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NM_007294.4(BRCA1):c.5531T>G (p.Leu1844Arg) AND Hereditary breast ovarian cancer syndrome

Germline classification:
Benign/Likely benign (2 submissions)
Last evaluated:
Jan 28, 2024
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:
RCV000709463.19

Allele description [Variation Report for NM_007294.4(BRCA1):c.5531T>G (p.Leu1844Arg)]

NM_007294.4(BRCA1):c.5531T>G (p.Leu1844Arg)

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.5531T>G (p.Leu1844Arg)
Other names:
p.L1844R:CTC>CGC
HGVS:
  • NC_000017.11:g.43045739A>C
  • NG_005905.2:g.172245T>G
  • NM_001407571.1:c.5318T>G
  • NM_001407581.1:c.5597T>G
  • NM_001407582.1:c.5597T>G
  • NM_001407583.1:c.5594T>G
  • NM_001407585.1:c.5594T>G
  • NM_001407587.1:c.5594T>G
  • NM_001407590.1:c.5591T>G
  • NM_001407591.1:c.5591T>G
  • NM_001407593.1:c.5531T>G
  • NM_001407594.1:c.5531T>G
  • NM_001407596.1:c.5531T>G
  • NM_001407597.1:c.5531T>G
  • NM_001407598.1:c.5531T>G
  • NM_001407602.1:c.5531T>G
  • NM_001407603.1:c.5531T>G
  • NM_001407605.1:c.5531T>G
  • NM_001407610.1:c.5528T>G
  • NM_001407611.1:c.5528T>G
  • NM_001407612.1:c.5528T>G
  • NM_001407613.1:c.5528T>G
  • NM_001407614.1:c.5528T>G
  • NM_001407615.1:c.5528T>G
  • NM_001407616.1:c.5528T>G
  • NM_001407617.1:c.5528T>G
  • NM_001407618.1:c.5528T>G
  • NM_001407619.1:c.5528T>G
  • NM_001407620.1:c.5528T>G
  • NM_001407621.1:c.5528T>G
  • NM_001407622.1:c.5528T>G
  • NM_001407623.1:c.5528T>G
  • NM_001407624.1:c.5528T>G
  • NM_001407625.1:c.5528T>G
  • NM_001407626.1:c.5528T>G
  • NM_001407627.1:c.5525T>G
  • NM_001407628.1:c.5525T>G
  • NM_001407629.1:c.5525T>G
  • NM_001407630.1:c.5525T>G
  • NM_001407631.1:c.5525T>G
  • NM_001407632.1:c.5525T>G
  • NM_001407633.1:c.5525T>G
  • NM_001407634.1:c.5525T>G
  • NM_001407635.1:c.5525T>G
  • NM_001407636.1:c.5525T>G
  • NM_001407637.1:c.5525T>G
  • NM_001407638.1:c.5525T>G
  • NM_001407639.1:c.5525T>G
  • NM_001407640.1:c.5525T>G
  • NM_001407641.1:c.5525T>G
  • NM_001407642.1:c.5525T>G
  • NM_001407644.1:c.5522T>G
  • NM_001407645.1:c.5522T>G
  • NM_001407646.1:c.5519T>G
  • NM_001407647.1:c.5516T>G
  • NM_001407648.1:c.5474T>G
  • NM_001407649.1:c.5471T>G
  • NM_001407652.1:c.5453T>G
  • NM_001407653.1:c.5453T>G
  • NM_001407654.1:c.5453T>G
  • NM_001407655.1:c.5453T>G
  • NM_001407656.1:c.5450T>G
  • NM_001407657.1:c.5450T>G
  • NM_001407658.1:c.5450T>G
  • NM_001407659.1:c.5447T>G
  • NM_001407660.1:c.5447T>G
  • NM_001407661.1:c.5447T>G
  • NM_001407662.1:c.5447T>G
  • NM_001407663.1:c.5447T>G
  • NM_001407664.1:c.5408T>G
  • NM_001407665.1:c.5408T>G
  • NM_001407666.1:c.5408T>G
  • NM_001407667.1:c.5408T>G
  • NM_001407668.1:c.5408T>G
  • NM_001407669.1:c.5408T>G
  • NM_001407670.1:c.5405T>G
  • NM_001407671.1:c.5405T>G
  • NM_001407672.1:c.5405T>G
  • NM_001407673.1:c.5405T>G
  • NM_001407674.1:c.5405T>G
  • NM_001407675.1:c.5405T>G
  • NM_001407676.1:c.5405T>G
  • NM_001407677.1:c.5405T>G
  • NM_001407678.1:c.5405T>G
  • NM_001407679.1:c.5405T>G
  • NM_001407680.1:c.5405T>G
  • NM_001407681.1:c.5402T>G
  • NM_001407682.1:c.5402T>G
  • NM_001407683.1:c.5402T>G
  • NM_001407684.1:c.5402T>G
  • NM_001407685.1:c.5402T>G
  • NM_001407686.1:c.5402T>G
  • NM_001407687.1:c.5402T>G
  • NM_001407688.1:c.5402T>G
  • NM_001407689.1:c.5402T>G
  • NM_001407690.1:c.5399T>G
  • NM_001407691.1:c.5399T>G
  • NM_001407692.1:c.5390T>G
  • NM_001407694.1:c.5390T>G
  • NM_001407695.1:c.5390T>G
  • NM_001407696.1:c.5390T>G
  • NM_001407697.1:c.5390T>G
  • NM_001407698.1:c.5390T>G
  • NM_001407724.1:c.5390T>G
  • NM_001407725.1:c.5390T>G
  • NM_001407726.1:c.5390T>G
  • NM_001407727.1:c.5390T>G
  • NM_001407728.1:c.5390T>G
  • NM_001407729.1:c.5390T>G
  • NM_001407730.1:c.5390T>G
  • NM_001407731.1:c.5390T>G
  • NM_001407732.1:c.5387T>G
  • NM_001407733.1:c.5387T>G
  • NM_001407734.1:c.5387T>G
  • NM_001407735.1:c.5387T>G
  • NM_001407736.1:c.5387T>G
  • NM_001407737.1:c.5387T>G
  • NM_001407738.1:c.5387T>G
  • NM_001407739.1:c.5387T>G
  • NM_001407740.1:c.5387T>G
  • NM_001407741.1:c.5387T>G
  • NM_001407742.1:c.5387T>G
  • NM_001407743.1:c.5387T>G
  • NM_001407744.1:c.5387T>G
  • NM_001407745.1:c.5387T>G
  • NM_001407746.1:c.5387T>G
  • NM_001407747.1:c.5387T>G
  • NM_001407748.1:c.5387T>G
  • NM_001407749.1:c.5387T>G
  • NM_001407750.1:c.5387T>G
  • NM_001407751.1:c.5387T>G
  • NM_001407752.1:c.5387T>G
  • NM_001407838.1:c.5384T>G
  • NM_001407839.1:c.5384T>G
  • NM_001407841.1:c.5384T>G
  • NM_001407842.1:c.5384T>G
  • NM_001407843.1:c.5384T>G
  • NM_001407844.1:c.5384T>G
  • NM_001407845.1:c.5384T>G
  • NM_001407846.1:c.5384T>G
  • NM_001407847.1:c.5384T>G
  • NM_001407848.1:c.5384T>G
  • NM_001407849.1:c.5384T>G
  • NM_001407850.1:c.5384T>G
  • NM_001407851.1:c.5384T>G
  • NM_001407852.1:c.5384T>G
  • NM_001407853.1:c.5384T>G
  • NM_001407854.1:c.*45T>G
  • NM_001407858.1:c.*45T>G
  • NM_001407859.1:c.*45T>G
  • NM_001407860.1:c.*45T>G
  • NM_001407861.1:c.*45T>G
  • NM_001407862.1:c.5330T>G
  • NM_001407863.1:c.5327T>G
  • NM_001407874.1:c.5324T>G
  • NM_001407875.1:c.5324T>G
  • NM_001407879.1:c.5321T>G
  • NM_001407881.1:c.5321T>G
  • NM_001407882.1:c.5321T>G
  • NM_001407884.1:c.5321T>G
  • NM_001407885.1:c.5321T>G
  • NM_001407886.1:c.5321T>G
  • NM_001407887.1:c.5321T>G
  • NM_001407889.1:c.5321T>G
  • NM_001407894.1:c.5318T>G
  • NM_001407895.1:c.5318T>G
  • NM_001407896.1:c.5318T>G
  • NM_001407897.1:c.5318T>G
  • NM_001407898.1:c.5318T>G
  • NM_001407899.1:c.5318T>G
  • NM_001407900.1:c.5318T>G
  • NM_001407902.1:c.5318T>G
  • NM_001407904.1:c.5318T>G
  • NM_001407906.1:c.5318T>G
  • NM_001407907.1:c.5318T>G
  • NM_001407908.1:c.5318T>G
  • NM_001407909.1:c.5318T>G
  • NM_001407910.1:c.5318T>G
  • NM_001407915.1:c.5315T>G
  • NM_001407916.1:c.5315T>G
  • NM_001407917.1:c.5315T>G
  • NM_001407918.1:c.5315T>G
  • NM_001407919.1:c.5279T>G
  • NM_001407920.1:c.5267T>G
  • NM_001407921.1:c.5267T>G
  • NM_001407922.1:c.5267T>G
  • NM_001407923.1:c.5267T>G
  • NM_001407924.1:c.5267T>G
  • NM_001407925.1:c.5267T>G
  • NM_001407926.1:c.5267T>G
  • NM_001407927.1:c.5264T>G
  • NM_001407928.1:c.5264T>G
  • NM_001407929.1:c.5264T>G
  • NM_001407930.1:c.5264T>G
  • NM_001407931.1:c.5264T>G
  • NM_001407932.1:c.5264T>G
  • NM_001407933.1:c.5264T>G
  • NM_001407934.1:c.5261T>G
  • NM_001407935.1:c.5261T>G
  • NM_001407936.1:c.5261T>G
  • NM_001407937.1:c.*45T>G
  • NM_001407938.1:c.*45T>G
  • NM_001407939.1:c.*45T>G
  • NM_001407940.1:c.*45T>G
  • NM_001407941.1:c.*45T>G
  • NM_001407942.1:c.*45T>G
  • NM_001407943.1:c.*45T>G
  • NM_001407944.1:c.*45T>G
  • NM_001407945.1:c.*45T>G
  • NM_001407946.1:c.5198T>G
  • NM_001407947.1:c.5198T>G
  • NM_001407948.1:c.5198T>G
  • NM_001407949.1:c.5198T>G
  • NM_001407950.1:c.5195T>G
  • NM_001407951.1:c.5195T>G
  • NM_001407952.1:c.5195T>G
  • NM_001407953.1:c.5195T>G
  • NM_001407954.1:c.5195T>G
  • NM_001407955.1:c.5195T>G
  • NM_001407956.1:c.5192T>G
  • NM_001407957.1:c.5192T>G
  • NM_001407958.1:c.5192T>G
  • NM_001407959.1:c.5150T>G
  • NM_001407960.1:c.5147T>G
  • NM_001407962.1:c.5147T>G
  • NM_001407963.1:c.5144T>G
  • NM_001407964.1:c.5069T>G
  • NM_001407965.1:c.5024T>G
  • NM_001407966.1:c.4643T>G
  • NM_001407967.1:c.4640T>G
  • NM_001407968.1:c.2927T>G
  • NM_001407969.1:c.2924T>G
  • NM_001407970.1:c.2288T>G
  • NM_001407971.1:c.2288T>G
  • NM_001407972.1:c.2285T>G
  • NM_001407973.1:c.2222T>G
  • NM_001407974.1:c.2222T>G
  • NM_001407975.1:c.2222T>G
  • NM_001407976.1:c.2222T>G
  • NM_001407977.1:c.2222T>G
  • NM_001407978.1:c.2222T>G
  • NM_001407979.1:c.2219T>G
  • NM_001407980.1:c.2219T>G
  • NM_001407981.1:c.2219T>G
  • NM_001407982.1:c.2219T>G
  • NM_001407983.1:c.2219T>G
  • NM_001407984.1:c.2219T>G
  • NM_001407985.1:c.2219T>G
  • NM_001407986.1:c.2219T>G
  • NM_001407990.1:c.2219T>G
  • NM_001407991.1:c.2219T>G
  • NM_001407992.1:c.2219T>G
  • NM_001407993.1:c.2219T>G
  • NM_001408392.1:c.2216T>G
  • NM_001408396.1:c.2216T>G
  • NM_001408397.1:c.2216T>G
  • NM_001408398.1:c.2216T>G
  • NM_001408399.1:c.2216T>G
  • NM_001408400.1:c.2216T>G
  • NM_001408401.1:c.2216T>G
  • NM_001408402.1:c.2216T>G
  • NM_001408403.1:c.2216T>G
  • NM_001408404.1:c.2216T>G
  • NM_001408406.1:c.2213T>G
  • NM_001408407.1:c.2213T>G
  • NM_001408408.1:c.2213T>G
  • NM_001408409.1:c.2210T>G
  • NM_001408410.1:c.2147T>G
  • NM_001408411.1:c.2144T>G
  • NM_001408412.1:c.2141T>G
  • NM_001408413.1:c.2141T>G
  • NM_001408414.1:c.2141T>G
  • NM_001408415.1:c.2141T>G
  • NM_001408416.1:c.2141T>G
  • NM_001408418.1:c.2105T>G
  • NM_001408419.1:c.2105T>G
  • NM_001408420.1:c.2105T>G
  • NM_001408421.1:c.2102T>G
  • NM_001408422.1:c.2102T>G
  • NM_001408423.1:c.2102T>G
  • NM_001408424.1:c.2102T>G
  • NM_001408425.1:c.2099T>G
  • NM_001408426.1:c.2099T>G
  • NM_001408427.1:c.2099T>G
  • NM_001408428.1:c.2099T>G
  • NM_001408429.1:c.2099T>G
  • NM_001408430.1:c.2099T>G
  • NM_001408431.1:c.2099T>G
  • NM_001408432.1:c.2096T>G
  • NM_001408433.1:c.2096T>G
  • NM_001408434.1:c.2096T>G
  • NM_001408435.1:c.2096T>G
  • NM_001408436.1:c.2096T>G
  • NM_001408437.1:c.2096T>G
  • NM_001408438.1:c.2096T>G
  • NM_001408439.1:c.2096T>G
  • NM_001408440.1:c.2096T>G
  • NM_001408441.1:c.2096T>G
  • NM_001408442.1:c.2096T>G
  • NM_001408443.1:c.2096T>G
  • NM_001408444.1:c.2096T>G
  • NM_001408445.1:c.2093T>G
  • NM_001408446.1:c.2093T>G
  • NM_001408447.1:c.2093T>G
  • NM_001408448.1:c.2093T>G
  • NM_001408450.1:c.2093T>G
  • NM_001408451.1:c.2087T>G
  • NM_001408452.1:c.2081T>G
  • NM_001408453.1:c.2081T>G
  • NM_001408454.1:c.2081T>G
  • NM_001408455.1:c.2081T>G
  • NM_001408456.1:c.2081T>G
  • NM_001408457.1:c.2081T>G
  • NM_001408458.1:c.2078T>G
  • NM_001408459.1:c.2078T>G
  • NM_001408460.1:c.2078T>G
  • NM_001408461.1:c.2078T>G
  • NM_001408462.1:c.2078T>G
  • NM_001408463.1:c.2078T>G
  • NM_001408464.1:c.2078T>G
  • NM_001408465.1:c.2078T>G
  • NM_001408466.1:c.2078T>G
  • NM_001408467.1:c.2078T>G
  • NM_001408468.1:c.2075T>G
  • NM_001408469.1:c.2075T>G
  • NM_001408470.1:c.2075T>G
  • NM_001408472.1:c.*45T>G
  • NM_001408473.1:c.*45T>G
  • NM_001408474.1:c.2021T>G
  • NM_001408475.1:c.2018T>G
  • NM_001408476.1:c.2018T>G
  • NM_001408478.1:c.2012T>G
  • NM_001408479.1:c.2012T>G
  • NM_001408480.1:c.2012T>G
  • NM_001408481.1:c.2009T>G
  • NM_001408482.1:c.2009T>G
  • NM_001408483.1:c.2009T>G
  • NM_001408484.1:c.2009T>G
  • NM_001408485.1:c.2009T>G
  • NM_001408489.1:c.2009T>G
  • NM_001408490.1:c.2009T>G
  • NM_001408491.1:c.2009T>G
  • NM_001408492.1:c.2006T>G
  • NM_001408493.1:c.2006T>G
  • NM_001408494.1:c.1982T>G
  • NM_001408495.1:c.1976T>G
  • NM_001408496.1:c.1958T>G
  • NM_001408497.1:c.1958T>G
  • NM_001408498.1:c.1958T>G
  • NM_001408499.1:c.1958T>G
  • NM_001408500.1:c.1958T>G
  • NM_001408501.1:c.1958T>G
  • NM_001408502.1:c.1955T>G
  • NM_001408503.1:c.1955T>G
  • NM_001408504.1:c.1955T>G
  • NM_001408505.1:c.1952T>G
  • NM_001408506.1:c.1895T>G
  • NM_001408507.1:c.1892T>G
  • NM_001408508.1:c.1883T>G
  • NM_001408509.1:c.1880T>G
  • NM_001408510.1:c.1841T>G
  • NM_001408511.1:c.1838T>G
  • NM_001408512.1:c.1718T>G
  • NM_001408513.1:c.1691T>G
  • NM_001408514.1:c.1295T>G
  • NM_007294.4:c.5531T>GMANE SELECT
  • NM_007297.4:c.5390T>G
  • NM_007298.4:c.2219T>G
  • NM_007299.4:c.*45T>G
  • NM_007300.4:c.5594T>G
  • NM_007304.2:c.2219T>G
  • NP_001394500.1:p.Leu1773Arg
  • NP_001394510.1:p.Leu1866Arg
  • NP_001394511.1:p.Leu1866Arg
  • NP_001394512.1:p.Leu1865Arg
  • NP_001394514.1:p.Leu1865Arg
  • NP_001394516.1:p.Leu1865Arg
  • NP_001394519.1:p.Leu1864Arg
  • NP_001394520.1:p.Leu1864Arg
  • NP_001394522.1:p.Leu1844Arg
  • NP_001394523.1:p.Leu1844Arg
  • NP_001394525.1:p.Leu1844Arg
  • NP_001394526.1:p.Leu1844Arg
  • NP_001394527.1:p.Leu1844Arg
  • NP_001394531.1:p.Leu1844Arg
  • NP_001394532.1:p.Leu1844Arg
  • NP_001394534.1:p.Leu1844Arg
  • NP_001394539.1:p.Leu1843Arg
  • NP_001394540.1:p.Leu1843Arg
  • NP_001394541.1:p.Leu1843Arg
  • NP_001394542.1:p.Leu1843Arg
  • NP_001394543.1:p.Leu1843Arg
  • NP_001394544.1:p.Leu1843Arg
  • NP_001394545.1:p.Leu1843Arg
  • NP_001394546.1:p.Leu1843Arg
  • NP_001394547.1:p.Leu1843Arg
  • NP_001394548.1:p.Leu1843Arg
  • NP_001394549.1:p.Leu1843Arg
  • NP_001394550.1:p.Leu1843Arg
  • NP_001394551.1:p.Leu1843Arg
  • NP_001394552.1:p.Leu1843Arg
  • NP_001394553.1:p.Leu1843Arg
  • NP_001394554.1:p.Leu1843Arg
  • NP_001394555.1:p.Leu1843Arg
  • NP_001394556.1:p.Leu1842Arg
  • NP_001394557.1:p.Leu1842Arg
  • NP_001394558.1:p.Leu1842Arg
  • NP_001394559.1:p.Leu1842Arg
  • NP_001394560.1:p.Leu1842Arg
  • NP_001394561.1:p.Leu1842Arg
  • NP_001394562.1:p.Leu1842Arg
  • NP_001394563.1:p.Leu1842Arg
  • NP_001394564.1:p.Leu1842Arg
  • NP_001394565.1:p.Leu1842Arg
  • NP_001394566.1:p.Leu1842Arg
  • NP_001394567.1:p.Leu1842Arg
  • NP_001394568.1:p.Leu1842Arg
  • NP_001394569.1:p.Leu1842Arg
  • NP_001394570.1:p.Leu1842Arg
  • NP_001394571.1:p.Leu1842Arg
  • NP_001394573.1:p.Leu1841Arg
  • NP_001394574.1:p.Leu1841Arg
  • NP_001394575.1:p.Leu1840Arg
  • NP_001394576.1:p.Leu1839Arg
  • NP_001394577.1:p.Leu1825Arg
  • NP_001394578.1:p.Leu1824Arg
  • NP_001394581.1:p.Leu1818Arg
  • NP_001394582.1:p.Leu1818Arg
  • NP_001394583.1:p.Leu1818Arg
  • NP_001394584.1:p.Leu1818Arg
  • NP_001394585.1:p.Leu1817Arg
  • NP_001394586.1:p.Leu1817Arg
  • NP_001394587.1:p.Leu1817Arg
  • NP_001394588.1:p.Leu1816Arg
  • NP_001394589.1:p.Leu1816Arg
  • NP_001394590.1:p.Leu1816Arg
  • NP_001394591.1:p.Leu1816Arg
  • NP_001394592.1:p.Leu1816Arg
  • NP_001394593.1:p.Leu1803Arg
  • NP_001394594.1:p.Leu1803Arg
  • NP_001394595.1:p.Leu1803Arg
  • NP_001394596.1:p.Leu1803Arg
  • NP_001394597.1:p.Leu1803Arg
  • NP_001394598.1:p.Leu1803Arg
  • NP_001394599.1:p.Leu1802Arg
  • NP_001394600.1:p.Leu1802Arg
  • NP_001394601.1:p.Leu1802Arg
  • NP_001394602.1:p.Leu1802Arg
  • NP_001394603.1:p.Leu1802Arg
  • NP_001394604.1:p.Leu1802Arg
  • NP_001394605.1:p.Leu1802Arg
  • NP_001394606.1:p.Leu1802Arg
  • NP_001394607.1:p.Leu1802Arg
  • NP_001394608.1:p.Leu1802Arg
  • NP_001394609.1:p.Leu1802Arg
  • NP_001394610.1:p.Leu1801Arg
  • NP_001394611.1:p.Leu1801Arg
  • NP_001394612.1:p.Leu1801Arg
  • NP_001394613.1:p.Leu1801Arg
  • NP_001394614.1:p.Leu1801Arg
  • NP_001394615.1:p.Leu1801Arg
  • NP_001394616.1:p.Leu1801Arg
  • NP_001394617.1:p.Leu1801Arg
  • NP_001394618.1:p.Leu1801Arg
  • NP_001394619.1:p.Leu1800Arg
  • NP_001394620.1:p.Leu1800Arg
  • NP_001394621.1:p.Leu1797Arg
  • NP_001394623.1:p.Leu1797Arg
  • NP_001394624.1:p.Leu1797Arg
  • NP_001394625.1:p.Leu1797Arg
  • NP_001394626.1:p.Leu1797Arg
  • NP_001394627.1:p.Leu1797Arg
  • NP_001394653.1:p.Leu1797Arg
  • NP_001394654.1:p.Leu1797Arg
  • NP_001394655.1:p.Leu1797Arg
  • NP_001394656.1:p.Leu1797Arg
  • NP_001394657.1:p.Leu1797Arg
  • NP_001394658.1:p.Leu1797Arg
  • NP_001394659.1:p.Leu1797Arg
  • NP_001394660.1:p.Leu1797Arg
  • NP_001394661.1:p.Leu1796Arg
  • NP_001394662.1:p.Leu1796Arg
  • NP_001394663.1:p.Leu1796Arg
  • NP_001394664.1:p.Leu1796Arg
  • NP_001394665.1:p.Leu1796Arg
  • NP_001394666.1:p.Leu1796Arg
  • NP_001394667.1:p.Leu1796Arg
  • NP_001394668.1:p.Leu1796Arg
  • NP_001394669.1:p.Leu1796Arg
  • NP_001394670.1:p.Leu1796Arg
  • NP_001394671.1:p.Leu1796Arg
  • NP_001394672.1:p.Leu1796Arg
  • NP_001394673.1:p.Leu1796Arg
  • NP_001394674.1:p.Leu1796Arg
  • NP_001394675.1:p.Leu1796Arg
  • NP_001394676.1:p.Leu1796Arg
  • NP_001394677.1:p.Leu1796Arg
  • NP_001394678.1:p.Leu1796Arg
  • NP_001394679.1:p.Leu1796Arg
  • NP_001394680.1:p.Leu1796Arg
  • NP_001394681.1:p.Leu1796Arg
  • NP_001394767.1:p.Leu1795Arg
  • NP_001394768.1:p.Leu1795Arg
  • NP_001394770.1:p.Leu1795Arg
  • NP_001394771.1:p.Leu1795Arg
  • NP_001394772.1:p.Leu1795Arg
  • NP_001394773.1:p.Leu1795Arg
  • NP_001394774.1:p.Leu1795Arg
  • NP_001394775.1:p.Leu1795Arg
  • NP_001394776.1:p.Leu1795Arg
  • NP_001394777.1:p.Leu1795Arg
  • NP_001394778.1:p.Leu1795Arg
  • NP_001394779.1:p.Leu1795Arg
  • NP_001394780.1:p.Leu1795Arg
  • NP_001394781.1:p.Leu1795Arg
  • NP_001394782.1:p.Leu1795Arg
  • NP_001394791.1:p.Leu1777Arg
  • NP_001394792.1:p.Leu1776Arg
  • NP_001394803.1:p.Leu1775Arg
  • NP_001394804.1:p.Leu1775Arg
  • NP_001394808.1:p.Leu1774Arg
  • NP_001394810.1:p.Leu1774Arg
  • NP_001394811.1:p.Leu1774Arg
  • NP_001394813.1:p.Leu1774Arg
  • NP_001394814.1:p.Leu1774Arg
  • NP_001394815.1:p.Leu1774Arg
  • NP_001394816.1:p.Leu1774Arg
  • NP_001394818.1:p.Leu1774Arg
  • NP_001394823.1:p.Leu1773Arg
  • NP_001394824.1:p.Leu1773Arg
  • NP_001394825.1:p.Leu1773Arg
  • NP_001394826.1:p.Leu1773Arg
  • NP_001394827.1:p.Leu1773Arg
  • NP_001394828.1:p.Leu1773Arg
  • NP_001394829.1:p.Leu1773Arg
  • NP_001394831.1:p.Leu1773Arg
  • NP_001394833.1:p.Leu1773Arg
  • NP_001394835.1:p.Leu1773Arg
  • NP_001394836.1:p.Leu1773Arg
  • NP_001394837.1:p.Leu1773Arg
  • NP_001394838.1:p.Leu1773Arg
  • NP_001394839.1:p.Leu1773Arg
  • NP_001394844.1:p.Leu1772Arg
  • NP_001394845.1:p.Leu1772Arg
  • NP_001394846.1:p.Leu1772Arg
  • NP_001394847.1:p.Leu1772Arg
  • NP_001394848.1:p.Leu1760Arg
  • NP_001394849.1:p.Leu1756Arg
  • NP_001394850.1:p.Leu1756Arg
  • NP_001394851.1:p.Leu1756Arg
  • NP_001394852.1:p.Leu1756Arg
  • NP_001394853.1:p.Leu1756Arg
  • NP_001394854.1:p.Leu1756Arg
  • NP_001394855.1:p.Leu1756Arg
  • NP_001394856.1:p.Leu1755Arg
  • NP_001394857.1:p.Leu1755Arg
  • NP_001394858.1:p.Leu1755Arg
  • NP_001394859.1:p.Leu1755Arg
  • NP_001394860.1:p.Leu1755Arg
  • NP_001394861.1:p.Leu1755Arg
  • NP_001394862.1:p.Leu1755Arg
  • NP_001394863.1:p.Leu1754Arg
  • NP_001394864.1:p.Leu1754Arg
  • NP_001394865.1:p.Leu1754Arg
  • NP_001394875.1:p.Leu1733Arg
  • NP_001394876.1:p.Leu1733Arg
  • NP_001394877.1:p.Leu1733Arg
  • NP_001394878.1:p.Leu1733Arg
  • NP_001394879.1:p.Leu1732Arg
  • NP_001394880.1:p.Leu1732Arg
  • NP_001394881.1:p.Leu1732Arg
  • NP_001394882.1:p.Leu1732Arg
  • NP_001394883.1:p.Leu1732Arg
  • NP_001394884.1:p.Leu1732Arg
  • NP_001394885.1:p.Leu1731Arg
  • NP_001394886.1:p.Leu1731Arg
  • NP_001394887.1:p.Leu1731Arg
  • NP_001394888.1:p.Leu1717Arg
  • NP_001394889.1:p.Leu1716Arg
  • NP_001394891.1:p.Leu1716Arg
  • NP_001394892.1:p.Leu1715Arg
  • NP_001394893.1:p.Leu1690Arg
  • NP_001394894.1:p.Leu1675Arg
  • NP_001394895.1:p.Leu1548Arg
  • NP_001394896.1:p.Leu1547Arg
  • NP_001394897.1:p.Leu976Arg
  • NP_001394898.1:p.Leu975Arg
  • NP_001394899.1:p.Leu763Arg
  • NP_001394900.1:p.Leu763Arg
  • NP_001394901.1:p.Leu762Arg
  • NP_001394902.1:p.Leu741Arg
  • NP_001394903.1:p.Leu741Arg
  • NP_001394904.1:p.Leu741Arg
  • NP_001394905.1:p.Leu741Arg
  • NP_001394906.1:p.Leu741Arg
  • NP_001394907.1:p.Leu741Arg
  • NP_001394908.1:p.Leu740Arg
  • NP_001394909.1:p.Leu740Arg
  • NP_001394910.1:p.Leu740Arg
  • NP_001394911.1:p.Leu740Arg
  • NP_001394912.1:p.Leu740Arg
  • NP_001394913.1:p.Leu740Arg
  • NP_001394914.1:p.Leu740Arg
  • NP_001394915.1:p.Leu740Arg
  • NP_001394919.1:p.Leu740Arg
  • NP_001394920.1:p.Leu740Arg
  • NP_001394921.1:p.Leu740Arg
  • NP_001394922.1:p.Leu740Arg
  • NP_001395321.1:p.Leu739Arg
  • NP_001395325.1:p.Leu739Arg
  • NP_001395326.1:p.Leu739Arg
  • NP_001395327.1:p.Leu739Arg
  • NP_001395328.1:p.Leu739Arg
  • NP_001395329.1:p.Leu739Arg
  • NP_001395330.1:p.Leu739Arg
  • NP_001395331.1:p.Leu739Arg
  • NP_001395332.1:p.Leu739Arg
  • NP_001395333.1:p.Leu739Arg
  • NP_001395335.1:p.Leu738Arg
  • NP_001395336.1:p.Leu738Arg
  • NP_001395337.1:p.Leu738Arg
  • NP_001395338.1:p.Leu737Arg
  • NP_001395339.1:p.Leu716Arg
  • NP_001395340.1:p.Leu715Arg
  • NP_001395341.1:p.Leu714Arg
  • NP_001395342.1:p.Leu714Arg
  • NP_001395343.1:p.Leu714Arg
  • NP_001395344.1:p.Leu714Arg
  • NP_001395345.1:p.Leu714Arg
  • NP_001395347.1:p.Leu702Arg
  • NP_001395348.1:p.Leu702Arg
  • NP_001395349.1:p.Leu702Arg
  • NP_001395350.1:p.Leu701Arg
  • NP_001395351.1:p.Leu701Arg
  • NP_001395352.1:p.Leu701Arg
  • NP_001395353.1:p.Leu701Arg
  • NP_001395354.1:p.Leu700Arg
  • NP_001395355.1:p.Leu700Arg
  • NP_001395356.1:p.Leu700Arg
  • NP_001395357.1:p.Leu700Arg
  • NP_001395358.1:p.Leu700Arg
  • NP_001395359.1:p.Leu700Arg
  • NP_001395360.1:p.Leu700Arg
  • NP_001395361.1:p.Leu699Arg
  • NP_001395362.1:p.Leu699Arg
  • NP_001395363.1:p.Leu699Arg
  • NP_001395364.1:p.Leu699Arg
  • NP_001395365.1:p.Leu699Arg
  • NP_001395366.1:p.Leu699Arg
  • NP_001395367.1:p.Leu699Arg
  • NP_001395368.1:p.Leu699Arg
  • NP_001395369.1:p.Leu699Arg
  • NP_001395370.1:p.Leu699Arg
  • NP_001395371.1:p.Leu699Arg
  • NP_001395372.1:p.Leu699Arg
  • NP_001395373.1:p.Leu699Arg
  • NP_001395374.1:p.Leu698Arg
  • NP_001395375.1:p.Leu698Arg
  • NP_001395376.1:p.Leu698Arg
  • NP_001395377.1:p.Leu698Arg
  • NP_001395379.1:p.Leu698Arg
  • NP_001395380.1:p.Leu696Arg
  • NP_001395381.1:p.Leu694Arg
  • NP_001395382.1:p.Leu694Arg
  • NP_001395383.1:p.Leu694Arg
  • NP_001395384.1:p.Leu694Arg
  • NP_001395385.1:p.Leu694Arg
  • NP_001395386.1:p.Leu694Arg
  • NP_001395387.1:p.Leu693Arg
  • NP_001395388.1:p.Leu693Arg
  • NP_001395389.1:p.Leu693Arg
  • NP_001395390.1:p.Leu693Arg
  • NP_001395391.1:p.Leu693Arg
  • NP_001395392.1:p.Leu693Arg
  • NP_001395393.1:p.Leu693Arg
  • NP_001395394.1:p.Leu693Arg
  • NP_001395395.1:p.Leu693Arg
  • NP_001395396.1:p.Leu693Arg
  • NP_001395397.1:p.Leu692Arg
  • NP_001395398.1:p.Leu692Arg
  • NP_001395399.1:p.Leu692Arg
  • NP_001395403.1:p.Leu674Arg
  • NP_001395404.1:p.Leu673Arg
  • NP_001395405.1:p.Leu673Arg
  • NP_001395407.1:p.Leu671Arg
  • NP_001395408.1:p.Leu671Arg
  • NP_001395409.1:p.Leu671Arg
  • NP_001395410.1:p.Leu670Arg
  • NP_001395411.1:p.Leu670Arg
  • NP_001395412.1:p.Leu670Arg
  • NP_001395413.1:p.Leu670Arg
  • NP_001395414.1:p.Leu670Arg
  • NP_001395418.1:p.Leu670Arg
  • NP_001395419.1:p.Leu670Arg
  • NP_001395420.1:p.Leu670Arg
  • NP_001395421.1:p.Leu669Arg
  • NP_001395422.1:p.Leu669Arg
  • NP_001395423.1:p.Leu661Arg
  • NP_001395424.1:p.Leu659Arg
  • NP_001395425.1:p.Leu653Arg
  • NP_001395426.1:p.Leu653Arg
  • NP_001395427.1:p.Leu653Arg
  • NP_001395428.1:p.Leu653Arg
  • NP_001395429.1:p.Leu653Arg
  • NP_001395430.1:p.Leu653Arg
  • NP_001395431.1:p.Leu652Arg
  • NP_001395432.1:p.Leu652Arg
  • NP_001395433.1:p.Leu652Arg
  • NP_001395434.1:p.Leu651Arg
  • NP_001395435.1:p.Leu632Arg
  • NP_001395436.1:p.Leu631Arg
  • NP_001395437.1:p.Leu628Arg
  • NP_001395438.1:p.Leu627Arg
  • NP_001395439.1:p.Leu614Arg
  • NP_001395440.1:p.Leu613Arg
  • NP_001395441.1:p.Leu573Arg
  • NP_001395442.1:p.Leu564Arg
  • NP_001395443.1:p.Leu432Arg
  • NP_009225.1:p.Leu1844Arg
  • NP_009225.1:p.Leu1844Arg
  • NP_009228.2:p.Leu1797Arg
  • NP_009229.2:p.Leu740Arg
  • NP_009229.2:p.Leu740Arg
  • NP_009231.2:p.Leu1865Arg
  • NP_009235.2:p.Leu740Arg
  • LRG_292t1:c.5531T>G
  • LRG_292:g.172245T>G
  • LRG_292p1:p.Leu1844Arg
  • NC_000017.10:g.41197756A>C
  • NM_007294.3:c.5531T>G
  • NM_007298.3:c.2219T>G
  • NR_027676.2:n.5708T>G
  • U14680.1:n.5650T>G
  • p.L1844R
Nucleotide change:
5650T>G
Protein change:
L1547R
Links:
dbSNP: rs80357323
NCBI 1000 Genomes Browser:
rs80357323
Molecular consequence:
  • NM_007299.4:c.*45T>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001407571.1:c.5318T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.5597T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.5597T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.5594T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.5594T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.5594T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.5591T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.5591T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.5531T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.5531T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.5531T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.5531T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.5531T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.5531T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.5531T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.5531T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.5528T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.5528T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.5528T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.5528T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.5528T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.5528T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.5528T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.5528T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.5528T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.5528T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.5528T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.5528T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.5528T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.5528T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.5528T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.5528T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.5528T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.5525T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.5525T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.5525T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.5525T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.5525T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.5525T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.5525T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.5525T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.5525T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.5525T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.5525T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.5525T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.5525T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.5525T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.5525T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.5525T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.5522T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.5522T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.5519T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.5516T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.5474T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.5471T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.5453T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.5453T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.5453T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.5453T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.5450T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.5450T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.5450T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.5447T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.5447T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.5447T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.5447T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.5447T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.5408T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.5408T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.5408T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.5408T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.5408T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.5408T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.5405T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.5405T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.5405T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.5405T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.5405T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.5405T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.5405T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.5405T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.5405T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.5405T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.5405T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.5402T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.5402T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.5402T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.5402T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.5402T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.5402T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.5402T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.5402T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.5402T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.5399T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.5399T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.5390T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.5390T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.5390T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.5390T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.5390T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.5390T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.5390T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.5390T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.5390T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.5390T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.5390T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.5390T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.5390T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.5390T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.5387T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.5387T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.5387T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.5387T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.5387T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.5387T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.5387T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.5387T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.5387T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.5387T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.5387T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.5387T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.5387T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.5387T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.5387T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.5387T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.5387T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.5387T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.5387T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.5387T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.5387T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.5384T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.5384T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.5384T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.5384T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.5384T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.5384T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.5384T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.5384T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.5384T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.5384T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.5384T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.5384T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.5384T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.5384T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.5384T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.5330T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.5327T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.5324T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.5324T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.5321T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.5321T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.5321T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.5321T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.5321T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.5321T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.5321T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.5321T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.5318T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.5318T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.5318T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.5318T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.5318T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.5318T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.5318T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.5318T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.5318T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.5318T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.5318T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.5318T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.5318T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.5318T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.5315T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.5315T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.5315T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.5315T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.5279T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.5267T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.5267T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.5267T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.5267T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.5267T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.5267T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.5267T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.5264T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.5264T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.5264T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.5264T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.5264T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.5264T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.5264T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.5261T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.5261T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.5261T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.5198T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.5198T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.5198T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.5198T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.5195T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.5195T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.5195T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.5195T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.5195T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.5195T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.5192T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.5192T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.5192T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.5150T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.5147T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.5147T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.5144T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.5069T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.5024T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.4643T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.4640T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.2927T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.2924T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407970.1:c.2288T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407971.1:c.2288T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407972.1:c.2285T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407973.1:c.2222T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407974.1:c.2222T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407975.1:c.2222T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407976.1:c.2222T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407977.1:c.2222T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407978.1:c.2222T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407979.1:c.2219T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407980.1:c.2219T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407981.1:c.2219T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407982.1:c.2219T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407983.1:c.2219T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407984.1:c.2219T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407985.1:c.2219T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407986.1:c.2219T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407990.1:c.2219T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407991.1:c.2219T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407992.1:c.2219T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407993.1:c.2219T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408392.1:c.2216T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408396.1:c.2216T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408397.1:c.2216T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408398.1:c.2216T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408399.1:c.2216T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408400.1:c.2216T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408401.1:c.2216T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408402.1:c.2216T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408403.1:c.2216T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408404.1:c.2216T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408406.1:c.2213T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408407.1:c.2213T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408408.1:c.2213T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408409.1:c.2210T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408410.1:c.2147T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408411.1:c.2144T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408412.1:c.2141T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408413.1:c.2141T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408414.1:c.2141T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408415.1:c.2141T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408416.1:c.2141T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408418.1:c.2105T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408419.1:c.2105T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408420.1:c.2105T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408421.1:c.2102T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408422.1:c.2102T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408423.1:c.2102T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408424.1:c.2102T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408425.1:c.2099T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408426.1:c.2099T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408427.1:c.2099T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408428.1:c.2099T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408429.1:c.2099T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408430.1:c.2099T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408431.1:c.2099T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408432.1:c.2096T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408433.1:c.2096T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408434.1:c.2096T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408435.1:c.2096T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408436.1:c.2096T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408437.1:c.2096T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408438.1:c.2096T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408439.1:c.2096T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408440.1:c.2096T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408441.1:c.2096T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408442.1:c.2096T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408443.1:c.2096T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408444.1:c.2096T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408445.1:c.2093T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408446.1:c.2093T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408447.1:c.2093T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408448.1:c.2093T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408450.1:c.2093T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408451.1:c.2087T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408452.1:c.2081T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408453.1:c.2081T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408454.1:c.2081T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408455.1:c.2081T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408456.1:c.2081T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408457.1:c.2081T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408458.1:c.2078T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408459.1:c.2078T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408460.1:c.2078T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408461.1:c.2078T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408462.1:c.2078T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408463.1:c.2078T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408464.1:c.2078T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408465.1:c.2078T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408466.1:c.2078T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408467.1:c.2078T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408468.1:c.2075T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408469.1:c.2075T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408470.1:c.2075T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408474.1:c.2021T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408475.1:c.2018T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408476.1:c.2018T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408478.1:c.2012T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408479.1:c.2012T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408480.1:c.2012T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408481.1:c.2009T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408482.1:c.2009T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408483.1:c.2009T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408484.1:c.2009T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408485.1:c.2009T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408489.1:c.2009T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408490.1:c.2009T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408491.1:c.2009T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408492.1:c.2006T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408493.1:c.2006T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408494.1:c.1982T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408495.1:c.1976T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408496.1:c.1958T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408497.1:c.1958T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408498.1:c.1958T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408499.1:c.1958T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408500.1:c.1958T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408501.1:c.1958T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408502.1:c.1955T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408503.1:c.1955T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408504.1:c.1955T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408505.1:c.1952T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408506.1:c.1895T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408507.1:c.1892T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408508.1:c.1883T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408509.1:c.1880T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408510.1:c.1841T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408511.1:c.1838T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408512.1:c.1718T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408513.1:c.1691T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408514.1:c.1295T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.5531T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.5390T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.4:c.2219T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.5594T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007304.2:c.2219T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.5708T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Functional consequence:
functionally_normal [Sequence Ontology: SO:0002219] - Comment(s)

Condition(s)

Name:
Hereditary breast ovarian cancer syndrome
Synonyms:
Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000839207Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2019)		Benign
(Aug 22, 2023) 		germlineclinical testing

Citation Link,

SCV001615582Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Likely benign
(Jan 28, 2024) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

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

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

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

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Mendelics, SCV000839207.3

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

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001615582.4

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

Last Updated: Nov 10, 2024