U.S. flag

An official website of the United States government

NM_007294.4(BRCA1):c.5585A>T (p.His1862Leu) AND Hereditary cancer-predisposing syndrome

Germline classification:
Likely benign (2 submissions)
Last evaluated:
Nov 16, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000774923.16

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
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:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000908971Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely benign
(Nov 16, 2023) 		germlineclinical testing

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

SCV002654144Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Sep 24, 2020) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

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

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

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

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

A high-throughput functional complementation assay for classification of BRCA1 missense variants.

Bouwman P, van der Gulden H, van der Heijden I, Drost R, Klijn CN, Prasetyanti P, Pieterse M, Wientjens E, Seibler J, Hogervorst FB, Jonkers J.

Cancer Discov. 2013 Oct;3(10):1142-55. doi: 10.1158/2159-8290.CD-13-0094. Epub 2013 Jul 18.

PubMed [citation]
PMID:
23867111
See all PubMed Citations (4)

Details of each submission

From Color Diagnostics, LLC DBA Color Health, SCV000908971.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Ambry Genetics, SCV002654144.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Sep 1, 2024