • NP_001394659.1:p.Gln1348Arg
  • NP_001394660.1:p.Gln1348Arg
  • NP_001394661.1:p.Gln1348Arg
  • NP_001394662.1:p.Gln1348Arg
  • NP_001394663.1:p.Gln1348Arg
  • NP_001394664.1:p.Gln1348Arg
  • NP_001394665.1:p.Gln1348Arg
  • NP_001394666.1:p.Gln1348Arg
  • NP_001394667.1:p.Gln1348Arg
  • NP_001394668.1:p.Gln1348Arg
  • NP_001394669.1:p.Gln1347Arg
  • NP_001394670.1:p.Gln1347Arg
  • NP_001394671.1:p.Gln1347Arg
  • NP_001394672.1:p.Gln1347Arg
  • NP_001394673.1:p.Gln1347Arg
  • NP_001394674.1:p.Gln1347Arg
  • NP_001394675.1:p.Gln1347Arg
  • NP_001394676.1:p.Gln1347Arg
  • NP_001394677.1:p.Gln1347Arg
  • NP_001394678.1:p.Gln1347Arg
  • NP_001394679.1:p.Gln1348Arg
  • NP_001394680.1:p.Gln1348Arg
  • NP_001394681.1:p.Gln1348Arg
  • NP_001394767.1:p.Gln1347Arg
  • NP_001394768.1:p.Gln1347Arg
  • NP_001394770.1:p.Gln1347Arg
  • NP_001394771.1:p.Gln1347Arg
  • NP_001394772.1:p.Gln1347Arg
  • NP_001394773.1:p.Gln1347Arg
  • NP_001394774.1:p.Gln1347Arg
  • NP_001394775.1:p.Gln1347Arg
  • NP_001394776.1:p.Gln1347Arg
  • NP_001394777.1:p.Gln1347Arg
  • NP_001394778.1:p.Gln1347Arg
  • NP_001394779.1:p.Gln1348Arg
  • NP_001394780.1:p.Gln1348Arg
  • NP_001394781.1:p.Gln1348Arg
  • NP_001394782.1:p.Gln1324Arg
  • NP_001394783.1:p.Gln1395Arg
  • NP_001394787.1:p.Gln1395Arg
  • NP_001394788.1:p.Gln1395Arg
  • NP_001394789.1:p.Gln1394Arg
  • NP_001394790.1:p.Gln1394Arg
  • NP_001394791.1:p.Gln1328Arg
  • NP_001394792.1:p.Gln1354Arg
  • NP_001394803.1:p.Gln1327Arg
  • NP_001394804.1:p.Gln1327Arg
  • NP_001394808.1:p.Gln1325Arg
  • NP_001394810.1:p.Gln1325Arg
  • NP_001394811.1:p.Gln1325Arg
  • NP_001394813.1:p.Gln1325Arg
  • NP_001394814.1:p.Gln1325Arg
  • NP_001394815.1:p.Gln1325Arg
  • NP_001394816.1:p.Gln1325Arg
  • NP_001394818.1:p.Gln1325Arg
  • NP_001394823.1:p.Gln1324Arg
  • NP_001394824.1:p.Gln1324Arg
  • NP_001394825.1:p.Gln1324Arg
  • NP_001394826.1:p.Gln1324Arg
  • NP_001394827.1:p.Gln1324Arg
  • NP_001394828.1:p.Gln1324Arg
  • NP_001394829.1:p.Gln1325Arg
  • NP_001394831.1:p.Gln1325Arg
  • NP_001394833.1:p.Gln1325Arg
  • NP_001394835.1:p.Gln1325Arg
  • NP_001394836.1:p.Gln1325Arg
  • NP_001394837.1:p.Gln1325Arg
  • NP_001394838.1:p.Gln1325Arg
  • NP_001394839.1:p.Gln1325Arg
  • NP_001394844.1:p.Gln1324Arg
  • NP_001394845.1:p.Gln1324Arg
  • NP_001394846.1:p.Gln1324Arg
  • NP_001394847.1:p.Gln1324Arg
  • NP_001394848.1:p.Gln1354Arg
  • NP_001394849.1:p.Gln1307Arg
  • NP_001394850.1:p.Gln1307Arg
  • NP_001394851.1:p.Gln1307Arg
  • NP_001394852.1:p.Gln1307Arg
  • NP_001394853.1:p.Gln1307Arg
  • NP_001394854.1:p.Gln1307Arg
  • NP_001394855.1:p.Gln1307Arg
  • NP_001394856.1:p.Gln1307Arg
  • NP_001394857.1:p.Gln1307Arg
  • NP_001394858.1:p.Gln1307Arg
  • NP_001394859.1:p.Gln1306Arg
  • NP_001394860.1:p.Gln1306Arg
  • NP_001394861.1:p.Gln1306Arg
  • NP_001394862.1:p.Gln1307Arg
  • NP_001394863.1:p.Gln1306Arg
  • NP_001394864.1:p.Gln1307Arg
  • NP_001394865.1:p.Gln1306Arg
  • NP_001394866.1:p.Gln1354Arg
  • NP_001394867.1:p.Gln1354Arg
  • NP_001394868.1:p.Gln1354Arg
  • NP_001394869.1:p.Gln1353Arg
  • NP_001394870.1:p.Gln1353Arg
  • NP_001394871.1:p.Gln1348Arg
  • NP_001394872.1:p.Gln1347Arg
  • NP_001394873.1:p.Gln1348Arg
  • NP_001394874.1:p.Gln1348Arg
  • NP_001394875.1:p.Gln1284Arg
  • NP_001394876.1:p.Gln1284Arg
  • NP_001394877.1:p.Gln1284Arg
  • NP_001394878.1:p.Gln1284Arg
  • NP_001394879.1:p.Gln1284Arg
  • NP_001394880.1:p.Gln1284Arg
  • NP_001394881.1:p.Gln1284Arg
  • NP_001394882.1:p.Gln1284Arg
  • NP_001394883.1:p.Gln1283Arg
  • NP_001394884.1:p.Gln1283Arg
  • NP_001394885.1:p.Gln1283Arg
  • NP_001394886.1:p.Gln1284Arg
  • NP_001394887.1:p.Gln1283Arg
  • NP_001394888.1:p.Gln1268Arg
  • NP_001394889.1:p.Gln1268Arg
  • NP_001394891.1:p.Gln1267Arg
  • NP_001394892.1:p.Gln1268Arg
  • NP_001394893.1:p.Gln1347Arg
  • NP_001394894.1:p.Gln1227Arg
  • NP_001394895.1:p.Gln1099Arg
  • NP_001394896.1:p.Gln1099Arg
  • NP_001394897.1:p.Gln527Arg
  • NP_001394898.1:p.Gln527Arg
  • NP_001394899.1:p.Gln292Arg
  • NP_001394900.1:p.Gln292Arg
  • NP_001394901.1:p.Gln291Arg
  • NP_001394902.1:p.Gln292Arg
  • NP_001394903.1:p.Gln292Arg
  • NP_001394904.1:p.Gln292Arg
  • NP_001394905.1:p.Gln292Arg
  • NP_001394906.1:p.Gln292Arg
  • NP_001394907.1:p.Gln292Arg
  • NP_001394908.1:p.Gln292Arg
  • NP_001394909.1:p.Gln292Arg
  • NP_001394910.1:p.Gln292Arg
  • NP_001394911.1:p.Gln292Arg
  • NP_001394912.1:p.Gln292Arg
  • NP_001394913.1:p.Gln291Arg
  • NP_001394914.1:p.Gln291Arg
  • NP_001394915.1:p.Gln291Arg
  • NP_001394919.1:p.Gln292Arg
  • NP_001394920.1:p.Gln291Arg
  • NP_001394921.1:p.Gln291Arg
  • NP_001394922.1:p.Gln292Arg
  • NP_001395321.1:p.Gln291Arg
  • NP_001395325.1:p.Gln291Arg
  • NP_001395326.1:p.Gln291Arg
  • NP_001395327.1:p.Gln291Arg
  • NP_001395328.1:p.Gln291Arg
  • NP_001395329.1:p.Gln291Arg
  • NP_001395330.1:p.Gln291Arg
  • NP_001395331.1:p.Gln291Arg
  • NP_001395332.1:p.Gln292Arg
  • NP_001395333.1:p.Gln292Arg
  • NP_001395335.1:p.Gln290Arg
  • NP_001395336.1:p.Gln291Arg
  • NP_001395337.1:p.Gln289Arg
  • NP_001395338.1:p.Gln266Arg
  • NP_001395339.1:p.Gln245Arg
  • NP_001395340.1:p.Gln266Arg
  • NP_001395341.1:p.Gln266Arg
  • NP_001395342.1:p.Gln265Arg
  • NP_001395343.1:p.Gln266Arg
  • NP_001395344.1:p.Gln266Arg
  • NP_001395345.1:p.Gln265Arg
  • NP_001395347.1:p.Gln253Arg
  • NP_001395348.1:p.Gln253Arg
  • NP_001395349.1:p.Gln253Arg
  • NP_001395350.1:p.Gln252Arg
  • NP_001395351.1:p.Gln253Arg
  • NP_001395352.1:p.Gln253Arg
  • NP_001395353.1:p.Gln252Arg
  • NP_001395354.1:p.Gln251Arg
  • NP_001395355.1:p.Gln251Arg
  • NP_001395356.1:p.Gln251Arg
  • NP_001395357.1:p.Gln251Arg
  • NP_001395358.1:p.Gln251Arg
  • NP_001395359.1:p.Gln251Arg
  • NP_001395360.1:p.Gln252Arg
  • NP_001395361.1:p.Gln250Arg
  • NP_001395362.1:p.Gln250Arg
  • NP_001395363.1:p.Gln250Arg
  • NP_001395364.1:p.Gln250Arg
  • NP_001395365.1:p.Gln251Arg
  • NP_001395366.1:p.Gln251Arg
  • NP_001395367.1:p.Gln251Arg
  • NP_001395368.1:p.Gln251Arg
  • NP_001395369.1:p.Gln251Arg
  • NP_001395370.1:p.Gln251Arg
  • NP_001395371.1:p.Gln251Arg
  • NP_001395372.1:p.Gln251Arg
  • NP_001395373.1:p.Gln251Arg
  • NP_001395374.1:p.Gln250Arg
  • NP_001395375.1:p.Gln250Arg
  • NP_001395376.1:p.Gln250Arg
  • NP_001395377.1:p.Gln250Arg
  • NP_001395379.1:p.Gln250Arg
  • NP_001395380.1:p.Gln247Arg
  • NP_001395381.1:p.Gln245Arg
  • NP_001395382.1:p.Gln245Arg
  • NP_001395383.1:p.Gln245Arg
  • NP_001395384.1:p.Gln245Arg
  • NP_001395385.1:p.Gln245Arg
  • NP_001395386.1:p.Gln245Arg
  • NP_001395387.1:p.Gln245Arg
  • NP_001395388.1:p.Gln245Arg
  • NP_001395389.1:p.Gln245Arg
  • NP_001395390.1:p.Gln245Arg
  • NP_001395391.1:p.Gln244Arg
  • NP_001395392.1:p.Gln244Arg
  • NP_001395393.1:p.Gln244Arg
  • NP_001395394.1:p.Gln244Arg
  • NP_001395395.1:p.Gln245Arg
  • NP_001395396.1:p.Gln245Arg
  • NP_001395397.1:p.Gln244Arg
  • NP_001395398.1:p.Gln245Arg
  • NP_001395399.1:p.Gln244Arg
  • NP_001395401.1:p.Gln292Arg
  • NP_001395402.1:p.Gln291Arg
  • NP_001395403.1:p.Gln225Arg
  • NP_001395404.1:p.Gln224Arg
  • NP_001395405.1:p.Gln225Arg
  • NP_001395407.1:p.Gln222Arg
  • NP_001395408.1:p.Gln222Arg
  • NP_001395409.1:p.Gln222Arg
  • NP_001395410.1:p.Gln222Arg
  • NP_001395411.1:p.Gln222Arg
  • NP_001395412.1:p.Gln222Arg
  • NP_001395413.1:p.Gln222Arg
  • NP_001395414.1:p.Gln222Arg
  • NP_001395418.1:p.Gln222Arg
  • NP_001395419.1:p.Gln221Arg
  • NP_001395420.1:p.Gln221Arg
  • NP_001395421.1:p.Gln222Arg
  • NP_001395422.1:p.Gln221Arg
  • NP_001395423.1:p.Gln212Arg
  • NP_001395424.1:p.Gln211Arg
  • NP_001395425.1:p.Gln204Arg
  • NP_001395426.1:p.Gln204Arg
  • NP_001395427.1:p.Gln204Arg
  • NP_001395428.1:p.Gln204Arg
  • NP_001395429.1:p.Gln204Arg
  • NP_001395430.1:p.Gln204Arg
  • NP_001395431.1:p.Gln181Arg
  • NP_001395432.1:p.Gln203Arg
  • NP_001395433.1:p.Gln203Arg
  • NP_001395434.1:p.Gln203Arg
  • NP_001395435.1:p.Gln183Arg
  • NP_001395436.1:p.Gln183Arg
  • NP_001395437.1:p.Gln180Arg
  • NP_001395438.1:p.Gln180Arg
  • NP_001395439.1:p.Gln165Arg
  • NP_001395440.1:p.Gln164Arg
  • NP_001395441.1:p.Gln124Arg
  • NP_001395442.1:p.Gln222Arg
  • NP_001395443.1:p.Gln222Arg
  • NP_009225.1:p.Gln1395Arg
  • NP_009225.1:p.Gln1395Arg
  • NP_009228.2:p.Gln1348Arg
  • NP_009229.2:p.Gln292Arg
  • NP_009229.2:p.Gln292Arg
  • NP_009230.2:p.Gln292Arg
  • NP_009231.2:p.Gln1395Arg
  • NP_009235.2:p.Gln292Arg
  • LRG_292t1:c.4184A>G
  • LRG_292:g.127039A>G
  • LRG_292p1:p.Gln1395Arg
  • NC_000017.10:g.41242962T>C
  • NM_007294.3:c.4184A>G
  • NM_007298.3:c.875A>G
  • NR_027676.2:n.4361A>G
  • U14680.1:n.4303A>G
Nucleotide change:
4303A>G
Protein change:
Q1099R
Links:
dbSNP: rs80356972
NCBI 1000 Genomes Browser:
rs80356972
Molecular consequence:
  • NM_001407571.1:c.3971A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.4184A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.4184A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.4184A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.4184A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.4181A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.4181A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.4181A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.4184A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.4184A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.4184A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.4184A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.4184A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.4184A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.4184A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.4184A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.4181A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.4181A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.4181A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.4181A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.4181A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.4181A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.4184A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.4184A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.4184A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.4184A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.4184A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.4184A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.4184A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.4184A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.4184A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.4184A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.4184A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.4181A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.4181A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.4181A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.4181A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.4181A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.4181A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.4181A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.4181A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.4181A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.4181A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.4181A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.4181A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.4184A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.4184A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.4184A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.4184A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.4181A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.4181A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.4175A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.4175A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.4058A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.4184A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.4106A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.4106A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.4106A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.4106A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.4106A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.4106A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.4103A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.4103A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.4103A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.4103A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.4106A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.4058A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.4058A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.4058A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.4058A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.4184A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.4058A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.4058A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.4058A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.4058A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.4058A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.4058A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.4058A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.4043A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.4043A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.4043A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.4043A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.4043A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.4043A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.4043A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.4043A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.4043A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.4043A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.4043A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.4043A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.4043A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.4043A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.4043A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.4043A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.4043A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.4043A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.4043A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.4043A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.4043A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.4043A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.4040A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.4040A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.4040A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.4040A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.4040A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.4040A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.4040A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.4040A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.4040A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.4040A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.4043A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.4043A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.4043A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.4040A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.4040A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.4040A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.4040A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.4040A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.4040A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.4040A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.4040A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.4040A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.4040A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.4040A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.4043A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.4043A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.4043A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.3971A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.4184A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.4184A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.4184A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.4181A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.4181A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.3983A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.3980A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.3980A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.3974A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.3974A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.3974A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.3974A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.3974A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.3974A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.3974A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.3974A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.3971A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.3971A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.3971A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.3971A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.3971A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.3971A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.3974A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.3974A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.3974A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.3974A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.3974A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.3974A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.3974A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.3974A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.3971A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.3971A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.3971A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.3971A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.3920A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.3920A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.3920A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.3920A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.3920A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.3920A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.3920A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.3920A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.3920A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.3920A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.3917A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.3917A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.3917A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.3920A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.3917A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.3920A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.3917A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.4058A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.4058A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.4043A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.4040A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.4043A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.4043A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.3851A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.3851A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.3851A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.3851A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.3851A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.3851A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.3851A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.3851A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.3848A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.3848A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.3848A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.3851A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.3848A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.3803A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.3803A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.3800A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.3803A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.4040A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.3680A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.3296A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.3296A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.1580A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.1580A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407970.1:c.875A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407971.1:c.875A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407972.1:c.872A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407973.1:c.875A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407974.1:c.875A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407975.1:c.875A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407976.1:c.875A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407977.1:c.875A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407978.1:c.875A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407979.1:c.875A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407980.1:c.875A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407981.1:c.875A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407982.1:c.875A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407983.1:c.875A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407984.1:c.872A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407985.1:c.872A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407986.1:c.872A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407990.1:c.875A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407991.1:c.872A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407992.1:c.872A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407993.1:c.875A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408392.1:c.872A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408396.1:c.872A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408397.1:c.872A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408398.1:c.872A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408399.1:c.872A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408400.1:c.872A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408401.1:c.872A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408402.1:c.872A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408403.1:c.875A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408404.1:c.875A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408406.1:c.869A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408407.1:c.872A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408408.1:c.866A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408409.1:c.797A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408410.1:c.734A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408411.1:c.797A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408412.1:c.797A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408413.1:c.794A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408414.1:c.797A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408415.1:c.797A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408416.1:c.794A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408418.1:c.758A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408419.1:c.758A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408420.1:c.758A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408421.1:c.755A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408422.1:c.758A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408423.1:c.758A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408424.1:c.755A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408425.1:c.752A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408426.1:c.752A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408427.1:c.752A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408428.1:c.752A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408429.1:c.752A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408430.1:c.752A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408431.1:c.755A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408432.1:c.749A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408433.1:c.749A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408434.1:c.749A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408435.1:c.749A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408436.1:c.752A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408437.1:c.752A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408438.1:c.752A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408439.1:c.752A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408440.1:c.752A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408441.1:c.752A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408442.1:c.752A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408443.1:c.752A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408444.1:c.752A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408445.1:c.749A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408446.1:c.749A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408447.1:c.749A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408448.1:c.749A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408450.1:c.749A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408451.1:c.740A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408452.1:c.734A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408453.1:c.734A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408454.1:c.734A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408455.1:c.734A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408456.1:c.734A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408457.1:c.734A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408458.1:c.734A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408459.1:c.734A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408460.1:c.734A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408461.1:c.734A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408462.1:c.731A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408463.1:c.731A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408464.1:c.731A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408465.1:c.731A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408466.1:c.734A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408467.1:c.734A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408468.1:c.731A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408469.1:c.734A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408470.1:c.731A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408472.1:c.875A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408473.1:c.872A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408474.1:c.674A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408475.1:c.671A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408476.1:c.674A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408478.1:c.665A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408479.1:c.665A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408480.1:c.665A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408481.1:c.665A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408482.1:c.665A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408483.1:c.665A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408484.1:c.665A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408485.1:c.665A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408489.1:c.665A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408490.1:c.662A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408491.1:c.662A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408492.1:c.665A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408493.1:c.662A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408494.1:c.635A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408495.1:c.632A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408496.1:c.611A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408497.1:c.611A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408498.1:c.611A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408499.1:c.611A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408500.1:c.611A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408501.1:c.611A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408502.1:c.542A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408503.1:c.608A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408504.1:c.608A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408505.1:c.608A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408506.1:c.548A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408507.1:c.548A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408508.1:c.539A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408509.1:c.539A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408510.1:c.494A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408511.1:c.491A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408512.1:c.371A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408513.1:c.665A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408514.1:c.665A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.4184A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.4043A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.4:c.875A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007299.4:c.875A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.4184A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007304.2:c.875A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.4361A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
4

Condition(s)

Name:
Breast-ovarian cancer, familial, susceptibility to, 1 (BROVCA1)
Synonyms:
OVARIAN CANCER, SUSCEPTIBILITY TO; Breast-ovarian cancer, familial 1; Breast cancer, familial 1
Identifiers:
MONDO: MONDO:0011450; MedGen: C2676676; Orphanet: 145; OMIM: 604370

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000109367Sharing Clinical Reports Project (SCRP)
no assertion criteria provided
Likely benign
(Jan 10, 2012) 		germlineclinical testing

SCV000145007Breast Cancer Information Core (BIC) (BRCA1)
no assertion criteria provided
Uncertain significance
(Nov 25, 2004) 		germlineclinical testing

SCV004828009All of Us Research Program, National Institutes of Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain Significance
(Aug 28, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided2not providednot provided2not providedclinical testing
not providedgermlineunknown1not providednot provided108544not providedclinical testing
Central/Eastern Europeangermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Breast cancer in young women (YBC): prevalence of BRCA1/2 mutations and risk of secondary malignancies across diverse racial groups.

Haffty BG, Choi DH, Goyal S, Silber A, Ranieri K, Matloff E, Lee MH, Nissenblatt M, Toppmeyer D, Moran MS.

Ann Oncol. 2009 Oct;20(10):1653-9. doi: 10.1093/annonc/mdp051. Epub 2009 Jun 2.

PubMed [citation]
PMID:
19491284

Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance.

Woods NT, Baskin R, Golubeva V, Jhuraney A, De-Gregoriis G, Vaclova T, Goldgar DE, Couch FJ, Carvalho MA, Iversen ES, Monteiro AN.

NPJ Genom Med. 2016;1. doi:pii: 16001. 10.1038/npjgenmed.2016.1. Epub 2016 Mar 2.

PubMed [citation]
PMID:
28781887
PMCID:
PMC5539989
See all PubMed Citations (8)

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000109367.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot provided2not providednot providednot providednot providednot providednot provided

From Breast Cancer Information Core (BIC) (BRCA1), SCV000145007.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Central/Eastern European1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From All of Us Research Program, National Institutes of Health, SCV004828009.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (8)

Description

This missense variant replaces glutamine with arginine at codon 1395 of the BRCA1 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). Functional assays have reported that this variant does not impact transcription activation (PMID: 30765603, 32377563) and disrupted PALB2 binding in a mammalian two-hybrid assay (PMID: 28781887). The reference Gln1395 along with Thr1394 for a TQ motif that may be important for ATM/ATR recognition during DNA damage response and cell cycle checkpoint (PMID: 34301763). This variant has been reported in an individual affected with breast cancer (PMID: 19491284) and multifactorial analysese have reported likelihood ratios for pathogenicity based on co-occurrence with a pathogenic covariant, family history and personal and family history of cancer of 1.1391, 0.0272 and 0.958, respectively (PMID: 31131967, 31853058). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown108544not providednot provided1not providednot providednot provided

Last Updated: Jun 2, 2024