NM_007294.4(BRCA1):c.1040T>A (p.Leu347Gln) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 23, 2018
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:: RCV000759486.4

Allele description [Variation Report for NM_007294.4(BRCA1):c.1040T>A (p.Leu347Gln)]

NM_007294.4(BRCA1):c.1040T>A (p.Leu347Gln)

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.1040T>A (p.Leu347Gln)

HGVS:

NC_000017.11:g.43094491A>T
NG_005905.2:g.123493T>A
NM_001407571.1:c.827T>A
NM_001407581.1:c.1040T>A
NM_001407582.1:c.1040T>A
NM_001407583.1:c.1040T>A
NM_001407585.1:c.1040T>A
NM_001407587.1:c.1037T>A
NM_001407590.1:c.1037T>A
NM_001407591.1:c.1037T>A
NM_001407593.1:c.1040T>A
NM_001407594.1:c.1040T>A
NM_001407596.1:c.1040T>A
NM_001407597.1:c.1040T>A
NM_001407598.1:c.1040T>A
NM_001407602.1:c.1040T>A
NM_001407603.1:c.1040T>A
NM_001407605.1:c.1040T>A
NM_001407610.1:c.1037T>A
NM_001407611.1:c.1037T>A
NM_001407612.1:c.1037T>A
NM_001407613.1:c.1037T>A
NM_001407614.1:c.1037T>A
NM_001407615.1:c.1037T>A
NM_001407616.1:c.1040T>A
NM_001407617.1:c.1040T>A
NM_001407618.1:c.1040T>A
NM_001407619.1:c.1040T>A
NM_001407620.1:c.1040T>A
NM_001407621.1:c.1040T>A
NM_001407622.1:c.1040T>A
NM_001407623.1:c.1040T>A
NM_001407624.1:c.1040T>A
NM_001407625.1:c.1040T>A
NM_001407626.1:c.1040T>A
NM_001407627.1:c.1037T>A
NM_001407628.1:c.1037T>A
NM_001407629.1:c.1037T>A
NM_001407630.1:c.1037T>A
NM_001407631.1:c.1037T>A
NM_001407632.1:c.1037T>A
NM_001407633.1:c.1037T>A
NM_001407634.1:c.1037T>A
NM_001407635.1:c.1037T>A
NM_001407636.1:c.1037T>A
NM_001407637.1:c.1037T>A
NM_001407638.1:c.1037T>A
NM_001407639.1:c.1040T>A
NM_001407640.1:c.1040T>A
NM_001407641.1:c.1040T>A
NM_001407642.1:c.1040T>A
NM_001407644.1:c.1037T>A
NM_001407645.1:c.1037T>A
NM_001407646.1:c.1031T>A
NM_001407647.1:c.1031T>A
NM_001407648.1:c.917T>A
NM_001407649.1:c.914T>A
NM_001407652.1:c.1040T>A
NM_001407653.1:c.962T>A
NM_001407654.1:c.962T>A
NM_001407655.1:c.962T>A
NM_001407656.1:c.962T>A
NM_001407657.1:c.962T>A
NM_001407658.1:c.962T>A
NM_001407659.1:c.959T>A
NM_001407660.1:c.959T>A
NM_001407661.1:c.959T>A
NM_001407662.1:c.959T>A
NM_001407663.1:c.962T>A
NM_001407664.1:c.917T>A
NM_001407665.1:c.917T>A
NM_001407666.1:c.917T>A
NM_001407667.1:c.917T>A
NM_001407668.1:c.917T>A
NM_001407669.1:c.917T>A
NM_001407670.1:c.914T>A
NM_001407671.1:c.914T>A
NM_001407672.1:c.914T>A
NM_001407673.1:c.914T>A
NM_001407674.1:c.917T>A
NM_001407675.1:c.917T>A
NM_001407676.1:c.917T>A
NM_001407677.1:c.917T>A
NM_001407678.1:c.917T>A
NM_001407679.1:c.917T>A
NM_001407680.1:c.917T>A
NM_001407681.1:c.917T>A
NM_001407682.1:c.917T>A
NM_001407683.1:c.917T>A
NM_001407684.1:c.1040T>A
NM_001407685.1:c.914T>A
NM_001407686.1:c.914T>A
NM_001407687.1:c.914T>A
NM_001407688.1:c.914T>A
NM_001407689.1:c.914T>A
NM_001407690.1:c.914T>A
NM_001407691.1:c.914T>A
NM_001407692.1:c.899T>A
NM_001407694.1:c.899T>A
NM_001407695.1:c.899T>A
NM_001407696.1:c.899T>A
NM_001407697.1:c.899T>A
NM_001407698.1:c.899T>A
NM_001407724.1:c.899T>A
NM_001407725.1:c.899T>A
NM_001407726.1:c.899T>A
NM_001407727.1:c.899T>A
NM_001407728.1:c.899T>A
NM_001407729.1:c.899T>A
NM_001407730.1:c.899T>A
NM_001407731.1:c.899T>A
NM_001407732.1:c.899T>A
NM_001407733.1:c.899T>A
NM_001407734.1:c.899T>A
NM_001407735.1:c.899T>A
NM_001407736.1:c.899T>A
NM_001407737.1:c.899T>A
NM_001407738.1:c.899T>A
NM_001407739.1:c.899T>A
NM_001407740.1:c.896T>A
NM_001407741.1:c.896T>A
NM_001407742.1:c.896T>A
NM_001407743.1:c.896T>A
NM_001407744.1:c.896T>A
NM_001407745.1:c.896T>A
NM_001407746.1:c.896T>A
NM_001407747.1:c.896T>A
NM_001407748.1:c.896T>A
NM_001407749.1:c.896T>A
NM_001407750.1:c.899T>A
NM_001407751.1:c.899T>A
NM_001407752.1:c.899T>A
NM_001407838.1:c.896T>A
NM_001407839.1:c.896T>A
NM_001407841.1:c.896T>A
NM_001407842.1:c.896T>A
NM_001407843.1:c.896T>A
NM_001407844.1:c.896T>A
NM_001407845.1:c.896T>A
NM_001407846.1:c.896T>A
NM_001407847.1:c.896T>A
NM_001407848.1:c.896T>A
NM_001407849.1:c.896T>A
NM_001407850.1:c.899T>A
NM_001407851.1:c.899T>A
NM_001407852.1:c.899T>A
NM_001407853.1:c.827T>A
NM_001407854.1:c.1040T>A
NM_001407858.1:c.1040T>A
NM_001407859.1:c.1040T>A
NM_001407860.1:c.1037T>A
NM_001407861.1:c.1037T>A
NM_001407862.1:c.839T>A
NM_001407863.1:c.917T>A
NM_001407874.1:c.836T>A
NM_001407875.1:c.836T>A
NM_001407879.1:c.830T>A
NM_001407881.1:c.830T>A
NM_001407882.1:c.830T>A
NM_001407884.1:c.830T>A
NM_001407885.1:c.830T>A
NM_001407886.1:c.830T>A
NM_001407887.1:c.830T>A
NM_001407889.1:c.830T>A
NM_001407894.1:c.827T>A
NM_001407895.1:c.827T>A
NM_001407896.1:c.827T>A
NM_001407897.1:c.827T>A
NM_001407898.1:c.827T>A
NM_001407899.1:c.827T>A
NM_001407900.1:c.830T>A
NM_001407902.1:c.830T>A
NM_001407904.1:c.830T>A
NM_001407906.1:c.830T>A
NM_001407907.1:c.830T>A
NM_001407908.1:c.830T>A
NM_001407909.1:c.830T>A
NM_001407910.1:c.830T>A
NM_001407915.1:c.827T>A
NM_001407916.1:c.827T>A
NM_001407917.1:c.827T>A
NM_001407918.1:c.827T>A
NM_001407919.1:c.917T>A
NM_001407920.1:c.776T>A
NM_001407921.1:c.776T>A
NM_001407922.1:c.776T>A
NM_001407923.1:c.776T>A
NM_001407924.1:c.776T>A
NM_001407925.1:c.776T>A
NM_001407926.1:c.776T>A
NM_001407927.1:c.776T>A
NM_001407928.1:c.776T>A
NM_001407929.1:c.776T>A
NM_001407930.1:c.773T>A
NM_001407931.1:c.773T>A
NM_001407932.1:c.773T>A
NM_001407933.1:c.776T>A
NM_001407934.1:c.773T>A
NM_001407935.1:c.776T>A
NM_001407936.1:c.773T>A
NM_001407937.1:c.917T>A
NM_001407938.1:c.917T>A
NM_001407939.1:c.917T>A
NM_001407940.1:c.914T>A
NM_001407941.1:c.914T>A
NM_001407942.1:c.899T>A
NM_001407943.1:c.896T>A
NM_001407944.1:c.899T>A
NM_001407945.1:c.899T>A
NM_001407946.1:c.707T>A
NM_001407947.1:c.707T>A
NM_001407948.1:c.707T>A
NM_001407949.1:c.707T>A
NM_001407950.1:c.707T>A
NM_001407951.1:c.707T>A
NM_001407952.1:c.707T>A
NM_001407953.1:c.707T>A
NM_001407954.1:c.704T>A
NM_001407955.1:c.704T>A
NM_001407956.1:c.704T>A
NM_001407957.1:c.707T>A
NM_001407958.1:c.704T>A
NM_001407959.1:c.659T>A
NM_001407960.1:c.659T>A
NM_001407962.1:c.656T>A
NM_001407963.1:c.659T>A
NM_001407964.1:c.896T>A
NM_001407965.1:c.536T>A
NM_001407966.1:c.152T>A
NM_001407967.1:c.152T>A
NM_001407968.1:c.787+253T>A
NM_001407969.1:c.787+253T>A
NM_001407970.1:c.787+253T>A
NM_001407971.1:c.787+253T>A
NM_001407972.1:c.784+253T>A
NM_001407973.1:c.787+253T>A
NM_001407974.1:c.787+253T>A
NM_001407975.1:c.787+253T>A
NM_001407976.1:c.787+253T>A
NM_001407977.1:c.787+253T>A
NM_001407978.1:c.787+253T>A
NM_001407979.1:c.787+253T>A
NM_001407980.1:c.787+253T>A
NM_001407981.1:c.787+253T>A
NM_001407982.1:c.787+253T>A
NM_001407983.1:c.787+253T>A
NM_001407984.1:c.784+253T>A
NM_001407985.1:c.784+253T>A
NM_001407986.1:c.784+253T>A
NM_001407990.1:c.787+253T>A
NM_001407991.1:c.784+253T>A
NM_001407992.1:c.784+253T>A
NM_001407993.1:c.787+253T>A
NM_001408392.1:c.784+253T>A
NM_001408396.1:c.784+253T>A
NM_001408397.1:c.784+253T>A
NM_001408398.1:c.784+253T>A
NM_001408399.1:c.784+253T>A
NM_001408400.1:c.784+253T>A
NM_001408401.1:c.784+253T>A
NM_001408402.1:c.784+253T>A
NM_001408403.1:c.787+253T>A
NM_001408404.1:c.787+253T>A
NM_001408406.1:c.790+250T>A
NM_001408407.1:c.784+253T>A
NM_001408408.1:c.778+253T>A
NM_001408409.1:c.709+253T>A
NM_001408410.1:c.646+253T>A
NM_001408411.1:c.709+253T>A
NM_001408412.1:c.709+253T>A
NM_001408413.1:c.706+253T>A
NM_001408414.1:c.709+253T>A
NM_001408415.1:c.709+253T>A
NM_001408416.1:c.706+253T>A
NM_001408418.1:c.670+1355T>A
NM_001408419.1:c.670+1355T>A
NM_001408420.1:c.670+1355T>A
NM_001408421.1:c.667+1355T>A
NM_001408422.1:c.670+1355T>A
NM_001408423.1:c.670+1355T>A
NM_001408424.1:c.667+1355T>A
NM_001408425.1:c.664+253T>A
NM_001408426.1:c.664+253T>A
NM_001408427.1:c.664+253T>A
NM_001408428.1:c.664+253T>A
NM_001408429.1:c.664+253T>A
NM_001408430.1:c.664+253T>A
NM_001408431.1:c.667+1355T>A
NM_001408432.1:c.661+253T>A
NM_001408433.1:c.661+253T>A
NM_001408434.1:c.661+253T>A
NM_001408435.1:c.661+253T>A
NM_001408436.1:c.664+253T>A
NM_001408437.1:c.664+253T>A
NM_001408438.1:c.664+253T>A
NM_001408439.1:c.664+253T>A
NM_001408440.1:c.664+253T>A
NM_001408441.1:c.664+253T>A
NM_001408442.1:c.664+253T>A
NM_001408443.1:c.664+253T>A
NM_001408444.1:c.664+253T>A
NM_001408445.1:c.661+253T>A
NM_001408446.1:c.661+253T>A
NM_001408447.1:c.661+253T>A
NM_001408448.1:c.661+253T>A
NM_001408450.1:c.661+253T>A
NM_001408451.1:c.652+253T>A
NM_001408452.1:c.646+253T>A
NM_001408453.1:c.646+253T>A
NM_001408454.1:c.646+253T>A
NM_001408455.1:c.646+253T>A
NM_001408456.1:c.646+253T>A
NM_001408457.1:c.646+253T>A
NM_001408458.1:c.646+253T>A
NM_001408459.1:c.646+253T>A
NM_001408460.1:c.646+253T>A
NM_001408461.1:c.646+253T>A
NM_001408462.1:c.643+253T>A
NM_001408463.1:c.643+253T>A
NM_001408464.1:c.643+253T>A
NM_001408465.1:c.643+253T>A
NM_001408466.1:c.646+253T>A
NM_001408467.1:c.646+253T>A
NM_001408468.1:c.643+253T>A
NM_001408469.1:c.646+253T>A
NM_001408470.1:c.643+253T>A
NM_001408472.1:c.787+253T>A
NM_001408473.1:c.784+253T>A
NM_001408474.1:c.586+253T>A
NM_001408475.1:c.583+253T>A
NM_001408476.1:c.586+253T>A
NM_001408478.1:c.577+253T>A
NM_001408479.1:c.577+253T>A
NM_001408480.1:c.577+253T>A
NM_001408481.1:c.577+253T>A
NM_001408482.1:c.577+253T>A
NM_001408483.1:c.577+253T>A
NM_001408484.1:c.577+253T>A
NM_001408485.1:c.577+253T>A
NM_001408489.1:c.577+253T>A
NM_001408490.1:c.574+253T>A
NM_001408491.1:c.574+253T>A
NM_001408492.1:c.577+253T>A
NM_001408493.1:c.574+253T>A
NM_001408494.1:c.548-3459T>A
NM_001408495.1:c.545-3459T>A
NM_001408496.1:c.523+253T>A
NM_001408497.1:c.523+253T>A
NM_001408498.1:c.523+253T>A
NM_001408499.1:c.523+253T>A
NM_001408500.1:c.523+253T>A
NM_001408501.1:c.523+253T>A
NM_001408502.1:c.454+253T>A
NM_001408503.1:c.520+253T>A
NM_001408504.1:c.520+253T>A
NM_001408505.1:c.520+253T>A
NM_001408506.1:c.460+1355T>A
NM_001408507.1:c.460+1355T>A
NM_001408508.1:c.451+253T>A
NM_001408509.1:c.451+253T>A
NM_001408510.1:c.406+253T>A
NM_001408511.1:c.404-3459T>A
NM_001408512.1:c.283+253T>A
NM_001408513.1:c.577+253T>A
NM_001408514.1:c.577+253T>A
NM_007294.4:c.1040T>AMANE SELECT
NM_007297.4:c.899T>A
NM_007298.4:c.787+253T>A
NM_007299.4:c.787+253T>A
NM_007300.4:c.1040T>A
NP_001394500.1:p.Leu276Gln
NP_001394510.1:p.Leu347Gln
NP_001394511.1:p.Leu347Gln
NP_001394512.1:p.Leu347Gln
NP_001394514.1:p.Leu347Gln
NP_001394516.1:p.Leu346Gln
NP_001394519.1:p.Leu346Gln
NP_001394520.1:p.Leu346Gln
NP_001394522.1:p.Leu347Gln
NP_001394523.1:p.Leu347Gln
NP_001394525.1:p.Leu347Gln
NP_001394526.1:p.Leu347Gln
NP_001394527.1:p.Leu347Gln
NP_001394531.1:p.Leu347Gln
NP_001394532.1:p.Leu347Gln
NP_001394534.1:p.Leu347Gln
NP_001394539.1:p.Leu346Gln
NP_001394540.1:p.Leu346Gln
NP_001394541.1:p.Leu346Gln
NP_001394542.1:p.Leu346Gln
NP_001394543.1:p.Leu346Gln
NP_001394544.1:p.Leu346Gln
NP_001394545.1:p.Leu347Gln
NP_001394546.1:p.Leu347Gln
NP_001394547.1:p.Leu347Gln
NP_001394548.1:p.Leu347Gln
NP_001394549.1:p.Leu347Gln
NP_001394550.1:p.Leu347Gln
NP_001394551.1:p.Leu347Gln
NP_001394552.1:p.Leu347Gln
NP_001394553.1:p.Leu347Gln
NP_001394554.1:p.Leu347Gln
NP_001394555.1:p.Leu347Gln
NP_001394556.1:p.Leu346Gln
NP_001394557.1:p.Leu346Gln
NP_001394558.1:p.Leu346Gln
NP_001394559.1:p.Leu346Gln
NP_001394560.1:p.Leu346Gln
NP_001394561.1:p.Leu346Gln
NP_001394562.1:p.Leu346Gln
NP_001394563.1:p.Leu346Gln
NP_001394564.1:p.Leu346Gln
NP_001394565.1:p.Leu346Gln
NP_001394566.1:p.Leu346Gln
NP_001394567.1:p.Leu346Gln
NP_001394568.1:p.Leu347Gln
NP_001394569.1:p.Leu347Gln
NP_001394570.1:p.Leu347Gln
NP_001394571.1:p.Leu347Gln
NP_001394573.1:p.Leu346Gln
NP_001394574.1:p.Leu346Gln
NP_001394575.1:p.Leu344Gln
NP_001394576.1:p.Leu344Gln
NP_001394577.1:p.Leu306Gln
NP_001394578.1:p.Leu305Gln
NP_001394581.1:p.Leu347Gln
NP_001394582.1:p.Leu321Gln
NP_001394583.1:p.Leu321Gln
NP_001394584.1:p.Leu321Gln
NP_001394585.1:p.Leu321Gln
NP_001394586.1:p.Leu321Gln
NP_001394587.1:p.Leu321Gln
NP_001394588.1:p.Leu320Gln
NP_001394589.1:p.Leu320Gln
NP_001394590.1:p.Leu320Gln
NP_001394591.1:p.Leu320Gln
NP_001394592.1:p.Leu321Gln
NP_001394593.1:p.Leu306Gln
NP_001394594.1:p.Leu306Gln
NP_001394595.1:p.Leu306Gln
NP_001394596.1:p.Leu306Gln
NP_001394597.1:p.Leu306Gln
NP_001394598.1:p.Leu306Gln
NP_001394599.1:p.Leu305Gln
NP_001394600.1:p.Leu305Gln
NP_001394601.1:p.Leu305Gln
NP_001394602.1:p.Leu305Gln
NP_001394603.1:p.Leu306Gln
NP_001394604.1:p.Leu306Gln
NP_001394605.1:p.Leu306Gln
NP_001394606.1:p.Leu306Gln
NP_001394607.1:p.Leu306Gln
NP_001394608.1:p.Leu306Gln
NP_001394609.1:p.Leu306Gln
NP_001394610.1:p.Leu306Gln
NP_001394611.1:p.Leu306Gln
NP_001394612.1:p.Leu306Gln
NP_001394613.1:p.Leu347Gln
NP_001394614.1:p.Leu305Gln
NP_001394615.1:p.Leu305Gln
NP_001394616.1:p.Leu305Gln
NP_001394617.1:p.Leu305Gln
NP_001394618.1:p.Leu305Gln
NP_001394619.1:p.Leu305Gln
NP_001394620.1:p.Leu305Gln
NP_001394621.1:p.Leu300Gln
NP_001394623.1:p.Leu300Gln
NP_001394624.1:p.Leu300Gln
NP_001394625.1:p.Leu300Gln
NP_001394626.1:p.Leu300Gln
NP_001394627.1:p.Leu300Gln
NP_001394653.1:p.Leu300Gln
NP_001394654.1:p.Leu300Gln
NP_001394655.1:p.Leu300Gln
NP_001394656.1:p.Leu300Gln
NP_001394657.1:p.Leu300Gln
NP_001394658.1:p.Leu300Gln
NP_001394659.1:p.Leu300Gln
NP_001394660.1:p.Leu300Gln
NP_001394661.1:p.Leu300Gln
NP_001394662.1:p.Leu300Gln
NP_001394663.1:p.Leu300Gln
NP_001394664.1:p.Leu300Gln
NP_001394665.1:p.Leu300Gln
NP_001394666.1:p.Leu300Gln
NP_001394667.1:p.Leu300Gln
NP_001394668.1:p.Leu300Gln
NP_001394669.1:p.Leu299Gln
NP_001394670.1:p.Leu299Gln
NP_001394671.1:p.Leu299Gln
NP_001394672.1:p.Leu299Gln
NP_001394673.1:p.Leu299Gln
NP_001394674.1:p.Leu299Gln
NP_001394675.1:p.Leu299Gln
NP_001394676.1:p.Leu299Gln
NP_001394677.1:p.Leu299Gln
NP_001394678.1:p.Leu299Gln
NP_001394679.1:p.Leu300Gln
NP_001394680.1:p.Leu300Gln
NP_001394681.1:p.Leu300Gln
NP_001394767.1:p.Leu299Gln
NP_001394768.1:p.Leu299Gln
NP_001394770.1:p.Leu299Gln
NP_001394771.1:p.Leu299Gln
NP_001394772.1:p.Leu299Gln
NP_001394773.1:p.Leu299Gln
NP_001394774.1:p.Leu299Gln
NP_001394775.1:p.Leu299Gln
NP_001394776.1:p.Leu299Gln
NP_001394777.1:p.Leu299Gln
NP_001394778.1:p.Leu299Gln
NP_001394779.1:p.Leu300Gln
NP_001394780.1:p.Leu300Gln
NP_001394781.1:p.Leu300Gln
NP_001394782.1:p.Leu276Gln
NP_001394783.1:p.Leu347Gln
NP_001394787.1:p.Leu347Gln
NP_001394788.1:p.Leu347Gln
NP_001394789.1:p.Leu346Gln
NP_001394790.1:p.Leu346Gln
NP_001394791.1:p.Leu280Gln
NP_001394792.1:p.Leu306Gln
NP_001394803.1:p.Leu279Gln
NP_001394804.1:p.Leu279Gln
NP_001394808.1:p.Leu277Gln
NP_001394810.1:p.Leu277Gln
NP_001394811.1:p.Leu277Gln
NP_001394813.1:p.Leu277Gln
NP_001394814.1:p.Leu277Gln
NP_001394815.1:p.Leu277Gln
NP_001394816.1:p.Leu277Gln
NP_001394818.1:p.Leu277Gln
NP_001394823.1:p.Leu276Gln
NP_001394824.1:p.Leu276Gln
NP_001394825.1:p.Leu276Gln
NP_001394826.1:p.Leu276Gln
NP_001394827.1:p.Leu276Gln
NP_001394828.1:p.Leu276Gln
NP_001394829.1:p.Leu277Gln
NP_001394831.1:p.Leu277Gln
NP_001394833.1:p.Leu277Gln
NP_001394835.1:p.Leu277Gln
NP_001394836.1:p.Leu277Gln
NP_001394837.1:p.Leu277Gln
NP_001394838.1:p.Leu277Gln
NP_001394839.1:p.Leu277Gln
NP_001394844.1:p.Leu276Gln
NP_001394845.1:p.Leu276Gln
NP_001394846.1:p.Leu276Gln
NP_001394847.1:p.Leu276Gln
NP_001394848.1:p.Leu306Gln
NP_001394849.1:p.Leu259Gln
NP_001394850.1:p.Leu259Gln
NP_001394851.1:p.Leu259Gln
NP_001394852.1:p.Leu259Gln
NP_001394853.1:p.Leu259Gln
NP_001394854.1:p.Leu259Gln
NP_001394855.1:p.Leu259Gln
NP_001394856.1:p.Leu259Gln
NP_001394857.1:p.Leu259Gln
NP_001394858.1:p.Leu259Gln
NP_001394859.1:p.Leu258Gln
NP_001394860.1:p.Leu258Gln
NP_001394861.1:p.Leu258Gln
NP_001394862.1:p.Leu259Gln
NP_001394863.1:p.Leu258Gln
NP_001394864.1:p.Leu259Gln
NP_001394865.1:p.Leu258Gln
NP_001394866.1:p.Leu306Gln
NP_001394867.1:p.Leu306Gln
NP_001394868.1:p.Leu306Gln
NP_001394869.1:p.Leu305Gln
NP_001394870.1:p.Leu305Gln
NP_001394871.1:p.Leu300Gln
NP_001394872.1:p.Leu299Gln
NP_001394873.1:p.Leu300Gln
NP_001394874.1:p.Leu300Gln
NP_001394875.1:p.Leu236Gln
NP_001394876.1:p.Leu236Gln
NP_001394877.1:p.Leu236Gln
NP_001394878.1:p.Leu236Gln
NP_001394879.1:p.Leu236Gln
NP_001394880.1:p.Leu236Gln
NP_001394881.1:p.Leu236Gln
NP_001394882.1:p.Leu236Gln
NP_001394883.1:p.Leu235Gln
NP_001394884.1:p.Leu235Gln
NP_001394885.1:p.Leu235Gln
NP_001394886.1:p.Leu236Gln
NP_001394887.1:p.Leu235Gln
NP_001394888.1:p.Leu220Gln
NP_001394889.1:p.Leu220Gln
NP_001394891.1:p.Leu219Gln
NP_001394892.1:p.Leu220Gln
NP_001394893.1:p.Leu299Gln
NP_001394894.1:p.Leu179Gln
NP_001394895.1:p.Leu51Gln
NP_001394896.1:p.Leu51Gln
NP_009225.1:p.Leu347Gln
NP_009225.1:p.Leu347Gln
NP_009228.2:p.Leu300Gln
NP_009231.2:p.Leu347Gln
LRG_292t1:c.1040T>A
LRG_292:g.123493T>A
LRG_292p1:p.Leu347Gln
NC_000017.10:g.41246508A>T
NM_007294.3:c.1040T>A
NR_027676.1:n.1176T>A

Protein change:

L179Q

Links:

dbSNP: rs757987511

NCBI 1000 Genomes Browser:

rs757987511

Molecular consequence:

NM_001407968.1:c.787+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.787+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.787+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.787+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.784+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.787+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.787+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.787+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.787+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.787+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.787+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.787+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.787+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.787+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.787+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.787+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.784+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.784+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.784+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.787+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.784+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.784+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.787+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.784+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.784+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.784+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.784+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.784+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.784+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.784+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.784+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.787+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.787+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.790+250T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.784+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.778+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.709+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.646+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.709+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.709+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.706+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.709+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.709+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.706+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.670+1355T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.670+1355T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.670+1355T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.667+1355T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.670+1355T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.670+1355T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.667+1355T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.664+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.664+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.664+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.664+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.664+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.664+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.667+1355T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.661+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.661+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.661+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.661+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.664+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.664+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.664+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.664+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.664+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.664+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.664+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.664+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.664+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.661+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.661+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.661+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.661+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.661+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.652+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.646+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.646+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.646+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.646+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.646+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.646+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.646+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.646+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.646+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.646+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.643+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.643+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.643+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.643+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.646+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.646+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.643+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.646+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.643+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.787+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.784+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.586+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.583+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.586+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.577+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.577+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.577+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.577+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.577+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.577+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.577+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.577+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.577+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.574+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.574+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.577+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.574+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-3459T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-3459T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.523+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.523+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.523+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.523+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.523+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.523+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.454+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.520+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.520+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.520+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.460+1355T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.460+1355T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.451+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.451+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.406+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-3459T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.283+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.577+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.577+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.787+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.787+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407571.1:c.827T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407581.1:c.1040T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407582.1:c.1040T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407583.1:c.1040T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407585.1:c.1040T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407587.1:c.1037T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407590.1:c.1037T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407591.1:c.1037T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407593.1:c.1040T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407594.1:c.1040T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407596.1:c.1040T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407597.1:c.1040T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407598.1:c.1040T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407602.1:c.1040T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407603.1:c.1040T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407605.1:c.1040T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407610.1:c.1037T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407611.1:c.1037T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407612.1:c.1037T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407613.1:c.1037T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407614.1:c.1037T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407615.1:c.1037T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407616.1:c.1040T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407617.1:c.1040T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407618.1:c.1040T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407619.1:c.1040T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407620.1:c.1040T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407621.1:c.1040T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407622.1:c.1040T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407623.1:c.1040T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407624.1:c.1040T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407625.1:c.1040T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407626.1:c.1040T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407627.1:c.1037T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407628.1:c.1037T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407629.1:c.1037T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407630.1:c.1037T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407631.1:c.1037T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407632.1:c.1037T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407633.1:c.1037T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407634.1:c.1037T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407635.1:c.1037T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407636.1:c.1037T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407637.1:c.1037T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407638.1:c.1037T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407639.1:c.1040T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407640.1:c.1040T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407641.1:c.1040T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407642.1:c.1040T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407644.1:c.1037T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407645.1:c.1037T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407646.1:c.1031T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407647.1:c.1031T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407648.1:c.917T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407649.1:c.914T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407652.1:c.1040T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407653.1:c.962T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407654.1:c.962T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407655.1:c.962T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407656.1:c.962T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407657.1:c.962T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407658.1:c.962T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407659.1:c.959T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407660.1:c.959T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407661.1:c.959T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407662.1:c.959T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407663.1:c.962T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407664.1:c.917T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407665.1:c.917T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407666.1:c.917T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407667.1:c.917T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407668.1:c.917T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407669.1:c.917T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407670.1:c.914T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407671.1:c.914T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407672.1:c.914T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407673.1:c.914T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407674.1:c.917T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407675.1:c.917T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407676.1:c.917T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407677.1:c.917T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407678.1:c.917T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407679.1:c.917T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407680.1:c.917T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407681.1:c.917T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407682.1:c.917T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407683.1:c.917T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407684.1:c.1040T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407685.1:c.914T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407686.1:c.914T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407687.1:c.914T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407688.1:c.914T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407689.1:c.914T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407690.1:c.914T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407691.1:c.914T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407692.1:c.899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407694.1:c.899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407695.1:c.899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407696.1:c.899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407697.1:c.899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407698.1:c.899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407724.1:c.899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407725.1:c.899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407726.1:c.899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407727.1:c.899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407728.1:c.899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407729.1:c.899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407730.1:c.899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407731.1:c.899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407732.1:c.899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407733.1:c.899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407734.1:c.899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407735.1:c.899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407736.1:c.899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407737.1:c.899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407738.1:c.899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407739.1:c.899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407740.1:c.896T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407741.1:c.896T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407742.1:c.896T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407743.1:c.896T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407744.1:c.896T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407745.1:c.896T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407746.1:c.896T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407747.1:c.896T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407748.1:c.896T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407749.1:c.896T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407750.1:c.899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407751.1:c.899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407752.1:c.899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407838.1:c.896T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407839.1:c.896T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407841.1:c.896T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407842.1:c.896T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407843.1:c.896T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407844.1:c.896T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407845.1:c.896T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407846.1:c.896T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407847.1:c.896T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407848.1:c.896T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407849.1:c.896T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407850.1:c.899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407851.1:c.899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407852.1:c.899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407853.1:c.827T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407854.1:c.1040T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407858.1:c.1040T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407859.1:c.1040T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407860.1:c.1037T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407861.1:c.1037T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407862.1:c.839T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407863.1:c.917T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407874.1:c.836T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407875.1:c.836T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407879.1:c.830T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407881.1:c.830T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407882.1:c.830T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407884.1:c.830T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407885.1:c.830T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407886.1:c.830T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407887.1:c.830T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407889.1:c.830T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407894.1:c.827T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407895.1:c.827T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407896.1:c.827T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407897.1:c.827T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407898.1:c.827T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407899.1:c.827T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407900.1:c.830T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407902.1:c.830T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407904.1:c.830T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407906.1:c.830T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407907.1:c.830T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407908.1:c.830T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407909.1:c.830T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407910.1:c.830T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407915.1:c.827T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407916.1:c.827T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407917.1:c.827T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407918.1:c.827T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407919.1:c.917T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407920.1:c.776T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407921.1:c.776T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407922.1:c.776T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407923.1:c.776T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407924.1:c.776T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407925.1:c.776T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407926.1:c.776T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407927.1:c.776T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407928.1:c.776T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407929.1:c.776T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407930.1:c.773T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407931.1:c.773T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407932.1:c.773T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407933.1:c.776T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407934.1:c.773T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407935.1:c.776T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407936.1:c.773T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407937.1:c.917T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407938.1:c.917T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407939.1:c.917T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407940.1:c.914T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407941.1:c.914T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407942.1:c.899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407943.1:c.896T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407944.1:c.899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407945.1:c.899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407946.1:c.707T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407947.1:c.707T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407948.1:c.707T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407949.1:c.707T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407950.1:c.707T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407951.1:c.707T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407952.1:c.707T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407953.1:c.707T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407954.1:c.704T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407955.1:c.704T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407956.1:c.704T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407957.1:c.707T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407958.1:c.704T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407959.1:c.659T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407960.1:c.659T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407962.1:c.656T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407963.1:c.659T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407964.1:c.896T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407965.1:c.536T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407966.1:c.152T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407967.1:c.152T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007294.4:c.1040T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007297.4:c.899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007300.4:c.1040T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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RELA RELA proto-oncogene, NF-kB subunit [Homo sapiens]
RELA RELA proto-oncogene, NF-kB subunit [Homo sapiens]
Gene ID:5970

Gene
Gene Links for GEO Profiles (Select 12580911) (1)
Gene
Profile neighbors for GEO Profiles (Select 12586127) (199)
GEO Profiles
Yarrowia lipolytica strain CM52869P internal transcribed spacer 1, partial seque...
Yarrowia lipolytica strain CM52869P internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene and internal transcribed spacer 2, complete sequence; and large subunit ribosomal RNA gene, partial sequence
gi|1862629383|gb|MT671351.1|

Nucleotide
Pythium myriotylum isolate OJ6-11-403-2 cytochrome oxidase subunit 1 (COI) gene,...
Pythium myriotylum isolate OJ6-11-403-2 cytochrome oxidase subunit 1 (COI) gene, partial cds; mitochondrial
gi|560069148|gb|KF761150.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000888830	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Uncertain significance (Feb 23, 2018)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000888830

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Uncertain significance
(Feb 23, 2018)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]

PMID:: 26467025
PMCID:: PMC4737317

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000888830.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine