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NM_007294.4(BRCA1):c.5431C>T (p.Gln1811Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 2, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001024097.12

Allele description [Variation Report for NM_007294.4(BRCA1):c.5431C>T (p.Gln1811Ter)]

NM_007294.4(BRCA1):c.5431C>T (p.Gln1811Ter)

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.5431C>T (p.Gln1811Ter)
Other names:
5550C>T-Gln1811ter
HGVS:
  • NC_000017.11:g.43047679G>A
  • NG_005905.2:g.170305C>T
  • NM_001407571.1:c.5218C>T
  • NM_001407581.1:c.5497C>T
  • NM_001407582.1:c.5497C>T
  • NM_001407583.1:c.5494C>T
  • NM_001407585.1:c.5494C>T
  • NM_001407587.1:c.5494C>T
  • NM_001407590.1:c.5491C>T
  • NM_001407591.1:c.5491C>T
  • NM_001407593.1:c.5431C>T
  • NM_001407594.1:c.5431C>T
  • NM_001407596.1:c.5431C>T
  • NM_001407597.1:c.5431C>T
  • NM_001407598.1:c.5431C>T
  • NM_001407602.1:c.5431C>T
  • NM_001407603.1:c.5431C>T
  • NM_001407605.1:c.5431C>T
  • NM_001407610.1:c.5428C>T
  • NM_001407611.1:c.5428C>T
  • NM_001407612.1:c.5428C>T
  • NM_001407613.1:c.5428C>T
  • NM_001407614.1:c.5428C>T
  • NM_001407615.1:c.5428C>T
  • NM_001407616.1:c.5428C>T
  • NM_001407617.1:c.5428C>T
  • NM_001407618.1:c.5428C>T
  • NM_001407619.1:c.5428C>T
  • NM_001407620.1:c.5428C>T
  • NM_001407621.1:c.5428C>T
  • NM_001407622.1:c.5428C>T
  • NM_001407623.1:c.5428C>T
  • NM_001407624.1:c.5428C>T
  • NM_001407625.1:c.5428C>T
  • NM_001407626.1:c.5428C>T
  • NM_001407627.1:c.5425C>T
  • NM_001407628.1:c.5425C>T
  • NM_001407629.1:c.5425C>T
  • NM_001407630.1:c.5425C>T
  • NM_001407631.1:c.5425C>T
  • NM_001407632.1:c.5425C>T
  • NM_001407633.1:c.5425C>T
  • NM_001407634.1:c.5425C>T
  • NM_001407635.1:c.5425C>T
  • NM_001407636.1:c.5425C>T
  • NM_001407637.1:c.5425C>T
  • NM_001407638.1:c.5425C>T
  • NM_001407639.1:c.5425C>T
  • NM_001407640.1:c.5425C>T
  • NM_001407641.1:c.5425C>T
  • NM_001407642.1:c.5425C>T
  • NM_001407644.1:c.5422C>T
  • NM_001407645.1:c.5422C>T
  • NM_001407646.1:c.5419C>T
  • NM_001407647.1:c.5416C>T
  • NM_001407648.1:c.5374C>T
  • NM_001407649.1:c.5371C>T
  • NM_001407652.1:c.5353C>T
  • NM_001407653.1:c.5353C>T
  • NM_001407654.1:c.5353C>T
  • NM_001407655.1:c.5353C>T
  • NM_001407656.1:c.5350C>T
  • NM_001407657.1:c.5350C>T
  • NM_001407658.1:c.5350C>T
  • NM_001407659.1:c.5347C>T
  • NM_001407660.1:c.5347C>T
  • NM_001407661.1:c.5347C>T
  • NM_001407662.1:c.5347C>T
  • NM_001407663.1:c.5347C>T
  • NM_001407664.1:c.5308C>T
  • NM_001407665.1:c.5308C>T
  • NM_001407666.1:c.5308C>T
  • NM_001407667.1:c.5308C>T
  • NM_001407668.1:c.5308C>T
  • NM_001407669.1:c.5308C>T
  • NM_001407670.1:c.5305C>T
  • NM_001407671.1:c.5305C>T
  • NM_001407672.1:c.5305C>T
  • NM_001407673.1:c.5305C>T
  • NM_001407674.1:c.5305C>T
  • NM_001407675.1:c.5305C>T
  • NM_001407676.1:c.5305C>T
  • NM_001407677.1:c.5305C>T
  • NM_001407678.1:c.5305C>T
  • NM_001407679.1:c.5305C>T
  • NM_001407680.1:c.5305C>T
  • NM_001407681.1:c.5302C>T
  • NM_001407682.1:c.5302C>T
  • NM_001407683.1:c.5302C>T
  • NM_001407684.1:c.5302C>T
  • NM_001407685.1:c.5302C>T
  • NM_001407686.1:c.5302C>T
  • NM_001407687.1:c.5302C>T
  • NM_001407688.1:c.5302C>T
  • NM_001407689.1:c.5302C>T
  • NM_001407690.1:c.5299C>T
  • NM_001407691.1:c.5299C>T
  • NM_001407692.1:c.5290C>T
  • NM_001407694.1:c.5290C>T
  • NM_001407695.1:c.5290C>T
  • NM_001407696.1:c.5290C>T
  • NM_001407697.1:c.5290C>T
  • NM_001407698.1:c.5290C>T
  • NM_001407724.1:c.5290C>T
  • NM_001407725.1:c.5290C>T
  • NM_001407726.1:c.5290C>T
  • NM_001407727.1:c.5290C>T
  • NM_001407728.1:c.5290C>T
  • NM_001407729.1:c.5290C>T
  • NM_001407730.1:c.5290C>T
  • NM_001407731.1:c.5290C>T
  • NM_001407732.1:c.5287C>T
  • NM_001407733.1:c.5287C>T
  • NM_001407734.1:c.5287C>T
  • NM_001407735.1:c.5287C>T
  • NM_001407736.1:c.5287C>T
  • NM_001407737.1:c.5287C>T
  • NM_001407738.1:c.5287C>T
  • NM_001407739.1:c.5287C>T
  • NM_001407740.1:c.5287C>T
  • NM_001407741.1:c.5287C>T
  • NM_001407742.1:c.5287C>T
  • NM_001407743.1:c.5287C>T
  • NM_001407744.1:c.5287C>T
  • NM_001407745.1:c.5287C>T
  • NM_001407746.1:c.5287C>T
  • NM_001407747.1:c.5287C>T
  • NM_001407748.1:c.5287C>T
  • NM_001407749.1:c.5287C>T
  • NM_001407750.1:c.5287C>T
  • NM_001407751.1:c.5287C>T
  • NM_001407752.1:c.5287C>T
  • NM_001407838.1:c.5284C>T
  • NM_001407839.1:c.5284C>T
  • NM_001407841.1:c.5284C>T
  • NM_001407842.1:c.5284C>T
  • NM_001407843.1:c.5284C>T
  • NM_001407844.1:c.5284C>T
  • NM_001407845.1:c.5284C>T
  • NM_001407846.1:c.5284C>T
  • NM_001407847.1:c.5284C>T
  • NM_001407848.1:c.5284C>T
  • NM_001407849.1:c.5284C>T
  • NM_001407850.1:c.5284C>T
  • NM_001407851.1:c.5284C>T
  • NM_001407852.1:c.5284C>T
  • NM_001407853.1:c.5284C>T
  • NM_001407854.1:c.5357C>T
  • NM_001407858.1:c.5354C>T
  • NM_001407859.1:c.5354C>T
  • NM_001407860.1:c.5354C>T
  • NM_001407861.1:c.5351C>T
  • NM_001407862.1:c.5230C>T
  • NM_001407863.1:c.5227C>T
  • NM_001407874.1:c.5224C>T
  • NM_001407875.1:c.5224C>T
  • NM_001407879.1:c.5221C>T
  • NM_001407881.1:c.5221C>T
  • NM_001407882.1:c.5221C>T
  • NM_001407884.1:c.5221C>T
  • NM_001407885.1:c.5221C>T
  • NM_001407886.1:c.5221C>T
  • NM_001407887.1:c.5221C>T
  • NM_001407889.1:c.5221C>T
  • NM_001407894.1:c.5218C>T
  • NM_001407895.1:c.5218C>T
  • NM_001407896.1:c.5218C>T
  • NM_001407897.1:c.5218C>T
  • NM_001407898.1:c.5218C>T
  • NM_001407899.1:c.5218C>T
  • NM_001407900.1:c.5218C>T
  • NM_001407902.1:c.5218C>T
  • NM_001407904.1:c.5218C>T
  • NM_001407906.1:c.5218C>T
  • NM_001407907.1:c.5218C>T
  • NM_001407908.1:c.5218C>T
  • NM_001407909.1:c.5218C>T
  • NM_001407910.1:c.5218C>T
  • NM_001407915.1:c.5215C>T
  • NM_001407916.1:c.5215C>T
  • NM_001407917.1:c.5215C>T
  • NM_001407918.1:c.5215C>T
  • NM_001407919.1:c.5179C>T
  • NM_001407920.1:c.5167C>T
  • NM_001407921.1:c.5167C>T
  • NM_001407922.1:c.5167C>T
  • NM_001407923.1:c.5167C>T
  • NM_001407924.1:c.5167C>T
  • NM_001407925.1:c.5167C>T
  • NM_001407926.1:c.5167C>T
  • NM_001407927.1:c.5164C>T
  • NM_001407928.1:c.5164C>T
  • NM_001407929.1:c.5164C>T
  • NM_001407930.1:c.5164C>T
  • NM_001407931.1:c.5164C>T
  • NM_001407932.1:c.5164C>T
  • NM_001407933.1:c.5164C>T
  • NM_001407934.1:c.5161C>T
  • NM_001407935.1:c.5161C>T
  • NM_001407936.1:c.5161C>T
  • NM_001407937.1:c.5234C>T
  • NM_001407938.1:c.5234C>T
  • NM_001407939.1:c.5231C>T
  • NM_001407940.1:c.5231C>T
  • NM_001407941.1:c.5228C>T
  • NM_001407942.1:c.5216C>T
  • NM_001407943.1:c.5213C>T
  • NM_001407944.1:c.5213C>T
  • NM_001407945.1:c.5213C>T
  • NM_001407946.1:c.5098C>T
  • NM_001407947.1:c.5098C>T
  • NM_001407948.1:c.5098C>T
  • NM_001407949.1:c.5098C>T
  • NM_001407950.1:c.5095C>T
  • NM_001407951.1:c.5095C>T
  • NM_001407952.1:c.5095C>T
  • NM_001407953.1:c.5095C>T
  • NM_001407954.1:c.5095C>T
  • NM_001407955.1:c.5095C>T
  • NM_001407956.1:c.5092C>T
  • NM_001407957.1:c.5092C>T
  • NM_001407958.1:c.5092C>T
  • NM_001407959.1:c.5050C>T
  • NM_001407960.1:c.5047C>T
  • NM_001407962.1:c.5047C>T
  • NM_001407963.1:c.5044C>T
  • NM_001407964.1:c.4969C>T
  • NM_001407965.1:c.4924C>T
  • NM_001407966.1:c.4543C>T
  • NM_001407967.1:c.4540C>T
  • NM_001407968.1:c.2827C>T
  • NM_001407969.1:c.2824C>T
  • NM_001407970.1:c.2188C>T
  • NM_001407971.1:c.2188C>T
  • NM_001407972.1:c.2185C>T
  • NM_001407973.1:c.2122C>T
  • NM_001407974.1:c.2122C>T
  • NM_001407975.1:c.2122C>T
  • NM_001407976.1:c.2122C>T
  • NM_001407977.1:c.2122C>T
  • NM_001407978.1:c.2122C>T
  • NM_001407979.1:c.2119C>T
  • NM_001407980.1:c.2119C>T
  • NM_001407981.1:c.2119C>T
  • NM_001407982.1:c.2119C>T
  • NM_001407983.1:c.2119C>T
  • NM_001407984.1:c.2119C>T
  • NM_001407985.1:c.2119C>T
  • NM_001407986.1:c.2119C>T
  • NM_001407990.1:c.2119C>T
  • NM_001407991.1:c.2119C>T
  • NM_001407992.1:c.2119C>T
  • NM_001407993.1:c.2119C>T
  • NM_001408392.1:c.2116C>T
  • NM_001408396.1:c.2116C>T
  • NM_001408397.1:c.2116C>T
  • NM_001408398.1:c.2116C>T
  • NM_001408399.1:c.2116C>T
  • NM_001408400.1:c.2116C>T
  • NM_001408401.1:c.2116C>T
  • NM_001408402.1:c.2116C>T
  • NM_001408403.1:c.2116C>T
  • NM_001408404.1:c.2116C>T
  • NM_001408406.1:c.2113C>T
  • NM_001408407.1:c.2113C>T
  • NM_001408408.1:c.2113C>T
  • NM_001408409.1:c.2110C>T
  • NM_001408410.1:c.2047C>T
  • NM_001408411.1:c.2044C>T
  • NM_001408412.1:c.2041C>T
  • NM_001408413.1:c.2041C>T
  • NM_001408414.1:c.2041C>T
  • NM_001408415.1:c.2041C>T
  • NM_001408416.1:c.2041C>T
  • NM_001408418.1:c.2005C>T
  • NM_001408419.1:c.2005C>T
  • NM_001408420.1:c.2005C>T
  • NM_001408421.1:c.2002C>T
  • NM_001408422.1:c.2002C>T
  • NM_001408423.1:c.2002C>T
  • NM_001408424.1:c.2002C>T
  • NM_001408425.1:c.1999C>T
  • NM_001408426.1:c.1999C>T
  • NM_001408427.1:c.1999C>T
  • NM_001408428.1:c.1999C>T
  • NM_001408429.1:c.1999C>T
  • NM_001408430.1:c.1999C>T
  • NM_001408431.1:c.1999C>T
  • NM_001408432.1:c.1996C>T
  • NM_001408433.1:c.1996C>T
  • NM_001408434.1:c.1996C>T
  • NM_001408435.1:c.1996C>T
  • NM_001408436.1:c.1996C>T
  • NM_001408437.1:c.1996C>T
  • NM_001408438.1:c.1996C>T
  • NM_001408439.1:c.1996C>T
  • NM_001408440.1:c.1996C>T
  • NM_001408441.1:c.1996C>T
  • NM_001408442.1:c.1996C>T
  • NM_001408443.1:c.1996C>T
  • NM_001408444.1:c.1996C>T
  • NM_001408445.1:c.1993C>T
  • NM_001408446.1:c.1993C>T
  • NM_001408447.1:c.1993C>T
  • NM_001408448.1:c.1993C>T
  • NM_001408450.1:c.1993C>T
  • NM_001408451.1:c.1987C>T
  • NM_001408452.1:c.1981C>T
  • NM_001408453.1:c.1981C>T
  • NM_001408454.1:c.1981C>T
  • NM_001408455.1:c.1981C>T
  • NM_001408456.1:c.1981C>T
  • NM_001408457.1:c.1981C>T
  • NM_001408458.1:c.1978C>T
  • NM_001408459.1:c.1978C>T
  • NM_001408460.1:c.1978C>T
  • NM_001408461.1:c.1978C>T
  • NM_001408462.1:c.1978C>T
  • NM_001408463.1:c.1978C>T
  • NM_001408464.1:c.1978C>T
  • NM_001408465.1:c.1978C>T
  • NM_001408466.1:c.1978C>T
  • NM_001408467.1:c.1978C>T
  • NM_001408468.1:c.1975C>T
  • NM_001408469.1:c.1975C>T
  • NM_001408470.1:c.1975C>T
  • NM_001408472.1:c.2045C>T
  • NM_001408473.1:c.2042C>T
  • NM_001408474.1:c.1921C>T
  • NM_001408475.1:c.1918C>T
  • NM_001408476.1:c.1918C>T
  • NM_001408478.1:c.1912C>T
  • NM_001408479.1:c.1912C>T
  • NM_001408480.1:c.1912C>T
  • NM_001408481.1:c.1909C>T
  • NM_001408482.1:c.1909C>T
  • NM_001408483.1:c.1909C>T
  • NM_001408484.1:c.1909C>T
  • NM_001408485.1:c.1909C>T
  • NM_001408489.1:c.1909C>T
  • NM_001408490.1:c.1909C>T
  • NM_001408491.1:c.1909C>T
  • NM_001408492.1:c.1906C>T
  • NM_001408493.1:c.1906C>T
  • NM_001408494.1:c.1882C>T
  • NM_001408495.1:c.1876C>T
  • NM_001408496.1:c.1858C>T
  • NM_001408497.1:c.1858C>T
  • NM_001408498.1:c.1858C>T
  • NM_001408499.1:c.1858C>T
  • NM_001408500.1:c.1858C>T
  • NM_001408501.1:c.1858C>T
  • NM_001408502.1:c.1855C>T
  • NM_001408503.1:c.1855C>T
  • NM_001408504.1:c.1855C>T
  • NM_001408505.1:c.1852C>T
  • NM_001408506.1:c.1795C>T
  • NM_001408507.1:c.1792C>T
  • NM_001408508.1:c.1783C>T
  • NM_001408509.1:c.1780C>T
  • NM_001408510.1:c.1741C>T
  • NM_001408511.1:c.1738C>T
  • NM_001408512.1:c.1618C>T
  • NM_001408513.1:c.1591C>T
  • NM_001408514.1:c.1195C>T
  • NM_007294.4:c.5431C>TMANE SELECT
  • NM_007297.4:c.5290C>T
  • NM_007298.4:c.2119C>T
  • NM_007299.4:c.2045C>T
  • NM_007300.4:c.5494C>T
  • NM_007304.2:c.2119C>T
  • NP_001394500.1:p.Gln1740Ter
  • NP_001394510.1:p.Gln1833Ter
  • NP_001394511.1:p.Gln1833Ter
  • NP_001394512.1:p.Gln1832Ter
  • NP_001394514.1:p.Gln1832Ter
  • NP_001394516.1:p.Gln1832Ter
  • NP_001394519.1:p.Gln1831Ter
  • NP_001394520.1:p.Gln1831Ter
  • NP_001394522.1:p.Gln1811Ter
  • NP_001394523.1:p.Gln1811Ter
  • NP_001394525.1:p.Gln1811Ter
  • NP_001394526.1:p.Gln1811Ter
  • NP_001394527.1:p.Gln1811Ter
  • NP_001394531.1:p.Gln1811Ter
  • NP_001394532.1:p.Gln1811Ter
  • NP_001394534.1:p.Gln1811Ter
  • NP_001394539.1:p.Gln1810Ter
  • NP_001394540.1:p.Gln1810Ter
  • NP_001394541.1:p.Gln1810Ter
  • NP_001394542.1:p.Gln1810Ter
  • NP_001394543.1:p.Gln1810Ter
  • NP_001394544.1:p.Gln1810Ter
  • NP_001394545.1:p.Gln1810Ter
  • NP_001394546.1:p.Gln1810Ter
  • NP_001394547.1:p.Gln1810Ter
  • NP_001394548.1:p.Gln1810Ter
  • NP_001394549.1:p.Gln1810Ter
  • NP_001394550.1:p.Gln1810Ter
  • NP_001394551.1:p.Gln1810Ter
  • NP_001394552.1:p.Gln1810Ter
  • NP_001394553.1:p.Gln1810Ter
  • NP_001394554.1:p.Gln1810Ter
  • NP_001394555.1:p.Gln1810Ter
  • NP_001394556.1:p.Gln1809Ter
  • NP_001394557.1:p.Gln1809Ter
  • NP_001394558.1:p.Gln1809Ter
  • NP_001394559.1:p.Gln1809Ter
  • NP_001394560.1:p.Gln1809Ter
  • NP_001394561.1:p.Gln1809Ter
  • NP_001394562.1:p.Gln1809Ter
  • NP_001394563.1:p.Gln1809Ter
  • NP_001394564.1:p.Gln1809Ter
  • NP_001394565.1:p.Gln1809Ter
  • NP_001394566.1:p.Gln1809Ter
  • NP_001394567.1:p.Gln1809Ter
  • NP_001394568.1:p.Gln1809Ter
  • NP_001394569.1:p.Gln1809Ter
  • NP_001394570.1:p.Gln1809Ter
  • NP_001394571.1:p.Gln1809Ter
  • NP_001394573.1:p.Gln1808Ter
  • NP_001394574.1:p.Gln1808Ter
  • NP_001394575.1:p.Gln1807Ter
  • NP_001394576.1:p.Gln1806Ter
  • NP_001394577.1:p.Gln1792Ter
  • NP_001394578.1:p.Gln1791Ter
  • NP_001394581.1:p.Gln1785Ter
  • NP_001394582.1:p.Gln1785Ter
  • NP_001394583.1:p.Gln1785Ter
  • NP_001394584.1:p.Gln1785Ter
  • NP_001394585.1:p.Gln1784Ter
  • NP_001394586.1:p.Gln1784Ter
  • NP_001394587.1:p.Gln1784Ter
  • NP_001394588.1:p.Gln1783Ter
  • NP_001394589.1:p.Gln1783Ter
  • NP_001394590.1:p.Gln1783Ter
  • NP_001394591.1:p.Gln1783Ter
  • NP_001394592.1:p.Gln1783Ter
  • NP_001394593.1:p.Gln1770Ter
  • NP_001394594.1:p.Gln1770Ter
  • NP_001394595.1:p.Gln1770Ter
  • NP_001394596.1:p.Gln1770Ter
  • NP_001394597.1:p.Gln1770Ter
  • NP_001394598.1:p.Gln1770Ter
  • NP_001394599.1:p.Gln1769Ter
  • NP_001394600.1:p.Gln1769Ter
  • NP_001394601.1:p.Gln1769Ter
  • NP_001394602.1:p.Gln1769Ter
  • NP_001394603.1:p.Gln1769Ter
  • NP_001394604.1:p.Gln1769Ter
  • NP_001394605.1:p.Gln1769Ter
  • NP_001394606.1:p.Gln1769Ter
  • NP_001394607.1:p.Gln1769Ter
  • NP_001394608.1:p.Gln1769Ter
  • NP_001394609.1:p.Gln1769Ter
  • NP_001394610.1:p.Gln1768Ter
  • NP_001394611.1:p.Gln1768Ter
  • NP_001394612.1:p.Gln1768Ter
  • NP_001394613.1:p.Gln1768Ter
  • NP_001394614.1:p.Gln1768Ter
  • NP_001394615.1:p.Gln1768Ter
  • NP_001394616.1:p.Gln1768Ter
  • NP_001394617.1:p.Gln1768Ter
  • NP_001394618.1:p.Gln1768Ter
  • NP_001394619.1:p.Gln1767Ter
  • NP_001394620.1:p.Gln1767Ter
  • NP_001394621.1:p.Gln1764Ter
  • NP_001394623.1:p.Gln1764Ter
  • NP_001394624.1:p.Gln1764Ter
  • NP_001394625.1:p.Gln1764Ter
  • NP_001394626.1:p.Gln1764Ter
  • NP_001394627.1:p.Gln1764Ter
  • NP_001394653.1:p.Gln1764Ter
  • NP_001394654.1:p.Gln1764Ter
  • NP_001394655.1:p.Gln1764Ter
  • NP_001394656.1:p.Gln1764Ter
  • NP_001394657.1:p.Gln1764Ter
  • NP_001394658.1:p.Gln1764Ter
  • NP_001394659.1:p.Gln1764Ter
  • NP_001394660.1:p.Gln1764Ter
  • NP_001394661.1:p.Gln1763Ter
  • NP_001394662.1:p.Gln1763Ter
  • NP_001394663.1:p.Gln1763Ter
  • NP_001394664.1:p.Gln1763Ter
  • NP_001394665.1:p.Gln1763Ter
  • NP_001394666.1:p.Gln1763Ter
  • NP_001394667.1:p.Gln1763Ter
  • NP_001394668.1:p.Gln1763Ter
  • NP_001394669.1:p.Gln1763Ter
  • NP_001394670.1:p.Gln1763Ter
  • NP_001394671.1:p.Gln1763Ter
  • NP_001394672.1:p.Gln1763Ter
  • NP_001394673.1:p.Gln1763Ter
  • NP_001394674.1:p.Gln1763Ter
  • NP_001394675.1:p.Gln1763Ter
  • NP_001394676.1:p.Gln1763Ter
  • NP_001394677.1:p.Gln1763Ter
  • NP_001394678.1:p.Gln1763Ter
  • NP_001394679.1:p.Gln1763Ter
  • NP_001394680.1:p.Gln1763Ter
  • NP_001394681.1:p.Gln1763Ter
  • NP_001394767.1:p.Gln1762Ter
  • NP_001394768.1:p.Gln1762Ter
  • NP_001394770.1:p.Gln1762Ter
  • NP_001394771.1:p.Gln1762Ter
  • NP_001394772.1:p.Gln1762Ter
  • NP_001394773.1:p.Gln1762Ter
  • NP_001394774.1:p.Gln1762Ter
  • NP_001394775.1:p.Gln1762Ter
  • NP_001394776.1:p.Gln1762Ter
  • NP_001394777.1:p.Gln1762Ter
  • NP_001394778.1:p.Gln1762Ter
  • NP_001394779.1:p.Gln1762Ter
  • NP_001394780.1:p.Gln1762Ter
  • NP_001394781.1:p.Gln1762Ter
  • NP_001394782.1:p.Gln1762Ter
  • NP_001394783.1:p.Ala1786Val
  • NP_001394787.1:p.Ala1785Val
  • NP_001394788.1:p.Ala1785Val
  • NP_001394789.1:p.Ala1785Val
  • NP_001394790.1:p.Ala1784Val
  • NP_001394791.1:p.Gln1744Ter
  • NP_001394792.1:p.Gln1743Ter
  • NP_001394803.1:p.Gln1742Ter
  • NP_001394804.1:p.Gln1742Ter
  • NP_001394808.1:p.Gln1741Ter
  • NP_001394810.1:p.Gln1741Ter
  • NP_001394811.1:p.Gln1741Ter
  • NP_001394813.1:p.Gln1741Ter
  • NP_001394814.1:p.Gln1741Ter
  • NP_001394815.1:p.Gln1741Ter
  • NP_001394816.1:p.Gln1741Ter
  • NP_001394818.1:p.Gln1741Ter
  • NP_001394823.1:p.Gln1740Ter
  • NP_001394824.1:p.Gln1740Ter
  • NP_001394825.1:p.Gln1740Ter
  • NP_001394826.1:p.Gln1740Ter
  • NP_001394827.1:p.Gln1740Ter
  • NP_001394828.1:p.Gln1740Ter
  • NP_001394829.1:p.Gln1740Ter
  • NP_001394831.1:p.Gln1740Ter
  • NP_001394833.1:p.Gln1740Ter
  • NP_001394835.1:p.Gln1740Ter
  • NP_001394836.1:p.Gln1740Ter
  • NP_001394837.1:p.Gln1740Ter
  • NP_001394838.1:p.Gln1740Ter
  • NP_001394839.1:p.Gln1740Ter
  • NP_001394844.1:p.Gln1739Ter
  • NP_001394845.1:p.Gln1739Ter
  • NP_001394846.1:p.Gln1739Ter
  • NP_001394847.1:p.Gln1739Ter
  • NP_001394848.1:p.Gln1727Ter
  • NP_001394849.1:p.Gln1723Ter
  • NP_001394850.1:p.Gln1723Ter
  • NP_001394851.1:p.Gln1723Ter
  • NP_001394852.1:p.Gln1723Ter
  • NP_001394853.1:p.Gln1723Ter
  • NP_001394854.1:p.Gln1723Ter
  • NP_001394855.1:p.Gln1723Ter
  • NP_001394856.1:p.Gln1722Ter
  • NP_001394857.1:p.Gln1722Ter
  • NP_001394858.1:p.Gln1722Ter
  • NP_001394859.1:p.Gln1722Ter
  • NP_001394860.1:p.Gln1722Ter
  • NP_001394861.1:p.Gln1722Ter
  • NP_001394862.1:p.Gln1722Ter
  • NP_001394863.1:p.Gln1721Ter
  • NP_001394864.1:p.Gln1721Ter
  • NP_001394865.1:p.Gln1721Ter
  • NP_001394866.1:p.Ala1745Val
  • NP_001394867.1:p.Ala1745Val
  • NP_001394868.1:p.Ala1744Val
  • NP_001394869.1:p.Ala1744Val
  • NP_001394870.1:p.Ala1743Val
  • NP_001394871.1:p.Ala1739Val
  • NP_001394872.1:p.Ala1738Val
  • NP_001394873.1:p.Ala1738Val
  • NP_001394874.1:p.Ala1738Val
  • NP_001394875.1:p.Gln1700Ter
  • NP_001394876.1:p.Gln1700Ter
  • NP_001394877.1:p.Gln1700Ter
  • NP_001394878.1:p.Gln1700Ter
  • NP_001394879.1:p.Gln1699Ter
  • NP_001394880.1:p.Gln1699Ter
  • NP_001394881.1:p.Gln1699Ter
  • NP_001394882.1:p.Gln1699Ter
  • NP_001394883.1:p.Gln1699Ter
  • NP_001394884.1:p.Gln1699Ter
  • NP_001394885.1:p.Gln1698Ter
  • NP_001394886.1:p.Gln1698Ter
  • NP_001394887.1:p.Gln1698Ter
  • NP_001394888.1:p.Gln1684Ter
  • NP_001394889.1:p.Gln1683Ter
  • NP_001394891.1:p.Gln1683Ter
  • NP_001394892.1:p.Gln1682Ter
  • NP_001394893.1:p.Gln1657Ter
  • NP_001394894.1:p.Gln1642Ter
  • NP_001394895.1:p.Gln1515Ter
  • NP_001394896.1:p.Gln1514Ter
  • NP_001394897.1:p.Gln943Ter
  • NP_001394898.1:p.Gln942Ter
  • NP_001394899.1:p.Gln730Ter
  • NP_001394900.1:p.Gln730Ter
  • NP_001394901.1:p.Gln729Ter
  • NP_001394902.1:p.Gln708Ter
  • NP_001394903.1:p.Gln708Ter
  • NP_001394904.1:p.Gln708Ter
  • NP_001394905.1:p.Gln708Ter
  • NP_001394906.1:p.Gln708Ter
  • NP_001394907.1:p.Gln708Ter
  • NP_001394908.1:p.Gln707Ter
  • NP_001394909.1:p.Gln707Ter
  • NP_001394910.1:p.Gln707Ter
  • NP_001394911.1:p.Gln707Ter
  • NP_001394912.1:p.Gln707Ter
  • NP_001394913.1:p.Gln707Ter
  • NP_001394914.1:p.Gln707Ter
  • NP_001394915.1:p.Gln707Ter
  • NP_001394919.1:p.Gln707Ter
  • NP_001394920.1:p.Gln707Ter
  • NP_001394921.1:p.Gln707Ter
  • NP_001394922.1:p.Gln707Ter
  • NP_001395321.1:p.Gln706Ter
  • NP_001395325.1:p.Gln706Ter
  • NP_001395326.1:p.Gln706Ter
  • NP_001395327.1:p.Gln706Ter
  • NP_001395328.1:p.Gln706Ter
  • NP_001395329.1:p.Gln706Ter
  • NP_001395330.1:p.Gln706Ter
  • NP_001395331.1:p.Gln706Ter
  • NP_001395332.1:p.Gln706Ter
  • NP_001395333.1:p.Gln706Ter
  • NP_001395335.1:p.Gln705Ter
  • NP_001395336.1:p.Gln705Ter
  • NP_001395337.1:p.Gln705Ter
  • NP_001395338.1:p.Gln704Ter
  • NP_001395339.1:p.Gln683Ter
  • NP_001395340.1:p.Gln682Ter
  • NP_001395341.1:p.Gln681Ter
  • NP_001395342.1:p.Gln681Ter
  • NP_001395343.1:p.Gln681Ter
  • NP_001395344.1:p.Gln681Ter
  • NP_001395345.1:p.Gln681Ter
  • NP_001395347.1:p.Gln669Ter
  • NP_001395348.1:p.Gln669Ter
  • NP_001395349.1:p.Gln669Ter
  • NP_001395350.1:p.Gln668Ter
  • NP_001395351.1:p.Gln668Ter
  • NP_001395352.1:p.Gln668Ter
  • NP_001395353.1:p.Gln668Ter
  • NP_001395354.1:p.Gln667Ter
  • NP_001395355.1:p.Gln667Ter
  • NP_001395356.1:p.Gln667Ter
  • NP_001395357.1:p.Gln667Ter
  • NP_001395358.1:p.Gln667Ter
  • NP_001395359.1:p.Gln667Ter
  • NP_001395360.1:p.Gln667Ter
  • NP_001395361.1:p.Gln666Ter
  • NP_001395362.1:p.Gln666Ter
  • NP_001395363.1:p.Gln666Ter
  • NP_001395364.1:p.Gln666Ter
  • NP_001395365.1:p.Gln666Ter
  • NP_001395366.1:p.Gln666Ter
  • NP_001395367.1:p.Gln666Ter
  • NP_001395368.1:p.Gln666Ter
  • NP_001395369.1:p.Gln666Ter
  • NP_001395370.1:p.Gln666Ter
  • NP_001395371.1:p.Gln666Ter
  • NP_001395372.1:p.Gln666Ter
  • NP_001395373.1:p.Gln666Ter
  • NP_001395374.1:p.Gln665Ter
  • NP_001395375.1:p.Gln665Ter
  • NP_001395376.1:p.Gln665Ter
  • NP_001395377.1:p.Gln665Ter
  • NP_001395379.1:p.Gln665Ter
  • NP_001395380.1:p.Gln663Ter
  • NP_001395381.1:p.Gln661Ter
  • NP_001395382.1:p.Gln661Ter
  • NP_001395383.1:p.Gln661Ter
  • NP_001395384.1:p.Gln661Ter
  • NP_001395385.1:p.Gln661Ter
  • NP_001395386.1:p.Gln661Ter
  • NP_001395387.1:p.Gln660Ter
  • NP_001395388.1:p.Gln660Ter
  • NP_001395389.1:p.Gln660Ter
  • NP_001395390.1:p.Gln660Ter
  • NP_001395391.1:p.Gln660Ter
  • NP_001395392.1:p.Gln660Ter
  • NP_001395393.1:p.Gln660Ter
  • NP_001395394.1:p.Gln660Ter
  • NP_001395395.1:p.Gln660Ter
  • NP_001395396.1:p.Gln660Ter
  • NP_001395397.1:p.Gln659Ter
  • NP_001395398.1:p.Gln659Ter
  • NP_001395399.1:p.Gln659Ter
  • NP_001395401.1:p.Ala682Val
  • NP_001395402.1:p.Ala681Val
  • NP_001395403.1:p.Gln641Ter
  • NP_001395404.1:p.Gln640Ter
  • NP_001395405.1:p.Gln640Ter
  • NP_001395407.1:p.Gln638Ter
  • NP_001395408.1:p.Gln638Ter
  • NP_001395409.1:p.Gln638Ter
  • NP_001395410.1:p.Gln637Ter
  • NP_001395411.1:p.Gln637Ter
  • NP_001395412.1:p.Gln637Ter
  • NP_001395413.1:p.Gln637Ter
  • NP_001395414.1:p.Gln637Ter
  • NP_001395418.1:p.Gln637Ter
  • NP_001395419.1:p.Gln637Ter
  • NP_001395420.1:p.Gln637Ter
  • NP_001395421.1:p.Gln636Ter
  • NP_001395422.1:p.Gln636Ter
  • NP_001395423.1:p.Gln628Ter
  • NP_001395424.1:p.Gln626Ter
  • NP_001395425.1:p.Gln620Ter
  • NP_001395426.1:p.Gln620Ter
  • NP_001395427.1:p.Gln620Ter
  • NP_001395428.1:p.Gln620Ter
  • NP_001395429.1:p.Gln620Ter
  • NP_001395430.1:p.Gln620Ter
  • NP_001395431.1:p.Gln619Ter
  • NP_001395432.1:p.Gln619Ter
  • NP_001395433.1:p.Gln619Ter
  • NP_001395434.1:p.Gln618Ter
  • NP_001395435.1:p.Gln599Ter
  • NP_001395436.1:p.Gln598Ter
  • NP_001395437.1:p.Gln595Ter
  • NP_001395438.1:p.Gln594Ter
  • NP_001395439.1:p.Gln581Ter
  • NP_001395440.1:p.Gln580Ter
  • NP_001395441.1:p.Gln540Ter
  • NP_001395442.1:p.Gln531Ter
  • NP_001395443.1:p.Gln399Ter
  • NP_009225.1:p.Gln1811Ter
  • NP_009225.1:p.Gln1811Ter
  • NP_009228.2:p.Gln1764Ter
  • NP_009229.2:p.Gln707Ter
  • NP_009229.2:p.Gln707Ter
  • NP_009230.2:p.Ala682Val
  • NP_009231.2:p.Gln1832Ter
  • NP_009235.2:p.Gln707Ter
  • LRG_292t1:c.5431C>T
  • LRG_292:g.170305C>T
  • LRG_292p1:p.Gln1811Ter
  • NC_000017.10:g.41199696G>A
  • NM_007294.3:c.5431C>T
  • NM_007298.3:c.2119C>T
  • NM_007300.3:c.5494C>T
  • NR_027676.2:n.5608C>T
  • p.Gln1811*
  • p.Gln1811X
Protein change:
A1738V
Links:
dbSNP: rs397509283
NCBI 1000 Genomes Browser:
rs397509283
Molecular consequence:
  • NM_001407854.1:c.5357C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.5354C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.5354C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.5354C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.5351C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.5234C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.5234C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.5231C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.5231C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.5228C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.5216C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.5213C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.5213C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.5213C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408472.1:c.2045C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408473.1:c.2042C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007299.4:c.2045C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.5608C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001407571.1:c.5218C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407581.1:c.5497C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407582.1:c.5497C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407583.1:c.5494C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407585.1:c.5494C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407587.1:c.5494C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407590.1:c.5491C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407591.1:c.5491C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407593.1:c.5431C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407594.1:c.5431C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407596.1:c.5431C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407597.1:c.5431C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407598.1:c.5431C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407602.1:c.5431C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407603.1:c.5431C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407605.1:c.5431C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407610.1:c.5428C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407611.1:c.5428C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407612.1:c.5428C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407613.1:c.5428C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407614.1:c.5428C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407615.1:c.5428C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407616.1:c.5428C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407617.1:c.5428C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407618.1:c.5428C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407619.1:c.5428C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407620.1:c.5428C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407621.1:c.5428C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407622.1:c.5428C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407623.1:c.5428C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407624.1:c.5428C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407625.1:c.5428C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407626.1:c.5428C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407627.1:c.5425C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407628.1:c.5425C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407629.1:c.5425C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407630.1:c.5425C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407631.1:c.5425C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407632.1:c.5425C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407633.1:c.5425C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407634.1:c.5425C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407635.1:c.5425C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407636.1:c.5425C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407637.1:c.5425C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407638.1:c.5425C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407639.1:c.5425C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407640.1:c.5425C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407641.1:c.5425C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407642.1:c.5425C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407644.1:c.5422C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407645.1:c.5422C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407646.1:c.5419C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407647.1:c.5416C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407648.1:c.5374C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407649.1:c.5371C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407652.1:c.5353C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407653.1:c.5353C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407654.1:c.5353C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407655.1:c.5353C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407656.1:c.5350C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407657.1:c.5350C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407658.1:c.5350C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407659.1:c.5347C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407660.1:c.5347C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407661.1:c.5347C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407662.1:c.5347C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407663.1:c.5347C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407664.1:c.5308C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407665.1:c.5308C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407666.1:c.5308C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407667.1:c.5308C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407668.1:c.5308C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407669.1:c.5308C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407670.1:c.5305C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407671.1:c.5305C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407672.1:c.5305C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407673.1:c.5305C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407674.1:c.5305C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407675.1:c.5305C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407676.1:c.5305C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407677.1:c.5305C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407678.1:c.5305C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407679.1:c.5305C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407680.1:c.5305C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407681.1:c.5302C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407682.1:c.5302C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407683.1:c.5302C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407684.1:c.5302C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407685.1:c.5302C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407686.1:c.5302C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407687.1:c.5302C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407688.1:c.5302C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407689.1:c.5302C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407690.1:c.5299C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407691.1:c.5299C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407692.1:c.5290C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407694.1:c.5290C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407695.1:c.5290C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407696.1:c.5290C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407697.1:c.5290C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407698.1:c.5290C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407724.1:c.5290C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407725.1:c.5290C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407726.1:c.5290C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407727.1:c.5290C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407728.1:c.5290C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407729.1:c.5290C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407730.1:c.5290C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407731.1:c.5290C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407732.1:c.5287C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407733.1:c.5287C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407734.1:c.5287C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407735.1:c.5287C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407736.1:c.5287C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407737.1:c.5287C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407738.1:c.5287C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407739.1:c.5287C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407740.1:c.5287C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407741.1:c.5287C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407742.1:c.5287C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407743.1:c.5287C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407744.1:c.5287C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407745.1:c.5287C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407746.1:c.5287C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407747.1:c.5287C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407748.1:c.5287C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407749.1:c.5287C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407750.1:c.5287C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407751.1:c.5287C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407752.1:c.5287C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407838.1:c.5284C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407839.1:c.5284C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407841.1:c.5284C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407842.1:c.5284C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407843.1:c.5284C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407844.1:c.5284C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407845.1:c.5284C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407846.1:c.5284C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407847.1:c.5284C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407848.1:c.5284C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407849.1:c.5284C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407850.1:c.5284C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407851.1:c.5284C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407852.1:c.5284C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407853.1:c.5284C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407862.1:c.5230C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407863.1:c.5227C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407874.1:c.5224C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407875.1:c.5224C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407879.1:c.5221C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407881.1:c.5221C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407882.1:c.5221C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407884.1:c.5221C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407885.1:c.5221C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407886.1:c.5221C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407887.1:c.5221C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407889.1:c.5221C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407894.1:c.5218C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407895.1:c.5218C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407896.1:c.5218C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407897.1:c.5218C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407898.1:c.5218C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407899.1:c.5218C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407900.1:c.5218C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407902.1:c.5218C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407904.1:c.5218C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407906.1:c.5218C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407907.1:c.5218C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407908.1:c.5218C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407909.1:c.5218C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407910.1:c.5218C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407915.1:c.5215C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407916.1:c.5215C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407917.1:c.5215C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407918.1:c.5215C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407919.1:c.5179C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407920.1:c.5167C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407921.1:c.5167C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407922.1:c.5167C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407923.1:c.5167C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407924.1:c.5167C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407925.1:c.5167C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407926.1:c.5167C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407927.1:c.5164C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407928.1:c.5164C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407929.1:c.5164C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407930.1:c.5164C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407931.1:c.5164C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407932.1:c.5164C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407933.1:c.5164C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407934.1:c.5161C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407935.1:c.5161C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407936.1:c.5161C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407946.1:c.5098C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407947.1:c.5098C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407948.1:c.5098C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407949.1:c.5098C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407950.1:c.5095C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407951.1:c.5095C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407952.1:c.5095C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407953.1:c.5095C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407954.1:c.5095C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407955.1:c.5095C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407956.1:c.5092C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407957.1:c.5092C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407958.1:c.5092C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407959.1:c.5050C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407960.1:c.5047C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407962.1:c.5047C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407963.1:c.5044C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407964.1:c.4969C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407965.1:c.4924C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407966.1:c.4543C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407967.1:c.4540C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407968.1:c.2827C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407969.1:c.2824C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407970.1:c.2188C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407971.1:c.2188C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407972.1:c.2185C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407973.1:c.2122C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407974.1:c.2122C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407975.1:c.2122C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407976.1:c.2122C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407977.1:c.2122C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407978.1:c.2122C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407979.1:c.2119C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407980.1:c.2119C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407981.1:c.2119C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407982.1:c.2119C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407983.1:c.2119C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407984.1:c.2119C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407985.1:c.2119C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407986.1:c.2119C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407990.1:c.2119C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407991.1:c.2119C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407992.1:c.2119C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407993.1:c.2119C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408392.1:c.2116C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408396.1:c.2116C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408397.1:c.2116C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408398.1:c.2116C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408399.1:c.2116C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408400.1:c.2116C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408401.1:c.2116C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408402.1:c.2116C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408403.1:c.2116C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408404.1:c.2116C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408406.1:c.2113C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408407.1:c.2113C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408408.1:c.2113C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408409.1:c.2110C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408410.1:c.2047C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408411.1:c.2044C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408412.1:c.2041C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408413.1:c.2041C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408414.1:c.2041C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408415.1:c.2041C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408416.1:c.2041C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408418.1:c.2005C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408419.1:c.2005C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408420.1:c.2005C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408421.1:c.2002C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408422.1:c.2002C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408423.1:c.2002C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408424.1:c.2002C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408425.1:c.1999C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408426.1:c.1999C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408427.1:c.1999C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408428.1:c.1999C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408429.1:c.1999C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408430.1:c.1999C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408431.1:c.1999C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408432.1:c.1996C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408433.1:c.1996C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408434.1:c.1996C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408435.1:c.1996C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408436.1:c.1996C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408437.1:c.1996C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408438.1:c.1996C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408439.1:c.1996C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408440.1:c.1996C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408441.1:c.1996C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408442.1:c.1996C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408443.1:c.1996C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408444.1:c.1996C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408445.1:c.1993C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408446.1:c.1993C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408447.1:c.1993C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408448.1:c.1993C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408450.1:c.1993C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408451.1:c.1987C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408452.1:c.1981C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408453.1:c.1981C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408454.1:c.1981C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408455.1:c.1981C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408456.1:c.1981C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408457.1:c.1981C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408458.1:c.1978C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408459.1:c.1978C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408460.1:c.1978C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408461.1:c.1978C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408462.1:c.1978C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408463.1:c.1978C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408464.1:c.1978C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408465.1:c.1978C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408466.1:c.1978C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408467.1:c.1978C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408468.1:c.1975C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408469.1:c.1975C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408470.1:c.1975C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408474.1:c.1921C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408475.1:c.1918C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408476.1:c.1918C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408478.1:c.1912C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408479.1:c.1912C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408480.1:c.1912C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408481.1:c.1909C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408482.1:c.1909C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408483.1:c.1909C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408484.1:c.1909C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408485.1:c.1909C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408489.1:c.1909C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408490.1:c.1909C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408491.1:c.1909C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408492.1:c.1906C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408493.1:c.1906C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408494.1:c.1882C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408495.1:c.1876C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408496.1:c.1858C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408497.1:c.1858C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408498.1:c.1858C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408499.1:c.1858C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408500.1:c.1858C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408501.1:c.1858C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408502.1:c.1855C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408503.1:c.1855C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408504.1:c.1855C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408505.1:c.1852C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408506.1:c.1795C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408507.1:c.1792C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408508.1:c.1783C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408509.1:c.1780C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408510.1:c.1741C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408511.1:c.1738C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408512.1:c.1618C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408513.1:c.1591C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408514.1:c.1195C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007294.4:c.5431C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007297.4:c.5290C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007298.4:c.2119C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007300.4:c.5494C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007304.2:c.2119C>T - nonsense - [Sequence Ontology: SO:0001587]
Functional consequence:
function_uncertain_variant [Sequence Ontology: SO:0002220] - Comment(s)

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001186055Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Nov 2, 2022) 		germlineclinical testing

PubMed (8)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Denaturing high-performance liquid chromatography detects reliably BRCA1 and BRCA2 mutations.

Wagner T, Stoppa-Lyonnet D, Fleischmann E, Muhr D, Pagès S, Sandberg T, Caux V, Moeslinger R, Langbauer G, Borg A, Oefner P.

Genomics. 1999 Dec 15;62(3):369-76.

PubMed [citation]
PMID:
10644434

The fate of BRCA1-related germline mutations in triple-negative breast tumors.

Kotoula V, Fostira F, Papadopoulou K, Apostolou P, Tsolaki E, Lazaridis G, Manoussou K, Zagouri F, Pectasides D, Vlachos I, Tikas I, Lakis S, Konstantopoulou I, Pentheroudakis G, Gogas H, Papakostas P, Christodoulou C, Bafaloukos D, Razis E, Karavasilis V, Bamias C, Yannoukakos D, et al.

Am J Cancer Res. 2017;7(1):98-114.

PubMed [citation]
PMID:
28123851
PMCID:
PMC5250684
See all PubMed Citations (8)

Details of each submission

From Ambry Genetics, SCV001186055.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (8)

Description

The p.Q1811* pathogenic mutation (also known as c.5431C>T), located in coding exon 21 of the BRCA1 gene, results from a C to T substitution at nucleotide position 5431. This changes the amino acid from a glutamine to a stop codon within coding exon 21. This mutation has been reported in multiple individuals with hereditary breast and/or ovarian cancer (Wagner T et al. Genomics, 1999 Dec;62:369-76; Findlay GM et al. Nature, 2018 10;562:217-222; Li JY et al. Int. J. Cancer, 2019 01;144:281-289; Rebbeck TR et al. Hum. Mutat., 2018 05;39:593-620; Wei H et al. Oncol Lett, 2018 Jun;15:9420-9428; Kotoula V et al. Am J Cancer Res, 2017 Jan;7:98-114; Alhuqail AJ et al. Breast Cancer Res. Treat., 2018 Apr;168:695-702; Laitman Y et al. Hum. Mutat., 2019 Jun). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: Nov 3, 2024