NM_007294.4(BRCA1):c.5497G>A (p.Val1833Met) AND not provided
- Germline classification:
- Likely pathogenic (3 submissions)
- Last evaluated:
- Oct 23, 2020
- Review status:
- 2 stars out of maximum of 4 starscriteria provided, multiple submitters, no conflicts
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV000255915.5
Allele description [Variation Report for NM_007294.4(BRCA1):c.5497G>A (p.Val1833Met)]
NM_007294.4(BRCA1):c.5497G>A (p.Val1833Met)
- 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.5497G>A (p.Val1833Met)
- HGVS:
- NC_000017.11:g.43045773C>T
- NG_005905.2:g.172211G>A
- NM_001407571.1:c.5284G>A
- NM_001407581.1:c.5563G>A
- NM_001407582.1:c.5563G>A
- NM_001407583.1:c.5560G>A
- NM_001407585.1:c.5560G>A
- NM_001407587.1:c.5560G>A
- NM_001407590.1:c.5557G>A
- NM_001407591.1:c.5557G>A
- NM_001407593.1:c.5497G>A
- NM_001407594.1:c.5497G>A
- NM_001407596.1:c.5497G>A
- NM_001407597.1:c.5497G>A
- NM_001407598.1:c.5497G>A
- NM_001407602.1:c.5497G>A
- NM_001407603.1:c.5497G>A
- NM_001407605.1:c.5497G>A
- NM_001407610.1:c.5494G>A
- NM_001407611.1:c.5494G>A
- NM_001407612.1:c.5494G>A
- NM_001407613.1:c.5494G>A
- NM_001407614.1:c.5494G>A
- NM_001407615.1:c.5494G>A
- NM_001407616.1:c.5494G>A
- NM_001407617.1:c.5494G>A
- NM_001407618.1:c.5494G>A
- NM_001407619.1:c.5494G>A
- NM_001407620.1:c.5494G>A
- NM_001407621.1:c.5494G>A
- NM_001407622.1:c.5494G>A
- NM_001407623.1:c.5494G>A
- NM_001407624.1:c.5494G>A
- NM_001407625.1:c.5494G>A
- NM_001407626.1:c.5494G>A
- NM_001407627.1:c.5491G>A
- NM_001407628.1:c.5491G>A
- NM_001407629.1:c.5491G>A
- NM_001407630.1:c.5491G>A
- NM_001407631.1:c.5491G>A
- NM_001407632.1:c.5491G>A
- NM_001407633.1:c.5491G>A
- NM_001407634.1:c.5491G>A
- NM_001407635.1:c.5491G>A
- NM_001407636.1:c.5491G>A
- NM_001407637.1:c.5491G>A
- NM_001407638.1:c.5491G>A
- NM_001407639.1:c.5491G>A
- NM_001407640.1:c.5491G>A
- NM_001407641.1:c.5491G>A
- NM_001407642.1:c.5491G>A
- NM_001407644.1:c.5488G>A
- NM_001407645.1:c.5488G>A
- NM_001407646.1:c.5485G>A
- NM_001407647.1:c.5482G>A
- NM_001407648.1:c.5440G>A
- NM_001407649.1:c.5437G>A
- NM_001407652.1:c.5419G>A
- NM_001407653.1:c.5419G>A
- NM_001407654.1:c.5419G>A
- NM_001407655.1:c.5419G>A
- NM_001407656.1:c.5416G>A
- NM_001407657.1:c.5416G>A
- NM_001407658.1:c.5416G>A
- NM_001407659.1:c.5413G>A
- NM_001407660.1:c.5413G>A
- NM_001407661.1:c.5413G>A
- NM_001407662.1:c.5413G>A
- NM_001407663.1:c.5413G>A
- NM_001407664.1:c.5374G>A
- NM_001407665.1:c.5374G>A
- NM_001407666.1:c.5374G>A
- NM_001407667.1:c.5374G>A
- NM_001407668.1:c.5374G>A
- NM_001407669.1:c.5374G>A
- NM_001407670.1:c.5371G>A
- NM_001407671.1:c.5371G>A
- NM_001407672.1:c.5371G>A
- NM_001407673.1:c.5371G>A
- NM_001407674.1:c.5371G>A
- NM_001407675.1:c.5371G>A
- NM_001407676.1:c.5371G>A
- NM_001407677.1:c.5371G>A
- NM_001407678.1:c.5371G>A
- NM_001407679.1:c.5371G>A
- NM_001407680.1:c.5371G>A
- NM_001407681.1:c.5368G>A
- NM_001407682.1:c.5368G>A
- NM_001407683.1:c.5368G>A
- NM_001407684.1:c.5368G>A
- NM_001407685.1:c.5368G>A
- NM_001407686.1:c.5368G>A
- NM_001407687.1:c.5368G>A
- NM_001407688.1:c.5368G>A
- NM_001407689.1:c.5368G>A
- NM_001407690.1:c.5365G>A
- NM_001407691.1:c.5365G>A
- NM_001407692.1:c.5356G>A
- NM_001407694.1:c.5356G>A
- NM_001407695.1:c.5356G>A
- NM_001407696.1:c.5356G>A
- NM_001407697.1:c.5356G>A
- NM_001407698.1:c.5356G>A
- NM_001407724.1:c.5356G>A
- NM_001407725.1:c.5356G>A
- NM_001407726.1:c.5356G>A
- NM_001407727.1:c.5356G>A
- NM_001407728.1:c.5356G>A
- NM_001407729.1:c.5356G>A
- NM_001407730.1:c.5356G>A
- NM_001407731.1:c.5356G>A
- NM_001407732.1:c.5353G>A
- NM_001407733.1:c.5353G>A
- NM_001407734.1:c.5353G>A
- NM_001407735.1:c.5353G>A
- NM_001407736.1:c.5353G>A
- NM_001407737.1:c.5353G>A
- NM_001407738.1:c.5353G>A
- NM_001407739.1:c.5353G>A
- NM_001407740.1:c.5353G>A
- NM_001407741.1:c.5353G>A
- NM_001407742.1:c.5353G>A
- NM_001407743.1:c.5353G>A
- NM_001407744.1:c.5353G>A
- NM_001407745.1:c.5353G>A
- NM_001407746.1:c.5353G>A
- NM_001407747.1:c.5353G>A
- NM_001407748.1:c.5353G>A
- NM_001407749.1:c.5353G>A
- NM_001407750.1:c.5353G>A
- NM_001407751.1:c.5353G>A
- NM_001407752.1:c.5353G>A
- NM_001407838.1:c.5350G>A
- NM_001407839.1:c.5350G>A
- NM_001407841.1:c.5350G>A
- NM_001407842.1:c.5350G>A
- NM_001407843.1:c.5350G>A
- NM_001407844.1:c.5350G>A
- NM_001407845.1:c.5350G>A
- NM_001407846.1:c.5350G>A
- NM_001407847.1:c.5350G>A
- NM_001407848.1:c.5350G>A
- NM_001407849.1:c.5350G>A
- NM_001407850.1:c.5350G>A
- NM_001407851.1:c.5350G>A
- NM_001407852.1:c.5350G>A
- NM_001407853.1:c.5350G>A
- NM_001407854.1:c.*11G>A
- NM_001407858.1:c.*11G>A
- NM_001407859.1:c.*11G>A
- NM_001407860.1:c.*11G>A
- NM_001407861.1:c.*11G>A
- NM_001407862.1:c.5296G>A
- NM_001407863.1:c.5293G>A
- NM_001407874.1:c.5290G>A
- NM_001407875.1:c.5290G>A
- NM_001407879.1:c.5287G>A
- NM_001407881.1:c.5287G>A
- NM_001407882.1:c.5287G>A
- NM_001407884.1:c.5287G>A
- NM_001407885.1:c.5287G>A
- NM_001407886.1:c.5287G>A
- NM_001407887.1:c.5287G>A
- NM_001407889.1:c.5287G>A
- NM_001407894.1:c.5284G>A
- NM_001407895.1:c.5284G>A
- NM_001407896.1:c.5284G>A
- NM_001407897.1:c.5284G>A
- NM_001407898.1:c.5284G>A
- NM_001407899.1:c.5284G>A
- NM_001407900.1:c.5284G>A
- NM_001407902.1:c.5284G>A
- NM_001407904.1:c.5284G>A
- NM_001407906.1:c.5284G>A
- NM_001407907.1:c.5284G>A
- NM_001407908.1:c.5284G>A
- NM_001407909.1:c.5284G>A
- NM_001407910.1:c.5284G>A
- NM_001407915.1:c.5281G>A
- NM_001407916.1:c.5281G>A
- NM_001407917.1:c.5281G>A
- NM_001407918.1:c.5281G>A
- NM_001407919.1:c.5245G>A
- NM_001407920.1:c.5233G>A
- NM_001407921.1:c.5233G>A
- NM_001407922.1:c.5233G>A
- NM_001407923.1:c.5233G>A
- NM_001407924.1:c.5233G>A
- NM_001407925.1:c.5233G>A
- NM_001407926.1:c.5233G>A
- NM_001407927.1:c.5230G>A
- NM_001407928.1:c.5230G>A
- NM_001407929.1:c.5230G>A
- NM_001407930.1:c.5230G>A
- NM_001407931.1:c.5230G>A
- NM_001407932.1:c.5230G>A
- NM_001407933.1:c.5230G>A
- NM_001407934.1:c.5227G>A
- NM_001407935.1:c.5227G>A
- NM_001407936.1:c.5227G>A
- NM_001407937.1:c.*11G>A
- NM_001407938.1:c.*11G>A
- NM_001407939.1:c.*11G>A
- NM_001407940.1:c.*11G>A
- NM_001407941.1:c.*11G>A
- NM_001407942.1:c.*11G>A
- NM_001407943.1:c.*11G>A
- NM_001407944.1:c.*11G>A
- NM_001407945.1:c.*11G>A
- NM_001407946.1:c.5164G>A
- NM_001407947.1:c.5164G>A
- NM_001407948.1:c.5164G>A
- NM_001407949.1:c.5164G>A
- NM_001407950.1:c.5161G>A
- NM_001407951.1:c.5161G>A
- NM_001407952.1:c.5161G>A
- NM_001407953.1:c.5161G>A
- NM_001407954.1:c.5161G>A
- NM_001407955.1:c.5161G>A
- NM_001407956.1:c.5158G>A
- NM_001407957.1:c.5158G>A
- NM_001407958.1:c.5158G>A
- NM_001407959.1:c.5116G>A
- NM_001407960.1:c.5113G>A
- NM_001407962.1:c.5113G>A
- NM_001407963.1:c.5110G>A
- NM_001407964.1:c.5035G>A
- NM_001407965.1:c.4990G>A
- NM_001407966.1:c.4609G>A
- NM_001407967.1:c.4606G>A
- NM_001407968.1:c.2893G>A
- NM_001407969.1:c.2890G>A
- NM_001407970.1:c.2254G>A
- NM_001407971.1:c.2254G>A
- NM_001407972.1:c.2251G>A
- NM_001407973.1:c.2188G>A
- NM_001407974.1:c.2188G>A
- NM_001407975.1:c.2188G>A
- NM_001407976.1:c.2188G>A
- NM_001407977.1:c.2188G>A
- NM_001407978.1:c.2188G>A
- NM_001407979.1:c.2185G>A
- NM_001407980.1:c.2185G>A
- NM_001407981.1:c.2185G>A
- NM_001407982.1:c.2185G>A
- NM_001407983.1:c.2185G>A
- NM_001407984.1:c.2185G>A
- NM_001407985.1:c.2185G>A
- NM_001407986.1:c.2185G>A
- NM_001407990.1:c.2185G>A
- NM_001407991.1:c.2185G>A
- NM_001407992.1:c.2185G>A
- NM_001407993.1:c.2185G>A
- NM_001408392.1:c.2182G>A
- NM_001408396.1:c.2182G>A
- NM_001408397.1:c.2182G>A
- NM_001408398.1:c.2182G>A
- NM_001408399.1:c.2182G>A
- NM_001408400.1:c.2182G>A
- NM_001408401.1:c.2182G>A
- NM_001408402.1:c.2182G>A
- NM_001408403.1:c.2182G>A
- NM_001408404.1:c.2182G>A
- NM_001408406.1:c.2179G>A
- NM_001408407.1:c.2179G>A
- NM_001408408.1:c.2179G>A
- NM_001408409.1:c.2176G>A
- NM_001408410.1:c.2113G>A
- NM_001408411.1:c.2110G>A
- NM_001408412.1:c.2107G>A
- NM_001408413.1:c.2107G>A
- NM_001408414.1:c.2107G>A
- NM_001408415.1:c.2107G>A
- NM_001408416.1:c.2107G>A
- NM_001408418.1:c.2071G>A
- NM_001408419.1:c.2071G>A
- NM_001408420.1:c.2071G>A
- NM_001408421.1:c.2068G>A
- NM_001408422.1:c.2068G>A
- NM_001408423.1:c.2068G>A
- NM_001408424.1:c.2068G>A
- NM_001408425.1:c.2065G>A
- NM_001408426.1:c.2065G>A
- NM_001408427.1:c.2065G>A
- NM_001408428.1:c.2065G>A
- NM_001408429.1:c.2065G>A
- NM_001408430.1:c.2065G>A
- NM_001408431.1:c.2065G>A
- NM_001408432.1:c.2062G>A
- NM_001408433.1:c.2062G>A
- NM_001408434.1:c.2062G>A
- NM_001408435.1:c.2062G>A
- NM_001408436.1:c.2062G>A
- NM_001408437.1:c.2062G>A
- NM_001408438.1:c.2062G>A
- NM_001408439.1:c.2062G>A
- NM_001408440.1:c.2062G>A
- NM_001408441.1:c.2062G>A
- NM_001408442.1:c.2062G>A
- NM_001408443.1:c.2062G>A
- NM_001408444.1:c.2062G>A
- NM_001408445.1:c.2059G>A
- NM_001408446.1:c.2059G>A
- NM_001408447.1:c.2059G>A
- NM_001408448.1:c.2059G>A
- NM_001408450.1:c.2059G>A
- NM_001408451.1:c.2053G>A
- NM_001408452.1:c.2047G>A
- NM_001408453.1:c.2047G>A
- NM_001408454.1:c.2047G>A
- NM_001408455.1:c.2047G>A
- NM_001408456.1:c.2047G>A
- NM_001408457.1:c.2047G>A
- NM_001408458.1:c.2044G>A
- NM_001408459.1:c.2044G>A
- NM_001408460.1:c.2044G>A
- NM_001408461.1:c.2044G>A
- NM_001408462.1:c.2044G>A
- NM_001408463.1:c.2044G>A
- NM_001408464.1:c.2044G>A
- NM_001408465.1:c.2044G>A
- NM_001408466.1:c.2044G>A
- NM_001408467.1:c.2044G>A
- NM_001408468.1:c.2041G>A
- NM_001408469.1:c.2041G>A
- NM_001408470.1:c.2041G>A
- NM_001408472.1:c.*11G>A
- NM_001408473.1:c.*11G>A
- NM_001408474.1:c.1987G>A
- NM_001408475.1:c.1984G>A
- NM_001408476.1:c.1984G>A
- NM_001408478.1:c.1978G>A
- NM_001408479.1:c.1978G>A
- NM_001408480.1:c.1978G>A
- NM_001408481.1:c.1975G>A
- NM_001408482.1:c.1975G>A
- NM_001408483.1:c.1975G>A
- NM_001408484.1:c.1975G>A
- NM_001408485.1:c.1975G>A
- NM_001408489.1:c.1975G>A
- NM_001408490.1:c.1975G>A
- NM_001408491.1:c.1975G>A
- NM_001408492.1:c.1972G>A
- NM_001408493.1:c.1972G>A
- NM_001408494.1:c.1948G>A
- NM_001408495.1:c.1942G>A
- NM_001408496.1:c.1924G>A
- NM_001408497.1:c.1924G>A
- NM_001408498.1:c.1924G>A
- NM_001408499.1:c.1924G>A
- NM_001408500.1:c.1924G>A
- NM_001408501.1:c.1924G>A
- NM_001408502.1:c.1921G>A
- NM_001408503.1:c.1921G>A
- NM_001408504.1:c.1921G>A
- NM_001408505.1:c.1918G>A
- NM_001408506.1:c.1861G>A
- NM_001408507.1:c.1858G>A
- NM_001408508.1:c.1849G>A
- NM_001408509.1:c.1846G>A
- NM_001408510.1:c.1807G>A
- NM_001408511.1:c.1804G>A
- NM_001408512.1:c.1684G>A
- NM_001408513.1:c.1657G>A
- NM_001408514.1:c.1261G>A
- NM_007294.4:c.5497G>AMANE SELECT
- NM_007297.4:c.5356G>A
- NM_007298.4:c.2185G>A
- NM_007299.4:c.*11G>A
- NM_007300.4:c.5560G>A
- NM_007304.2:c.2185G>A
- NP_001394500.1:p.Val1762Met
- NP_001394510.1:p.Val1855Met
- NP_001394511.1:p.Val1855Met
- NP_001394512.1:p.Val1854Met
- NP_001394514.1:p.Val1854Met
- NP_001394516.1:p.Val1854Met
- NP_001394519.1:p.Val1853Met
- NP_001394520.1:p.Val1853Met
- NP_001394522.1:p.Val1833Met
- NP_001394523.1:p.Val1833Met
- NP_001394525.1:p.Val1833Met
- NP_001394526.1:p.Val1833Met
- NP_001394527.1:p.Val1833Met
- NP_001394531.1:p.Val1833Met
- NP_001394532.1:p.Val1833Met
- NP_001394534.1:p.Val1833Met
- NP_001394539.1:p.Val1832Met
- NP_001394540.1:p.Val1832Met
- NP_001394541.1:p.Val1832Met
- NP_001394542.1:p.Val1832Met
- NP_001394543.1:p.Val1832Met
- NP_001394544.1:p.Val1832Met
- NP_001394545.1:p.Val1832Met
- NP_001394546.1:p.Val1832Met
- NP_001394547.1:p.Val1832Met
- NP_001394548.1:p.Val1832Met
- NP_001394549.1:p.Val1832Met
- NP_001394550.1:p.Val1832Met
- NP_001394551.1:p.Val1832Met
- NP_001394552.1:p.Val1832Met
- NP_001394553.1:p.Val1832Met
- NP_001394554.1:p.Val1832Met
- NP_001394555.1:p.Val1832Met
- NP_001394556.1:p.Val1831Met
- NP_001394557.1:p.Val1831Met
- NP_001394558.1:p.Val1831Met
- NP_001394559.1:p.Val1831Met
- NP_001394560.1:p.Val1831Met
- NP_001394561.1:p.Val1831Met
- NP_001394562.1:p.Val1831Met
- NP_001394563.1:p.Val1831Met
- NP_001394564.1:p.Val1831Met
- NP_001394565.1:p.Val1831Met
- NP_001394566.1:p.Val1831Met
- NP_001394567.1:p.Val1831Met
- NP_001394568.1:p.Val1831Met
- NP_001394569.1:p.Val1831Met
- NP_001394570.1:p.Val1831Met
- NP_001394571.1:p.Val1831Met
- NP_001394573.1:p.Val1830Met
- NP_001394574.1:p.Val1830Met
- NP_001394575.1:p.Val1829Met
- NP_001394576.1:p.Val1828Met
- NP_001394577.1:p.Val1814Met
- NP_001394578.1:p.Val1813Met
- NP_001394581.1:p.Val1807Met
- NP_001394582.1:p.Val1807Met
- NP_001394583.1:p.Val1807Met
- NP_001394584.1:p.Val1807Met
- NP_001394585.1:p.Val1806Met
- NP_001394586.1:p.Val1806Met
- NP_001394587.1:p.Val1806Met
- NP_001394588.1:p.Val1805Met
- NP_001394589.1:p.Val1805Met
- NP_001394590.1:p.Val1805Met
- NP_001394591.1:p.Val1805Met
- NP_001394592.1:p.Val1805Met
- NP_001394593.1:p.Val1792Met
- NP_001394594.1:p.Val1792Met
- NP_001394595.1:p.Val1792Met
- NP_001394596.1:p.Val1792Met
- NP_001394597.1:p.Val1792Met
- NP_001394598.1:p.Val1792Met
- NP_001394599.1:p.Val1791Met
- NP_001394600.1:p.Val1791Met
- NP_001394601.1:p.Val1791Met
- NP_001394602.1:p.Val1791Met
- NP_001394603.1:p.Val1791Met
- NP_001394604.1:p.Val1791Met
- NP_001394605.1:p.Val1791Met
- NP_001394606.1:p.Val1791Met
- NP_001394607.1:p.Val1791Met
- NP_001394608.1:p.Val1791Met
- NP_001394609.1:p.Val1791Met
- NP_001394610.1:p.Val1790Met
- NP_001394611.1:p.Val1790Met
- NP_001394612.1:p.Val1790Met
- NP_001394613.1:p.Val1790Met
- NP_001394614.1:p.Val1790Met
- NP_001394615.1:p.Val1790Met
- NP_001394616.1:p.Val1790Met
- NP_001394617.1:p.Val1790Met
- NP_001394618.1:p.Val1790Met
- NP_001394619.1:p.Val1789Met
- NP_001394620.1:p.Val1789Met
- NP_001394621.1:p.Val1786Met
- NP_001394623.1:p.Val1786Met
- NP_001394624.1:p.Val1786Met
- NP_001394625.1:p.Val1786Met
- NP_001394626.1:p.Val1786Met
- NP_001394627.1:p.Val1786Met
- NP_001394653.1:p.Val1786Met
- NP_001394654.1:p.Val1786Met
- NP_001394655.1:p.Val1786Met
- NP_001394656.1:p.Val1786Met
- NP_001394657.1:p.Val1786Met
- NP_001394658.1:p.Val1786Met
- NP_001394659.1:p.Val1786Met
- NP_001394660.1:p.Val1786Met
- NP_001394661.1:p.Val1785Met
- NP_001394662.1:p.Val1785Met
- NP_001394663.1:p.Val1785Met
- NP_001394664.1:p.Val1785Met
- NP_001394665.1:p.Val1785Met
- NP_001394666.1:p.Val1785Met
- NP_001394667.1:p.Val1785Met
- NP_001394668.1:p.Val1785Met
- NP_001394669.1:p.Val1785Met
- NP_001394670.1:p.Val1785Met
- NP_001394671.1:p.Val1785Met
- NP_001394672.1:p.Val1785Met
- NP_001394673.1:p.Val1785Met
- NP_001394674.1:p.Val1785Met
- NP_001394675.1:p.Val1785Met
- NP_001394676.1:p.Val1785Met
- NP_001394677.1:p.Val1785Met
- NP_001394678.1:p.Val1785Met
- NP_001394679.1:p.Val1785Met
- NP_001394680.1:p.Val1785Met
- NP_001394681.1:p.Val1785Met
- NP_001394767.1:p.Val1784Met
- NP_001394768.1:p.Val1784Met
- NP_001394770.1:p.Val1784Met
- NP_001394771.1:p.Val1784Met
- NP_001394772.1:p.Val1784Met
- NP_001394773.1:p.Val1784Met
- NP_001394774.1:p.Val1784Met
- NP_001394775.1:p.Val1784Met
- NP_001394776.1:p.Val1784Met
- NP_001394777.1:p.Val1784Met
- NP_001394778.1:p.Val1784Met
- NP_001394779.1:p.Val1784Met
- NP_001394780.1:p.Val1784Met
- NP_001394781.1:p.Val1784Met
- NP_001394782.1:p.Val1784Met
- NP_001394791.1:p.Val1766Met
- NP_001394792.1:p.Val1765Met
- NP_001394803.1:p.Val1764Met
- NP_001394804.1:p.Val1764Met
- NP_001394808.1:p.Val1763Met
- NP_001394810.1:p.Val1763Met
- NP_001394811.1:p.Val1763Met
- NP_001394813.1:p.Val1763Met
- NP_001394814.1:p.Val1763Met
- NP_001394815.1:p.Val1763Met
- NP_001394816.1:p.Val1763Met
- NP_001394818.1:p.Val1763Met
- NP_001394823.1:p.Val1762Met
- NP_001394824.1:p.Val1762Met
- NP_001394825.1:p.Val1762Met
- NP_001394826.1:p.Val1762Met
- NP_001394827.1:p.Val1762Met
- NP_001394828.1:p.Val1762Met
- NP_001394829.1:p.Val1762Met
- NP_001394831.1:p.Val1762Met
- NP_001394833.1:p.Val1762Met
- NP_001394835.1:p.Val1762Met
- NP_001394836.1:p.Val1762Met
- NP_001394837.1:p.Val1762Met
- NP_001394838.1:p.Val1762Met
- NP_001394839.1:p.Val1762Met
- NP_001394844.1:p.Val1761Met
- NP_001394845.1:p.Val1761Met
- NP_001394846.1:p.Val1761Met
- NP_001394847.1:p.Val1761Met
- NP_001394848.1:p.Val1749Met
- NP_001394849.1:p.Val1745Met
- NP_001394850.1:p.Val1745Met
- NP_001394851.1:p.Val1745Met
- NP_001394852.1:p.Val1745Met
- NP_001394853.1:p.Val1745Met
- NP_001394854.1:p.Val1745Met
- NP_001394855.1:p.Val1745Met
- NP_001394856.1:p.Val1744Met
- NP_001394857.1:p.Val1744Met
- NP_001394858.1:p.Val1744Met
- NP_001394859.1:p.Val1744Met
- NP_001394860.1:p.Val1744Met
- NP_001394861.1:p.Val1744Met
- NP_001394862.1:p.Val1744Met
- NP_001394863.1:p.Val1743Met
- NP_001394864.1:p.Val1743Met
- NP_001394865.1:p.Val1743Met
- NP_001394875.1:p.Val1722Met
- NP_001394876.1:p.Val1722Met
- NP_001394877.1:p.Val1722Met
- NP_001394878.1:p.Val1722Met
- NP_001394879.1:p.Val1721Met
- NP_001394880.1:p.Val1721Met
- NP_001394881.1:p.Val1721Met
- NP_001394882.1:p.Val1721Met
- NP_001394883.1:p.Val1721Met
- NP_001394884.1:p.Val1721Met
- NP_001394885.1:p.Val1720Met
- NP_001394886.1:p.Val1720Met
- NP_001394887.1:p.Val1720Met
- NP_001394888.1:p.Val1706Met
- NP_001394889.1:p.Val1705Met
- NP_001394891.1:p.Val1705Met
- NP_001394892.1:p.Val1704Met
- NP_001394893.1:p.Val1679Met
- NP_001394894.1:p.Val1664Met
- NP_001394895.1:p.Val1537Met
- NP_001394896.1:p.Val1536Met
- NP_001394897.1:p.Val965Met
- NP_001394898.1:p.Val964Met
- NP_001394899.1:p.Val752Met
- NP_001394900.1:p.Val752Met
- NP_001394901.1:p.Val751Met
- NP_001394902.1:p.Val730Met
- NP_001394903.1:p.Val730Met
- NP_001394904.1:p.Val730Met
- NP_001394905.1:p.Val730Met
- NP_001394906.1:p.Val730Met
- NP_001394907.1:p.Val730Met
- NP_001394908.1:p.Val729Met
- NP_001394909.1:p.Val729Met
- NP_001394910.1:p.Val729Met
- NP_001394911.1:p.Val729Met
- NP_001394912.1:p.Val729Met
- NP_001394913.1:p.Val729Met
- NP_001394914.1:p.Val729Met
- NP_001394915.1:p.Val729Met
- NP_001394919.1:p.Val729Met
- NP_001394920.1:p.Val729Met
- NP_001394921.1:p.Val729Met
- NP_001394922.1:p.Val729Met
- NP_001395321.1:p.Val728Met
- NP_001395325.1:p.Val728Met
- NP_001395326.1:p.Val728Met
- NP_001395327.1:p.Val728Met
- NP_001395328.1:p.Val728Met
- NP_001395329.1:p.Val728Met
- NP_001395330.1:p.Val728Met
- NP_001395331.1:p.Val728Met
- NP_001395332.1:p.Val728Met
- NP_001395333.1:p.Val728Met
- NP_001395335.1:p.Val727Met
- NP_001395336.1:p.Val727Met
- NP_001395337.1:p.Val727Met
- NP_001395338.1:p.Val726Met
- NP_001395339.1:p.Val705Met
- NP_001395340.1:p.Val704Met
- NP_001395341.1:p.Val703Met
- NP_001395342.1:p.Val703Met
- NP_001395343.1:p.Val703Met
- NP_001395344.1:p.Val703Met
- NP_001395345.1:p.Val703Met
- NP_001395347.1:p.Val691Met
- NP_001395348.1:p.Val691Met
- NP_001395349.1:p.Val691Met
- NP_001395350.1:p.Val690Met
- NP_001395351.1:p.Val690Met
- NP_001395352.1:p.Val690Met
- NP_001395353.1:p.Val690Met
- NP_001395354.1:p.Val689Met
- NP_001395355.1:p.Val689Met
- NP_001395356.1:p.Val689Met
- NP_001395357.1:p.Val689Met
- NP_001395358.1:p.Val689Met
- NP_001395359.1:p.Val689Met
- NP_001395360.1:p.Val689Met
- NP_001395361.1:p.Val688Met
- NP_001395362.1:p.Val688Met
- NP_001395363.1:p.Val688Met
- NP_001395364.1:p.Val688Met
- NP_001395365.1:p.Val688Met
- NP_001395366.1:p.Val688Met
- NP_001395367.1:p.Val688Met
- NP_001395368.1:p.Val688Met
- NP_001395369.1:p.Val688Met
- NP_001395370.1:p.Val688Met
- NP_001395371.1:p.Val688Met
- NP_001395372.1:p.Val688Met
- NP_001395373.1:p.Val688Met
- NP_001395374.1:p.Val687Met
- NP_001395375.1:p.Val687Met
- NP_001395376.1:p.Val687Met
- NP_001395377.1:p.Val687Met
- NP_001395379.1:p.Val687Met
- NP_001395380.1:p.Val685Met
- NP_001395381.1:p.Val683Met
- NP_001395382.1:p.Val683Met
- NP_001395383.1:p.Val683Met
- NP_001395384.1:p.Val683Met
- NP_001395385.1:p.Val683Met
- NP_001395386.1:p.Val683Met
- NP_001395387.1:p.Val682Met
- NP_001395388.1:p.Val682Met
- NP_001395389.1:p.Val682Met
- NP_001395390.1:p.Val682Met
- NP_001395391.1:p.Val682Met
- NP_001395392.1:p.Val682Met
- NP_001395393.1:p.Val682Met
- NP_001395394.1:p.Val682Met
- NP_001395395.1:p.Val682Met
- NP_001395396.1:p.Val682Met
- NP_001395397.1:p.Val681Met
- NP_001395398.1:p.Val681Met
- NP_001395399.1:p.Val681Met
- NP_001395403.1:p.Val663Met
- NP_001395404.1:p.Val662Met
- NP_001395405.1:p.Val662Met
- NP_001395407.1:p.Val660Met
- NP_001395408.1:p.Val660Met
- NP_001395409.1:p.Val660Met
- NP_001395410.1:p.Val659Met
- NP_001395411.1:p.Val659Met
- NP_001395412.1:p.Val659Met
- NP_001395413.1:p.Val659Met
- NP_001395414.1:p.Val659Met
- NP_001395418.1:p.Val659Met
- NP_001395419.1:p.Val659Met
- NP_001395420.1:p.Val659Met
- NP_001395421.1:p.Val658Met
- NP_001395422.1:p.Val658Met
- NP_001395423.1:p.Val650Met
- NP_001395424.1:p.Val648Met
- NP_001395425.1:p.Val642Met
- NP_001395426.1:p.Val642Met
- NP_001395427.1:p.Val642Met
- NP_001395428.1:p.Val642Met
- NP_001395429.1:p.Val642Met
- NP_001395430.1:p.Val642Met
- NP_001395431.1:p.Val641Met
- NP_001395432.1:p.Val641Met
- NP_001395433.1:p.Val641Met
- NP_001395434.1:p.Val640Met
- NP_001395435.1:p.Val621Met
- NP_001395436.1:p.Val620Met
- NP_001395437.1:p.Val617Met
- NP_001395438.1:p.Val616Met
- NP_001395439.1:p.Val603Met
- NP_001395440.1:p.Val602Met
- NP_001395441.1:p.Val562Met
- NP_001395442.1:p.Val553Met
- NP_001395443.1:p.Val421Met
- NP_009225.1:p.Val1833Met
- NP_009225.1:p.Val1833Met
- NP_009228.2:p.Val1786Met
- NP_009229.2:p.Val729Met
- NP_009229.2:p.Val729Met
- NP_009231.2:p.Val1854Met
- NP_009235.2:p.Val729Met
- LRG_292t1:c.5497G>A
- LRG_292:g.172211G>A
- LRG_292p1:p.Val1833Met
- NC_000017.10:g.41197790C>T
- NM_007294.3:c.5497G>A
- NM_007298.3:c.2185G>A
- NR_027676.2:n.5674G>A
- U14680.1:n.5616G>A
- p.V1833M
This HGVS expression did not pass validation- Nucleotide change:
- 5616G>A
- Protein change:
- V1536M
- Links:
- dbSNP: rs80357268
- NCBI 1000 Genomes Browser:
- rs80357268
- Molecular consequence:
- NM_007299.4:c.*11G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
- NM_001407571.1:c.5284G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407581.1:c.5563G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407582.1:c.5563G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407583.1:c.5560G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407585.1:c.5560G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407587.1:c.5560G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407590.1:c.5557G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407591.1:c.5557G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407593.1:c.5497G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407594.1:c.5497G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407596.1:c.5497G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407597.1:c.5497G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407598.1:c.5497G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407602.1:c.5497G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407603.1:c.5497G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407605.1:c.5497G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407610.1:c.5494G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407611.1:c.5494G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407612.1:c.5494G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407613.1:c.5494G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407614.1:c.5494G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407615.1:c.5494G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407616.1:c.5494G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407617.1:c.5494G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407618.1:c.5494G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407619.1:c.5494G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407620.1:c.5494G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407621.1:c.5494G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407622.1:c.5494G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407623.1:c.5494G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407624.1:c.5494G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407625.1:c.5494G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407626.1:c.5494G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407627.1:c.5491G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407628.1:c.5491G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407629.1:c.5491G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407630.1:c.5491G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407631.1:c.5491G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407632.1:c.5491G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407633.1:c.5491G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407634.1:c.5491G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407635.1:c.5491G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407636.1:c.5491G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407637.1:c.5491G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407638.1:c.5491G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407639.1:c.5491G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407640.1:c.5491G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407641.1:c.5491G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407642.1:c.5491G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407644.1:c.5488G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407645.1:c.5488G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407646.1:c.5485G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407647.1:c.5482G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407648.1:c.5440G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407649.1:c.5437G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407652.1:c.5419G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407653.1:c.5419G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407654.1:c.5419G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407655.1:c.5419G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407656.1:c.5416G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407657.1:c.5416G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407658.1:c.5416G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407659.1:c.5413G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407660.1:c.5413G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407661.1:c.5413G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407662.1:c.5413G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407663.1:c.5413G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407664.1:c.5374G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407665.1:c.5374G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407666.1:c.5374G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407667.1:c.5374G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407668.1:c.5374G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407669.1:c.5374G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407670.1:c.5371G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407671.1:c.5371G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407672.1:c.5371G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407673.1:c.5371G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407674.1:c.5371G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407675.1:c.5371G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407676.1:c.5371G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407677.1:c.5371G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407678.1:c.5371G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407679.1:c.5371G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407680.1:c.5371G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407681.1:c.5368G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407682.1:c.5368G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407683.1:c.5368G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407684.1:c.5368G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407685.1:c.5368G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407686.1:c.5368G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407687.1:c.5368G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407688.1:c.5368G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407689.1:c.5368G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407690.1:c.5365G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407691.1:c.5365G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407692.1:c.5356G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407694.1:c.5356G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407695.1:c.5356G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407696.1:c.5356G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407697.1:c.5356G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407698.1:c.5356G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407724.1:c.5356G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407725.1:c.5356G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407726.1:c.5356G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407727.1:c.5356G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407728.1:c.5356G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407729.1:c.5356G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407730.1:c.5356G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407731.1:c.5356G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407732.1:c.5353G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407733.1:c.5353G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407734.1:c.5353G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407735.1:c.5353G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407736.1:c.5353G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407737.1:c.5353G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407738.1:c.5353G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407739.1:c.5353G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407740.1:c.5353G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407741.1:c.5353G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407742.1:c.5353G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407743.1:c.5353G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407744.1:c.5353G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407745.1:c.5353G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407746.1:c.5353G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407747.1:c.5353G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407748.1:c.5353G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407749.1:c.5353G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407750.1:c.5353G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407751.1:c.5353G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407752.1:c.5353G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407838.1:c.5350G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407839.1:c.5350G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407841.1:c.5350G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407842.1:c.5350G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407843.1:c.5350G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407844.1:c.5350G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407845.1:c.5350G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407846.1:c.5350G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407847.1:c.5350G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407848.1:c.5350G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407849.1:c.5350G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407850.1:c.5350G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407851.1:c.5350G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407852.1:c.5350G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407853.1:c.5350G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407862.1:c.5296G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407863.1:c.5293G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407874.1:c.5290G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407875.1:c.5290G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407879.1:c.5287G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407881.1:c.5287G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407882.1:c.5287G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407884.1:c.5287G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407885.1:c.5287G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407886.1:c.5287G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407887.1:c.5287G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407889.1:c.5287G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407894.1:c.5284G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407895.1:c.5284G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407896.1:c.5284G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407897.1:c.5284G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407898.1:c.5284G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407899.1:c.5284G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407900.1:c.5284G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407902.1:c.5284G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407904.1:c.5284G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407906.1:c.5284G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407907.1:c.5284G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407908.1:c.5284G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407909.1:c.5284G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407910.1:c.5284G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407915.1:c.5281G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407916.1:c.5281G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407917.1:c.5281G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407918.1:c.5281G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407919.1:c.5245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407920.1:c.5233G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407921.1:c.5233G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407922.1:c.5233G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407923.1:c.5233G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407924.1:c.5233G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407925.1:c.5233G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407926.1:c.5233G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407927.1:c.5230G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407928.1:c.5230G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407929.1:c.5230G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407930.1:c.5230G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407931.1:c.5230G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407932.1:c.5230G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407933.1:c.5230G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407934.1:c.5227G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407935.1:c.5227G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407936.1:c.5227G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407946.1:c.5164G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407947.1:c.5164G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407948.1:c.5164G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407949.1:c.5164G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407950.1:c.5161G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407951.1:c.5161G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407952.1:c.5161G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407953.1:c.5161G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407954.1:c.5161G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407955.1:c.5161G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407956.1:c.5158G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407957.1:c.5158G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407958.1:c.5158G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407959.1:c.5116G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407960.1:c.5113G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407962.1:c.5113G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407963.1:c.5110G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407964.1:c.5035G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407965.1:c.4990G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407966.1:c.4609G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407967.1:c.4606G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407968.1:c.2893G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407969.1:c.2890G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407970.1:c.2254G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407971.1:c.2254G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407972.1:c.2251G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407973.1:c.2188G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407974.1:c.2188G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407975.1:c.2188G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407976.1:c.2188G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407977.1:c.2188G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407978.1:c.2188G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407979.1:c.2185G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407980.1:c.2185G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407981.1:c.2185G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407982.1:c.2185G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407983.1:c.2185G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407984.1:c.2185G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407985.1:c.2185G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407986.1:c.2185G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407990.1:c.2185G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407991.1:c.2185G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407992.1:c.2185G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407993.1:c.2185G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408392.1:c.2182G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408396.1:c.2182G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408397.1:c.2182G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408398.1:c.2182G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408399.1:c.2182G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408400.1:c.2182G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408401.1:c.2182G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408402.1:c.2182G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408403.1:c.2182G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408404.1:c.2182G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408406.1:c.2179G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408407.1:c.2179G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408408.1:c.2179G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408409.1:c.2176G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408410.1:c.2113G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408411.1:c.2110G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408412.1:c.2107G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408413.1:c.2107G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408414.1:c.2107G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408415.1:c.2107G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408416.1:c.2107G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408418.1:c.2071G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408419.1:c.2071G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408420.1:c.2071G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408421.1:c.2068G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408422.1:c.2068G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408423.1:c.2068G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408424.1:c.2068G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408425.1:c.2065G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408426.1:c.2065G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408427.1:c.2065G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408428.1:c.2065G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408429.1:c.2065G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408430.1:c.2065G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408431.1:c.2065G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408432.1:c.2062G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408433.1:c.2062G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408434.1:c.2062G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408435.1:c.2062G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408436.1:c.2062G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408437.1:c.2062G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408438.1:c.2062G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408439.1:c.2062G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408440.1:c.2062G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408441.1:c.2062G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408442.1:c.2062G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408443.1:c.2062G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408444.1:c.2062G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408445.1:c.2059G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408446.1:c.2059G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408447.1:c.2059G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408448.1:c.2059G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408450.1:c.2059G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408451.1:c.2053G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408452.1:c.2047G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408453.1:c.2047G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408454.1:c.2047G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408455.1:c.2047G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408456.1:c.2047G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408457.1:c.2047G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408458.1:c.2044G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408459.1:c.2044G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408460.1:c.2044G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408461.1:c.2044G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408462.1:c.2044G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408463.1:c.2044G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408464.1:c.2044G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408465.1:c.2044G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408466.1:c.2044G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408467.1:c.2044G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408468.1:c.2041G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408469.1:c.2041G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408470.1:c.2041G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408474.1:c.1987G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408475.1:c.1984G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408476.1:c.1984G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408478.1:c.1978G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408479.1:c.1978G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408480.1:c.1978G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408481.1:c.1975G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408482.1:c.1975G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408483.1:c.1975G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408484.1:c.1975G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408485.1:c.1975G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408489.1:c.1975G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408490.1:c.1975G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408491.1:c.1975G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408492.1:c.1972G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408493.1:c.1972G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408494.1:c.1948G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408495.1:c.1942G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408496.1:c.1924G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408497.1:c.1924G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408498.1:c.1924G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408499.1:c.1924G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408500.1:c.1924G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408501.1:c.1924G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408502.1:c.1921G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408503.1:c.1921G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408504.1:c.1921G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408505.1:c.1918G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408506.1:c.1861G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408507.1:c.1858G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408508.1:c.1849G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408509.1:c.1846G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408510.1:c.1807G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408511.1:c.1804G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408512.1:c.1684G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408513.1:c.1657G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408514.1:c.1261G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_007294.4:c.5497G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_007297.4:c.5356G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_007298.4:c.2185G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_007300.4:c.5560G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_007304.2:c.2185G>A - missense variant - [Sequence Ontology: SO:0001583]
- NR_027676.2:n.5674G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- Functional consequence:
- functionally_abnormal [Sequence Ontology: SO:0002218] - Comment(s)
- The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5497G>A, a MISSENSE variant, produced a function score of -2.18, corresponding to a functional classification of LOSS_OF_FUNCTION. SGE function score ranges for classification are as follows: ‘functional’, score > -0.748; ‘intermediate’, -0.748 > score > -1.328; ‘non-functional’, score < -1.328. The median synonymous SNV scored 0.0 and the median nonsense SNV scored -2.12.
- Observations:
- 1
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
Homo sapiens BBP-like protein 1 (BLP1), mRNA
Homo sapiens BBP-like protein 1 (BLP1), mRNAgi|13994326|ref|NM_031940.1|Nucleotide
-
Homo sapiens TRM2 tRNA methyltransferase 2 homolog B (S. cerevisiae), mRNA (cDNA...
Homo sapiens TRM2 tRNA methyltransferase 2 homolog B (S. cerevisiae), mRNA (cDNA clone MGC:15024 IMAGE:2988022), complete cdsgi|14043084|gb|BC007526.1|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000322039 | GeneDx | criteria provided, single submitter (GeneDx Variant Classification (06012015)) | Likely pathogenic (May 6, 2016) | germline | clinical testing | |
SCV000591635 | Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR)
| no assertion criteria provided | Uncertain significance | unknown | clinical testing | |
SCV001447942 | Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen | criteria provided, single submitter (ACMG Guidelines, 2015) | Likely pathogenic (Oct 23, 2020) | germline | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | germline | yes | not provided | not provided | not provided | 1 | not provided | clinical testing |
not provided | unknown | yes | 1 | not provided | not provided | not provided | not provided | clinical testing |
Citations
PubMed
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.
- PMID:
- 25741868
- PMCID:
- PMC4544753
Details of each submission
From GeneDx, SCV000322039.7
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
Description
This variant is denoted BRCA1 c.5497G>A at the cDNA level, p.Val1833Met (V1833M) at the protein level, and results in the change of a Valine to a Methionine (GTG>ATG). This variant, also published as BRCA1 5616G>A using alternate nomenclature, has been reported in association with breast and ovarian cancer (Ladopoulou 2002, Pal 2005, Stavropoulou 2013). While BRCA1 Val1833Met has been associated with binding activity similar to wild type, functional assays also report it significantly reduces, but does not destroy, transactivation activity in both yeast and human embryonic cell models, mildly to severely impacts protein thermostability, and abrogates the small colony phenotype in yeast (Coyne 2004, Nikolopoulos 2007, Carvalho 2009, Lee 2010, Rowling 2010). BRCA1 Val1833Met was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. Since Valine and Methionine share similar properties, this is considered a conservative amino acid substitution. BRCA1 Val1833Met occurs at a position that is conserved in mammals and is located within the BRCT2 domain and a region known to interact with multiple proteins (Paul 2014, UniProt). In silico analyses predict that this variant is probably damaging to protein structure and function. Based on the currently available evidence, we consider BRCA1 Val1833Met to be a likely pathogenic variant.
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | yes | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV000591635.2
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | 1 | not provided | not provided | clinical testing | not provided |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | unknown | yes | not provided | not provided | not provided | 1 | not provided | not provided | not provided |
From Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, SCV001447942.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | yes | 1 | not provided | not provided | not provided | not provided | not provided | not provided |
Last Updated: Oct 8, 2024