NM_007294.4(BRCA1):c.5585A>T (p.His1862Leu) AND Malignant tumor of breast
- Germline classification:
- Uncertain significance (1 submission)
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV001356964.10
Allele description [Variation Report for NM_007294.4(BRCA1):c.5585A>T (p.His1862Leu)]
NM_007294.4(BRCA1):c.5585A>T (p.His1862Leu)
- 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.5585A>T (p.His1862Leu)
- HGVS:
- NC_000017.11:g.43045685T>A
- NG_005905.2:g.172299A>T
- NM_001407571.1:c.5372A>T
- NM_001407581.1:c.5651A>T
- NM_001407582.1:c.5651A>T
- NM_001407583.1:c.5648A>T
- NM_001407585.1:c.5648A>T
- NM_001407587.1:c.5648A>T
- NM_001407590.1:c.5645A>T
- NM_001407591.1:c.5645A>T
- NM_001407593.1:c.5585A>T
- NM_001407594.1:c.5585A>T
- NM_001407596.1:c.5585A>T
- NM_001407597.1:c.5585A>T
- NM_001407598.1:c.5585A>T
- NM_001407602.1:c.5585A>T
- NM_001407603.1:c.5585A>T
- NM_001407605.1:c.5585A>T
- NM_001407610.1:c.5582A>T
- NM_001407611.1:c.5582A>T
- NM_001407612.1:c.5582A>T
- NM_001407613.1:c.5582A>T
- NM_001407614.1:c.5582A>T
- NM_001407615.1:c.5582A>T
- NM_001407616.1:c.5582A>T
- NM_001407617.1:c.5582A>T
- NM_001407618.1:c.5582A>T
- NM_001407619.1:c.5582A>T
- NM_001407620.1:c.5582A>T
- NM_001407621.1:c.5582A>T
- NM_001407622.1:c.5582A>T
- NM_001407623.1:c.5582A>T
- NM_001407624.1:c.5582A>T
- NM_001407625.1:c.5582A>T
- NM_001407626.1:c.5582A>T
- NM_001407627.1:c.5579A>T
- NM_001407628.1:c.5579A>T
- NM_001407629.1:c.5579A>T
- NM_001407630.1:c.5579A>T
- NM_001407631.1:c.5579A>T
- NM_001407632.1:c.5579A>T
- NM_001407633.1:c.5579A>T
- NM_001407634.1:c.5579A>T
- NM_001407635.1:c.5579A>T
- NM_001407636.1:c.5579A>T
- NM_001407637.1:c.5579A>T
- NM_001407638.1:c.5579A>T
- NM_001407639.1:c.5579A>T
- NM_001407640.1:c.5579A>T
- NM_001407641.1:c.5579A>T
- NM_001407642.1:c.5579A>T
- NM_001407644.1:c.5576A>T
- NM_001407645.1:c.5576A>T
- NM_001407646.1:c.5573A>T
- NM_001407647.1:c.5570A>T
- NM_001407648.1:c.5528A>T
- NM_001407649.1:c.5525A>T
- NM_001407652.1:c.5507A>T
- NM_001407653.1:c.5507A>T
- NM_001407654.1:c.5507A>T
- NM_001407655.1:c.5507A>T
- NM_001407656.1:c.5504A>T
- NM_001407657.1:c.5504A>T
- NM_001407658.1:c.5504A>T
- NM_001407659.1:c.5501A>T
- NM_001407660.1:c.5501A>T
- NM_001407661.1:c.5501A>T
- NM_001407662.1:c.5501A>T
- NM_001407663.1:c.5501A>T
- NM_001407664.1:c.5462A>T
- NM_001407665.1:c.5462A>T
- NM_001407666.1:c.5462A>T
- NM_001407667.1:c.5462A>T
- NM_001407668.1:c.5462A>T
- NM_001407669.1:c.5462A>T
- NM_001407670.1:c.5459A>T
- NM_001407671.1:c.5459A>T
- NM_001407672.1:c.5459A>T
- NM_001407673.1:c.5459A>T
- NM_001407674.1:c.5459A>T
- NM_001407675.1:c.5459A>T
- NM_001407676.1:c.5459A>T
- NM_001407677.1:c.5459A>T
- NM_001407678.1:c.5459A>T
- NM_001407679.1:c.5459A>T
- NM_001407680.1:c.5459A>T
- NM_001407681.1:c.5456A>T
- NM_001407682.1:c.5456A>T
- NM_001407683.1:c.5456A>T
- NM_001407684.1:c.5456A>T
- NM_001407685.1:c.5456A>T
- NM_001407686.1:c.5456A>T
- NM_001407687.1:c.5456A>T
- NM_001407688.1:c.5456A>T
- NM_001407689.1:c.5456A>T
- NM_001407690.1:c.5453A>T
- NM_001407691.1:c.5453A>T
- NM_001407692.1:c.5444A>T
- NM_001407694.1:c.5444A>T
- NM_001407695.1:c.5444A>T
- NM_001407696.1:c.5444A>T
- NM_001407697.1:c.5444A>T
- NM_001407698.1:c.5444A>T
- NM_001407724.1:c.5444A>T
- NM_001407725.1:c.5444A>T
- NM_001407726.1:c.5444A>T
- NM_001407727.1:c.5444A>T
- NM_001407728.1:c.5444A>T
- NM_001407729.1:c.5444A>T
- NM_001407730.1:c.5444A>T
- NM_001407731.1:c.5444A>T
- NM_001407732.1:c.5441A>T
- NM_001407733.1:c.5441A>T
- NM_001407734.1:c.5441A>T
- NM_001407735.1:c.5441A>T
- NM_001407736.1:c.5441A>T
- NM_001407737.1:c.5441A>T
- NM_001407738.1:c.5441A>T
- NM_001407739.1:c.5441A>T
- NM_001407740.1:c.5441A>T
- NM_001407741.1:c.5441A>T
- NM_001407742.1:c.5441A>T
- NM_001407743.1:c.5441A>T
- NM_001407744.1:c.5441A>T
- NM_001407745.1:c.5441A>T
- NM_001407746.1:c.5441A>T
- NM_001407747.1:c.5441A>T
- NM_001407748.1:c.5441A>T
- NM_001407749.1:c.5441A>T
- NM_001407750.1:c.5441A>T
- NM_001407751.1:c.5441A>T
- NM_001407752.1:c.5441A>T
- NM_001407838.1:c.5438A>T
- NM_001407839.1:c.5438A>T
- NM_001407841.1:c.5438A>T
- NM_001407842.1:c.5438A>T
- NM_001407843.1:c.5438A>T
- NM_001407844.1:c.5438A>T
- NM_001407845.1:c.5438A>T
- NM_001407846.1:c.5438A>T
- NM_001407847.1:c.5438A>T
- NM_001407848.1:c.5438A>T
- NM_001407849.1:c.5438A>T
- NM_001407850.1:c.5438A>T
- NM_001407851.1:c.5438A>T
- NM_001407852.1:c.5438A>T
- NM_001407853.1:c.5438A>T
- NM_001407854.1:c.*99A>T
- NM_001407858.1:c.*99A>T
- NM_001407859.1:c.*99A>T
- NM_001407860.1:c.*99A>T
- NM_001407861.1:c.*99A>T
- NM_001407862.1:c.5384A>T
- NM_001407863.1:c.5381A>T
- NM_001407874.1:c.5378A>T
- NM_001407875.1:c.5378A>T
- NM_001407879.1:c.5375A>T
- NM_001407881.1:c.5375A>T
- NM_001407882.1:c.5375A>T
- NM_001407884.1:c.5375A>T
- NM_001407885.1:c.5375A>T
- NM_001407886.1:c.5375A>T
- NM_001407887.1:c.5375A>T
- NM_001407889.1:c.5375A>T
- NM_001407894.1:c.5372A>T
- NM_001407895.1:c.5372A>T
- NM_001407896.1:c.5372A>T
- NM_001407897.1:c.5372A>T
- NM_001407898.1:c.5372A>T
- NM_001407899.1:c.5372A>T
- NM_001407900.1:c.5372A>T
- NM_001407902.1:c.5372A>T
- NM_001407904.1:c.5372A>T
- NM_001407906.1:c.5372A>T
- NM_001407907.1:c.5372A>T
- NM_001407908.1:c.5372A>T
- NM_001407909.1:c.5372A>T
- NM_001407910.1:c.5372A>T
- NM_001407915.1:c.5369A>T
- NM_001407916.1:c.5369A>T
- NM_001407917.1:c.5369A>T
- NM_001407918.1:c.5369A>T
- NM_001407919.1:c.5333A>T
- NM_001407920.1:c.5321A>T
- NM_001407921.1:c.5321A>T
- NM_001407922.1:c.5321A>T
- NM_001407923.1:c.5321A>T
- NM_001407924.1:c.5321A>T
- NM_001407925.1:c.5321A>T
- NM_001407926.1:c.5321A>T
- NM_001407927.1:c.5318A>T
- NM_001407928.1:c.5318A>T
- NM_001407929.1:c.5318A>T
- NM_001407930.1:c.5318A>T
- NM_001407931.1:c.5318A>T
- NM_001407932.1:c.5318A>T
- NM_001407933.1:c.5318A>T
- NM_001407934.1:c.5315A>T
- NM_001407935.1:c.5315A>T
- NM_001407936.1:c.5315A>T
- NM_001407937.1:c.*99A>T
- NM_001407938.1:c.*99A>T
- NM_001407939.1:c.*99A>T
- NM_001407940.1:c.*99A>T
- NM_001407941.1:c.*99A>T
- NM_001407942.1:c.*99A>T
- NM_001407943.1:c.*99A>T
- NM_001407944.1:c.*99A>T
- NM_001407945.1:c.*99A>T
- NM_001407946.1:c.5252A>T
- NM_001407947.1:c.5252A>T
- NM_001407948.1:c.5252A>T
- NM_001407949.1:c.5252A>T
- NM_001407950.1:c.5249A>T
- NM_001407951.1:c.5249A>T
- NM_001407952.1:c.5249A>T
- NM_001407953.1:c.5249A>T
- NM_001407954.1:c.5249A>T
- NM_001407955.1:c.5249A>T
- NM_001407956.1:c.5246A>T
- NM_001407957.1:c.5246A>T
- NM_001407958.1:c.5246A>T
- NM_001407959.1:c.5204A>T
- NM_001407960.1:c.5201A>T
- NM_001407962.1:c.5201A>T
- NM_001407963.1:c.5198A>T
- NM_001407964.1:c.5123A>T
- NM_001407965.1:c.5078A>T
- NM_001407966.1:c.4697A>T
- NM_001407967.1:c.4694A>T
- NM_001407968.1:c.2981A>T
- NM_001407969.1:c.2978A>T
- NM_001407970.1:c.2342A>T
- NM_001407971.1:c.2342A>T
- NM_001407972.1:c.2339A>T
- NM_001407973.1:c.2276A>T
- NM_001407974.1:c.2276A>T
- NM_001407975.1:c.2276A>T
- NM_001407976.1:c.2276A>T
- NM_001407977.1:c.2276A>T
- NM_001407978.1:c.2276A>T
- NM_001407979.1:c.2273A>T
- NM_001407980.1:c.2273A>T
- NM_001407981.1:c.2273A>T
- NM_001407982.1:c.2273A>T
- NM_001407983.1:c.2273A>T
- NM_001407984.1:c.2273A>T
- NM_001407985.1:c.2273A>T
- NM_001407986.1:c.2273A>T
- NM_001407990.1:c.2273A>T
- NM_001407991.1:c.2273A>T
- NM_001407992.1:c.2273A>T
- NM_001407993.1:c.2273A>T
- NM_001408392.1:c.2270A>T
- NM_001408396.1:c.2270A>T
- NM_001408397.1:c.2270A>T
- NM_001408398.1:c.2270A>T
- NM_001408399.1:c.2270A>T
- NM_001408400.1:c.2270A>T
- NM_001408401.1:c.2270A>T
- NM_001408402.1:c.2270A>T
- NM_001408403.1:c.2270A>T
- NM_001408404.1:c.2270A>T
- NM_001408406.1:c.2267A>T
- NM_001408407.1:c.2267A>T
- NM_001408408.1:c.2267A>T
- NM_001408409.1:c.2264A>T
- NM_001408410.1:c.2201A>T
- NM_001408411.1:c.2198A>T
- NM_001408412.1:c.2195A>T
- NM_001408413.1:c.2195A>T
- NM_001408414.1:c.2195A>T
- NM_001408415.1:c.2195A>T
- NM_001408416.1:c.2195A>T
- NM_001408418.1:c.2159A>T
- NM_001408419.1:c.2159A>T
- NM_001408420.1:c.2159A>T
- NM_001408421.1:c.2156A>T
- NM_001408422.1:c.2156A>T
- NM_001408423.1:c.2156A>T
- NM_001408424.1:c.2156A>T
- NM_001408425.1:c.2153A>T
- NM_001408426.1:c.2153A>T
- NM_001408427.1:c.2153A>T
- NM_001408428.1:c.2153A>T
- NM_001408429.1:c.2153A>T
- NM_001408430.1:c.2153A>T
- NM_001408431.1:c.2153A>T
- NM_001408432.1:c.2150A>T
- NM_001408433.1:c.2150A>T
- NM_001408434.1:c.2150A>T
- NM_001408435.1:c.2150A>T
- NM_001408436.1:c.2150A>T
- NM_001408437.1:c.2150A>T
- NM_001408438.1:c.2150A>T
- NM_001408439.1:c.2150A>T
- NM_001408440.1:c.2150A>T
- NM_001408441.1:c.2150A>T
- NM_001408442.1:c.2150A>T
- NM_001408443.1:c.2150A>T
- NM_001408444.1:c.2150A>T
- NM_001408445.1:c.2147A>T
- NM_001408446.1:c.2147A>T
- NM_001408447.1:c.2147A>T
- NM_001408448.1:c.2147A>T
- NM_001408450.1:c.2147A>T
- NM_001408451.1:c.2141A>T
- NM_001408452.1:c.2135A>T
- NM_001408453.1:c.2135A>T
- NM_001408454.1:c.2135A>T
- NM_001408455.1:c.2135A>T
- NM_001408456.1:c.2135A>T
- NM_001408457.1:c.2135A>T
- NM_001408458.1:c.2132A>T
- NM_001408459.1:c.2132A>T
- NM_001408460.1:c.2132A>T
- NM_001408461.1:c.2132A>T
- NM_001408462.1:c.2132A>T
- NM_001408463.1:c.2132A>T
- NM_001408464.1:c.2132A>T
- NM_001408465.1:c.2132A>T
- NM_001408466.1:c.2132A>T
- NM_001408467.1:c.2132A>T
- NM_001408468.1:c.2129A>T
- NM_001408469.1:c.2129A>T
- NM_001408470.1:c.2129A>T
- NM_001408472.1:c.*99A>T
- NM_001408473.1:c.*99A>T
- NM_001408474.1:c.2075A>T
- NM_001408475.1:c.2072A>T
- NM_001408476.1:c.2072A>T
- NM_001408478.1:c.2066A>T
- NM_001408479.1:c.2066A>T
- NM_001408480.1:c.2066A>T
- NM_001408481.1:c.2063A>T
- NM_001408482.1:c.2063A>T
- NM_001408483.1:c.2063A>T
- NM_001408484.1:c.2063A>T
- NM_001408485.1:c.2063A>T
- NM_001408489.1:c.2063A>T
- NM_001408490.1:c.2063A>T
- NM_001408491.1:c.2063A>T
- NM_001408492.1:c.2060A>T
- NM_001408493.1:c.2060A>T
- NM_001408494.1:c.2036A>T
- NM_001408495.1:c.2030A>T
- NM_001408496.1:c.2012A>T
- NM_001408497.1:c.2012A>T
- NM_001408498.1:c.2012A>T
- NM_001408499.1:c.2012A>T
- NM_001408500.1:c.2012A>T
- NM_001408501.1:c.2012A>T
- NM_001408502.1:c.2009A>T
- NM_001408503.1:c.2009A>T
- NM_001408504.1:c.2009A>T
- NM_001408505.1:c.2006A>T
- NM_001408506.1:c.1949A>T
- NM_001408507.1:c.1946A>T
- NM_001408508.1:c.1937A>T
- NM_001408509.1:c.1934A>T
- NM_001408510.1:c.1895A>T
- NM_001408511.1:c.1892A>T
- NM_001408512.1:c.1772A>T
- NM_001408513.1:c.1745A>T
- NM_001408514.1:c.1349A>T
- NM_007294.4:c.5585A>TMANE SELECT
- NM_007297.4:c.5444A>T
- NM_007298.4:c.2273A>T
- NM_007299.4:c.*99A>T
- NM_007300.4:c.5648A>T
- NM_007304.2:c.2273A>T
- NP_001394500.1:p.His1791Leu
- NP_001394510.1:p.His1884Leu
- NP_001394511.1:p.His1884Leu
- NP_001394512.1:p.His1883Leu
- NP_001394514.1:p.His1883Leu
- NP_001394516.1:p.His1883Leu
- NP_001394519.1:p.His1882Leu
- NP_001394520.1:p.His1882Leu
- NP_001394522.1:p.His1862Leu
- NP_001394523.1:p.His1862Leu
- NP_001394525.1:p.His1862Leu
- NP_001394526.1:p.His1862Leu
- NP_001394527.1:p.His1862Leu
- NP_001394531.1:p.His1862Leu
- NP_001394532.1:p.His1862Leu
- NP_001394534.1:p.His1862Leu
- NP_001394539.1:p.His1861Leu
- NP_001394540.1:p.His1861Leu
- NP_001394541.1:p.His1861Leu
- NP_001394542.1:p.His1861Leu
- NP_001394543.1:p.His1861Leu
- NP_001394544.1:p.His1861Leu
- NP_001394545.1:p.His1861Leu
- NP_001394546.1:p.His1861Leu
- NP_001394547.1:p.His1861Leu
- NP_001394548.1:p.His1861Leu
- NP_001394549.1:p.His1861Leu
- NP_001394550.1:p.His1861Leu
- NP_001394551.1:p.His1861Leu
- NP_001394552.1:p.His1861Leu
- NP_001394553.1:p.His1861Leu
- NP_001394554.1:p.His1861Leu
- NP_001394555.1:p.His1861Leu
- NP_001394556.1:p.His1860Leu
- NP_001394557.1:p.His1860Leu
- NP_001394558.1:p.His1860Leu
- NP_001394559.1:p.His1860Leu
- NP_001394560.1:p.His1860Leu
- NP_001394561.1:p.His1860Leu
- NP_001394562.1:p.His1860Leu
- NP_001394563.1:p.His1860Leu
- NP_001394564.1:p.His1860Leu
- NP_001394565.1:p.His1860Leu
- NP_001394566.1:p.His1860Leu
- NP_001394567.1:p.His1860Leu
- NP_001394568.1:p.His1860Leu
- NP_001394569.1:p.His1860Leu
- NP_001394570.1:p.His1860Leu
- NP_001394571.1:p.His1860Leu
- NP_001394573.1:p.His1859Leu
- NP_001394574.1:p.His1859Leu
- NP_001394575.1:p.His1858Leu
- NP_001394576.1:p.His1857Leu
- NP_001394577.1:p.His1843Leu
- NP_001394578.1:p.His1842Leu
- NP_001394581.1:p.His1836Leu
- NP_001394582.1:p.His1836Leu
- NP_001394583.1:p.His1836Leu
- NP_001394584.1:p.His1836Leu
- NP_001394585.1:p.His1835Leu
- NP_001394586.1:p.His1835Leu
- NP_001394587.1:p.His1835Leu
- NP_001394588.1:p.His1834Leu
- NP_001394589.1:p.His1834Leu
- NP_001394590.1:p.His1834Leu
- NP_001394591.1:p.His1834Leu
- NP_001394592.1:p.His1834Leu
- NP_001394593.1:p.His1821Leu
- NP_001394594.1:p.His1821Leu
- NP_001394595.1:p.His1821Leu
- NP_001394596.1:p.His1821Leu
- NP_001394597.1:p.His1821Leu
- NP_001394598.1:p.His1821Leu
- NP_001394599.1:p.His1820Leu
- NP_001394600.1:p.His1820Leu
- NP_001394601.1:p.His1820Leu
- NP_001394602.1:p.His1820Leu
- NP_001394603.1:p.His1820Leu
- NP_001394604.1:p.His1820Leu
- NP_001394605.1:p.His1820Leu
- NP_001394606.1:p.His1820Leu
- NP_001394607.1:p.His1820Leu
- NP_001394608.1:p.His1820Leu
- NP_001394609.1:p.His1820Leu
- NP_001394610.1:p.His1819Leu
- NP_001394611.1:p.His1819Leu
- NP_001394612.1:p.His1819Leu
- NP_001394613.1:p.His1819Leu
- NP_001394614.1:p.His1819Leu
- NP_001394615.1:p.His1819Leu
- NP_001394616.1:p.His1819Leu
- NP_001394617.1:p.His1819Leu
- NP_001394618.1:p.His1819Leu
- NP_001394619.1:p.His1818Leu
- NP_001394620.1:p.His1818Leu
- NP_001394621.1:p.His1815Leu
- NP_001394623.1:p.His1815Leu
- NP_001394624.1:p.His1815Leu
- NP_001394625.1:p.His1815Leu
- NP_001394626.1:p.His1815Leu
- NP_001394627.1:p.His1815Leu
- NP_001394653.1:p.His1815Leu
- NP_001394654.1:p.His1815Leu
- NP_001394655.1:p.His1815Leu
- NP_001394656.1:p.His1815Leu
- NP_001394657.1:p.His1815Leu
- NP_001394658.1:p.His1815Leu
- NP_001394659.1:p.His1815Leu
- NP_001394660.1:p.His1815Leu
- NP_001394661.1:p.His1814Leu
- NP_001394662.1:p.His1814Leu
- NP_001394663.1:p.His1814Leu
- NP_001394664.1:p.His1814Leu
- NP_001394665.1:p.His1814Leu
- NP_001394666.1:p.His1814Leu
- NP_001394667.1:p.His1814Leu
- NP_001394668.1:p.His1814Leu
- NP_001394669.1:p.His1814Leu
- NP_001394670.1:p.His1814Leu
- NP_001394671.1:p.His1814Leu
- NP_001394672.1:p.His1814Leu
- NP_001394673.1:p.His1814Leu
- NP_001394674.1:p.His1814Leu
- NP_001394675.1:p.His1814Leu
- NP_001394676.1:p.His1814Leu
- NP_001394677.1:p.His1814Leu
- NP_001394678.1:p.His1814Leu
- NP_001394679.1:p.His1814Leu
- NP_001394680.1:p.His1814Leu
- NP_001394681.1:p.His1814Leu
- NP_001394767.1:p.His1813Leu
- NP_001394768.1:p.His1813Leu
- NP_001394770.1:p.His1813Leu
- NP_001394771.1:p.His1813Leu
- NP_001394772.1:p.His1813Leu
- NP_001394773.1:p.His1813Leu
- NP_001394774.1:p.His1813Leu
- NP_001394775.1:p.His1813Leu
- NP_001394776.1:p.His1813Leu
- NP_001394777.1:p.His1813Leu
- NP_001394778.1:p.His1813Leu
- NP_001394779.1:p.His1813Leu
- NP_001394780.1:p.His1813Leu
- NP_001394781.1:p.His1813Leu
- NP_001394782.1:p.His1813Leu
- NP_001394791.1:p.His1795Leu
- NP_001394792.1:p.His1794Leu
- NP_001394803.1:p.His1793Leu
- NP_001394804.1:p.His1793Leu
- NP_001394808.1:p.His1792Leu
- NP_001394810.1:p.His1792Leu
- NP_001394811.1:p.His1792Leu
- NP_001394813.1:p.His1792Leu
- NP_001394814.1:p.His1792Leu
- NP_001394815.1:p.His1792Leu
- NP_001394816.1:p.His1792Leu
- NP_001394818.1:p.His1792Leu
- NP_001394823.1:p.His1791Leu
- NP_001394824.1:p.His1791Leu
- NP_001394825.1:p.His1791Leu
- NP_001394826.1:p.His1791Leu
- NP_001394827.1:p.His1791Leu
- NP_001394828.1:p.His1791Leu
- NP_001394829.1:p.His1791Leu
- NP_001394831.1:p.His1791Leu
- NP_001394833.1:p.His1791Leu
- NP_001394835.1:p.His1791Leu
- NP_001394836.1:p.His1791Leu
- NP_001394837.1:p.His1791Leu
- NP_001394838.1:p.His1791Leu
- NP_001394839.1:p.His1791Leu
- NP_001394844.1:p.His1790Leu
- NP_001394845.1:p.His1790Leu
- NP_001394846.1:p.His1790Leu
- NP_001394847.1:p.His1790Leu
- NP_001394848.1:p.His1778Leu
- NP_001394849.1:p.His1774Leu
- NP_001394850.1:p.His1774Leu
- NP_001394851.1:p.His1774Leu
- NP_001394852.1:p.His1774Leu
- NP_001394853.1:p.His1774Leu
- NP_001394854.1:p.His1774Leu
- NP_001394855.1:p.His1774Leu
- NP_001394856.1:p.His1773Leu
- NP_001394857.1:p.His1773Leu
- NP_001394858.1:p.His1773Leu
- NP_001394859.1:p.His1773Leu
- NP_001394860.1:p.His1773Leu
- NP_001394861.1:p.His1773Leu
- NP_001394862.1:p.His1773Leu
- NP_001394863.1:p.His1772Leu
- NP_001394864.1:p.His1772Leu
- NP_001394865.1:p.His1772Leu
- NP_001394875.1:p.His1751Leu
- NP_001394876.1:p.His1751Leu
- NP_001394877.1:p.His1751Leu
- NP_001394878.1:p.His1751Leu
- NP_001394879.1:p.His1750Leu
- NP_001394880.1:p.His1750Leu
- NP_001394881.1:p.His1750Leu
- NP_001394882.1:p.His1750Leu
- NP_001394883.1:p.His1750Leu
- NP_001394884.1:p.His1750Leu
- NP_001394885.1:p.His1749Leu
- NP_001394886.1:p.His1749Leu
- NP_001394887.1:p.His1749Leu
- NP_001394888.1:p.His1735Leu
- NP_001394889.1:p.His1734Leu
- NP_001394891.1:p.His1734Leu
- NP_001394892.1:p.His1733Leu
- NP_001394893.1:p.His1708Leu
- NP_001394894.1:p.His1693Leu
- NP_001394895.1:p.His1566Leu
- NP_001394896.1:p.His1565Leu
- NP_001394897.1:p.His994Leu
- NP_001394898.1:p.His993Leu
- NP_001394899.1:p.His781Leu
- NP_001394900.1:p.His781Leu
- NP_001394901.1:p.His780Leu
- NP_001394902.1:p.His759Leu
- NP_001394903.1:p.His759Leu
- NP_001394904.1:p.His759Leu
- NP_001394905.1:p.His759Leu
- NP_001394906.1:p.His759Leu
- NP_001394907.1:p.His759Leu
- NP_001394908.1:p.His758Leu
- NP_001394909.1:p.His758Leu
- NP_001394910.1:p.His758Leu
- NP_001394911.1:p.His758Leu
- NP_001394912.1:p.His758Leu
- NP_001394913.1:p.His758Leu
- NP_001394914.1:p.His758Leu
- NP_001394915.1:p.His758Leu
- NP_001394919.1:p.His758Leu
- NP_001394920.1:p.His758Leu
- NP_001394921.1:p.His758Leu
- NP_001394922.1:p.His758Leu
- NP_001395321.1:p.His757Leu
- NP_001395325.1:p.His757Leu
- NP_001395326.1:p.His757Leu
- NP_001395327.1:p.His757Leu
- NP_001395328.1:p.His757Leu
- NP_001395329.1:p.His757Leu
- NP_001395330.1:p.His757Leu
- NP_001395331.1:p.His757Leu
- NP_001395332.1:p.His757Leu
- NP_001395333.1:p.His757Leu
- NP_001395335.1:p.His756Leu
- NP_001395336.1:p.His756Leu
- NP_001395337.1:p.His756Leu
- NP_001395338.1:p.His755Leu
- NP_001395339.1:p.His734Leu
- NP_001395340.1:p.His733Leu
- NP_001395341.1:p.His732Leu
- NP_001395342.1:p.His732Leu
- NP_001395343.1:p.His732Leu
- NP_001395344.1:p.His732Leu
- NP_001395345.1:p.His732Leu
- NP_001395347.1:p.His720Leu
- NP_001395348.1:p.His720Leu
- NP_001395349.1:p.His720Leu
- NP_001395350.1:p.His719Leu
- NP_001395351.1:p.His719Leu
- NP_001395352.1:p.His719Leu
- NP_001395353.1:p.His719Leu
- NP_001395354.1:p.His718Leu
- NP_001395355.1:p.His718Leu
- NP_001395356.1:p.His718Leu
- NP_001395357.1:p.His718Leu
- NP_001395358.1:p.His718Leu
- NP_001395359.1:p.His718Leu
- NP_001395360.1:p.His718Leu
- NP_001395361.1:p.His717Leu
- NP_001395362.1:p.His717Leu
- NP_001395363.1:p.His717Leu
- NP_001395364.1:p.His717Leu
- NP_001395365.1:p.His717Leu
- NP_001395366.1:p.His717Leu
- NP_001395367.1:p.His717Leu
- NP_001395368.1:p.His717Leu
- NP_001395369.1:p.His717Leu
- NP_001395370.1:p.His717Leu
- NP_001395371.1:p.His717Leu
- NP_001395372.1:p.His717Leu
- NP_001395373.1:p.His717Leu
- NP_001395374.1:p.His716Leu
- NP_001395375.1:p.His716Leu
- NP_001395376.1:p.His716Leu
- NP_001395377.1:p.His716Leu
- NP_001395379.1:p.His716Leu
- NP_001395380.1:p.His714Leu
- NP_001395381.1:p.His712Leu
- NP_001395382.1:p.His712Leu
- NP_001395383.1:p.His712Leu
- NP_001395384.1:p.His712Leu
- NP_001395385.1:p.His712Leu
- NP_001395386.1:p.His712Leu
- NP_001395387.1:p.His711Leu
- NP_001395388.1:p.His711Leu
- NP_001395389.1:p.His711Leu
- NP_001395390.1:p.His711Leu
- NP_001395391.1:p.His711Leu
- NP_001395392.1:p.His711Leu
- NP_001395393.1:p.His711Leu
- NP_001395394.1:p.His711Leu
- NP_001395395.1:p.His711Leu
- NP_001395396.1:p.His711Leu
- NP_001395397.1:p.His710Leu
- NP_001395398.1:p.His710Leu
- NP_001395399.1:p.His710Leu
- NP_001395403.1:p.His692Leu
- NP_001395404.1:p.His691Leu
- NP_001395405.1:p.His691Leu
- NP_001395407.1:p.His689Leu
- NP_001395408.1:p.His689Leu
- NP_001395409.1:p.His689Leu
- NP_001395410.1:p.His688Leu
- NP_001395411.1:p.His688Leu
- NP_001395412.1:p.His688Leu
- NP_001395413.1:p.His688Leu
- NP_001395414.1:p.His688Leu
- NP_001395418.1:p.His688Leu
- NP_001395419.1:p.His688Leu
- NP_001395420.1:p.His688Leu
- NP_001395421.1:p.His687Leu
- NP_001395422.1:p.His687Leu
- NP_001395423.1:p.His679Leu
- NP_001395424.1:p.His677Leu
- NP_001395425.1:p.His671Leu
- NP_001395426.1:p.His671Leu
- NP_001395427.1:p.His671Leu
- NP_001395428.1:p.His671Leu
- NP_001395429.1:p.His671Leu
- NP_001395430.1:p.His671Leu
- NP_001395431.1:p.His670Leu
- NP_001395432.1:p.His670Leu
- NP_001395433.1:p.His670Leu
- NP_001395434.1:p.His669Leu
- NP_001395435.1:p.His650Leu
- NP_001395436.1:p.His649Leu
- NP_001395437.1:p.His646Leu
- NP_001395438.1:p.His645Leu
- NP_001395439.1:p.His632Leu
- NP_001395440.1:p.His631Leu
- NP_001395441.1:p.His591Leu
- NP_001395442.1:p.His582Leu
- NP_001395443.1:p.His450Leu
- NP_009225.1:p.His1862Leu
- NP_009225.1:p.His1862Leu
- NP_009228.2:p.His1815Leu
- NP_009229.2:p.His758Leu
- NP_009229.2:p.His758Leu
- NP_009231.2:p.His1883Leu
- NP_009235.2:p.His758Leu
- LRG_292t1:c.5585A>T
- LRG_292:g.172299A>T
- LRG_292p1:p.His1862Leu
- NC_000017.10:g.41197702T>A
- NM_007294.3:c.5585A>T
- NM_007298.3:c.2273A>T
- NR_027676.2:n.5762A>T
- P38398:p.His1862Leu
- U14680.1:n.5704A>T
This HGVS expression did not pass validation- Protein change:
- H1565L
- Links:
- UniProtKB: P38398#VAR_070519; dbSNP: rs80357183
- NCBI 1000 Genomes Browser:
- rs80357183
- Molecular consequence:
- NM_007299.4:c.*99A>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
- NM_001407571.1:c.5372A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407581.1:c.5651A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407582.1:c.5651A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407583.1:c.5648A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407585.1:c.5648A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407587.1:c.5648A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407590.1:c.5645A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407591.1:c.5645A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407593.1:c.5585A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407594.1:c.5585A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407596.1:c.5585A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407597.1:c.5585A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407598.1:c.5585A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407602.1:c.5585A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407603.1:c.5585A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407605.1:c.5585A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407610.1:c.5582A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407611.1:c.5582A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407612.1:c.5582A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407613.1:c.5582A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407614.1:c.5582A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407615.1:c.5582A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407616.1:c.5582A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407617.1:c.5582A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407618.1:c.5582A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407619.1:c.5582A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407620.1:c.5582A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407621.1:c.5582A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407622.1:c.5582A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407623.1:c.5582A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407624.1:c.5582A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407625.1:c.5582A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407626.1:c.5582A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407627.1:c.5579A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407628.1:c.5579A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407629.1:c.5579A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407630.1:c.5579A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407631.1:c.5579A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407632.1:c.5579A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407633.1:c.5579A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407634.1:c.5579A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407635.1:c.5579A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407636.1:c.5579A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407637.1:c.5579A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407638.1:c.5579A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407639.1:c.5579A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407640.1:c.5579A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407641.1:c.5579A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407642.1:c.5579A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407644.1:c.5576A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407645.1:c.5576A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407646.1:c.5573A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407647.1:c.5570A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407648.1:c.5528A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407649.1:c.5525A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407652.1:c.5507A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407653.1:c.5507A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407654.1:c.5507A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407655.1:c.5507A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407656.1:c.5504A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407657.1:c.5504A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407658.1:c.5504A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407659.1:c.5501A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407660.1:c.5501A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407661.1:c.5501A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407662.1:c.5501A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407663.1:c.5501A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407664.1:c.5462A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407665.1:c.5462A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407666.1:c.5462A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407667.1:c.5462A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407668.1:c.5462A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407669.1:c.5462A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407670.1:c.5459A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407671.1:c.5459A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407672.1:c.5459A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407673.1:c.5459A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407674.1:c.5459A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407675.1:c.5459A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407676.1:c.5459A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407677.1:c.5459A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407678.1:c.5459A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407679.1:c.5459A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407680.1:c.5459A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407681.1:c.5456A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407682.1:c.5456A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407683.1:c.5456A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407684.1:c.5456A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407685.1:c.5456A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407686.1:c.5456A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407687.1:c.5456A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407688.1:c.5456A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407689.1:c.5456A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407690.1:c.5453A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407691.1:c.5453A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407692.1:c.5444A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407694.1:c.5444A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407695.1:c.5444A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407696.1:c.5444A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407697.1:c.5444A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407698.1:c.5444A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407724.1:c.5444A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407725.1:c.5444A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407726.1:c.5444A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407727.1:c.5444A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407728.1:c.5444A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407729.1:c.5444A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407730.1:c.5444A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407731.1:c.5444A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407732.1:c.5441A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407733.1:c.5441A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407734.1:c.5441A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407735.1:c.5441A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407736.1:c.5441A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407737.1:c.5441A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407738.1:c.5441A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407739.1:c.5441A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407740.1:c.5441A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407741.1:c.5441A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407742.1:c.5441A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407743.1:c.5441A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407744.1:c.5441A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407745.1:c.5441A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407746.1:c.5441A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407747.1:c.5441A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407748.1:c.5441A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407749.1:c.5441A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407750.1:c.5441A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407751.1:c.5441A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407752.1:c.5441A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407838.1:c.5438A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407839.1:c.5438A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407841.1:c.5438A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407842.1:c.5438A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407843.1:c.5438A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407844.1:c.5438A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407845.1:c.5438A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407846.1:c.5438A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407847.1:c.5438A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407848.1:c.5438A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407849.1:c.5438A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407850.1:c.5438A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407851.1:c.5438A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407852.1:c.5438A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407853.1:c.5438A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407862.1:c.5384A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407863.1:c.5381A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407874.1:c.5378A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407875.1:c.5378A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407879.1:c.5375A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407881.1:c.5375A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407882.1:c.5375A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407884.1:c.5375A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407885.1:c.5375A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407886.1:c.5375A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407887.1:c.5375A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407889.1:c.5375A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407894.1:c.5372A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407895.1:c.5372A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407896.1:c.5372A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407897.1:c.5372A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407898.1:c.5372A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407899.1:c.5372A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407900.1:c.5372A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407902.1:c.5372A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407904.1:c.5372A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407906.1:c.5372A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407907.1:c.5372A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407908.1:c.5372A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407909.1:c.5372A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407910.1:c.5372A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407915.1:c.5369A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407916.1:c.5369A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407917.1:c.5369A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407918.1:c.5369A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407919.1:c.5333A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407920.1:c.5321A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407921.1:c.5321A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407922.1:c.5321A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407923.1:c.5321A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407924.1:c.5321A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407925.1:c.5321A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407926.1:c.5321A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407927.1:c.5318A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407928.1:c.5318A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407929.1:c.5318A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407930.1:c.5318A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407931.1:c.5318A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407932.1:c.5318A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407933.1:c.5318A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407934.1:c.5315A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407935.1:c.5315A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407936.1:c.5315A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407946.1:c.5252A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407947.1:c.5252A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407948.1:c.5252A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407949.1:c.5252A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407950.1:c.5249A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407951.1:c.5249A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407952.1:c.5249A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407953.1:c.5249A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407954.1:c.5249A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407955.1:c.5249A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407956.1:c.5246A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407957.1:c.5246A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407958.1:c.5246A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407959.1:c.5204A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407960.1:c.5201A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407962.1:c.5201A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407963.1:c.5198A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407964.1:c.5123A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407965.1:c.5078A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407966.1:c.4697A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407967.1:c.4694A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407968.1:c.2981A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407969.1:c.2978A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407970.1:c.2342A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407971.1:c.2342A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407972.1:c.2339A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407973.1:c.2276A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407974.1:c.2276A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407975.1:c.2276A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407976.1:c.2276A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407977.1:c.2276A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407978.1:c.2276A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407979.1:c.2273A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407980.1:c.2273A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407981.1:c.2273A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407982.1:c.2273A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407983.1:c.2273A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407984.1:c.2273A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407985.1:c.2273A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407986.1:c.2273A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407990.1:c.2273A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407991.1:c.2273A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407992.1:c.2273A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407993.1:c.2273A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408392.1:c.2270A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408396.1:c.2270A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408397.1:c.2270A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408398.1:c.2270A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408399.1:c.2270A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408400.1:c.2270A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408401.1:c.2270A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408402.1:c.2270A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408403.1:c.2270A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408404.1:c.2270A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408406.1:c.2267A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408407.1:c.2267A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408408.1:c.2267A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408409.1:c.2264A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408410.1:c.2201A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408411.1:c.2198A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408412.1:c.2195A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408413.1:c.2195A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408414.1:c.2195A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408415.1:c.2195A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408416.1:c.2195A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408418.1:c.2159A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408419.1:c.2159A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408420.1:c.2159A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408421.1:c.2156A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408422.1:c.2156A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408423.1:c.2156A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408424.1:c.2156A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408425.1:c.2153A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408426.1:c.2153A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408427.1:c.2153A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408428.1:c.2153A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408429.1:c.2153A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408430.1:c.2153A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408431.1:c.2153A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408432.1:c.2150A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408433.1:c.2150A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408434.1:c.2150A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408435.1:c.2150A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408436.1:c.2150A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408437.1:c.2150A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408438.1:c.2150A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408439.1:c.2150A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408440.1:c.2150A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408441.1:c.2150A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408442.1:c.2150A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408443.1:c.2150A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408444.1:c.2150A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408445.1:c.2147A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408446.1:c.2147A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408447.1:c.2147A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408448.1:c.2147A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408450.1:c.2147A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408451.1:c.2141A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408452.1:c.2135A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408453.1:c.2135A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408454.1:c.2135A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408455.1:c.2135A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408456.1:c.2135A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408457.1:c.2135A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408458.1:c.2132A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408459.1:c.2132A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408460.1:c.2132A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408461.1:c.2132A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408462.1:c.2132A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408463.1:c.2132A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408464.1:c.2132A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408465.1:c.2132A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408466.1:c.2132A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408467.1:c.2132A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408468.1:c.2129A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408469.1:c.2129A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408470.1:c.2129A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408474.1:c.2075A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408475.1:c.2072A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408476.1:c.2072A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408478.1:c.2066A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408479.1:c.2066A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408480.1:c.2066A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408481.1:c.2063A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408482.1:c.2063A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408483.1:c.2063A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408484.1:c.2063A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408485.1:c.2063A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408489.1:c.2063A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408490.1:c.2063A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408491.1:c.2063A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408492.1:c.2060A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408493.1:c.2060A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408494.1:c.2036A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408495.1:c.2030A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408496.1:c.2012A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408497.1:c.2012A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408498.1:c.2012A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408499.1:c.2012A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408500.1:c.2012A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408501.1:c.2012A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408502.1:c.2009A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408503.1:c.2009A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408504.1:c.2009A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408505.1:c.2006A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408506.1:c.1949A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408507.1:c.1946A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408508.1:c.1937A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408509.1:c.1934A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408510.1:c.1895A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408511.1:c.1892A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408512.1:c.1772A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408513.1:c.1745A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408514.1:c.1349A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_007294.4:c.5585A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_007297.4:c.5444A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_007298.4:c.2273A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_007300.4:c.5648A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_007304.2:c.2273A>T - missense variant - [Sequence Ontology: SO:0001583]
- NR_027676.2:n.5762A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Condition(s)
- Name:
- Malignant tumor of breast
- Synonyms:
- Malignant breast neoplasm; Cancer breast
- Identifiers:
- MONDO: MONDO:0007254; MedGen: C0006142
-
Homo sapiens hydroxysteroid 11-beta dehydrogenase 1 (HSD11B1), transcript varian...
Homo sapiens hydroxysteroid 11-beta dehydrogenase 1 (HSD11B1), transcript variant 3, mRNAgi|1890263959|ref|NM_001206741.2|Nucleotide
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See more...Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV001552271 | Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR)
| no assertion criteria provided | Uncertain significance | unknown | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | unknown | yes | not provided | not provided | not provided | not provided | not provided | clinical testing |
Details of each submission
From Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV001552271.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
Description
The BRCA1 p.His1862Leu variant was identified in the literature in a study that showed the variant was able to support growth of Brca1–null murine cells in a functional complementation assay (Bouwman 2013). The variant was also identified in dbSNP (ID: rs80357183) as "With Uncertain significance allele", ClinVar (classified as uncertain significance by Invitae and BIC), MutDB, LOVD 3.0 (13x), and BIC Database (1x with unknown significance). The variant was not identified in the Cosmic, COGR, UMD-LSDB, ARUP Laboratories, or Zhejiang University databases. The variant was identified in control databases in 1 of 245632 chromosomes at a frequency of 0.000004 (Genome Aggregation Database Feb 27, 2017). The variant was observed in the European population in 1 of 111370 chromosomes (freq: 0.000009), while the variant was not observed in the African, Other, Latino, Ashkenazi Jewish, East Asian, Finnish, or South Asian populations. The p.His1862 residue is not conserved in mammals and four out of five computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM, MutationTaster) do not suggest a high likelihood of impact to the protein; however, this information is not predictive enough to rule out pathogenicity. The variant occurs outside of the splicing consensus sequence and 1 of 4 in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) predict a greater than 10% difference in splicing; this is not very predictive of pathogenicity. In summary, based on the above information, the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance.
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | unknown | yes | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
Last Updated: Nov 3, 2024