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NM_007294.4(BRCA1):c.2248_2252del (p.Leu750fs) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Dec 15, 2017
Review status:
3 stars out of maximum of 4 stars
reviewed by expert panel
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:
RCV000210960.11

Allele description [Variation Report for NM_007294.4(BRCA1):c.2248_2252del (p.Leu750fs)]

NM_007294.4(BRCA1):c.2248_2252del (p.Leu750fs)

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.2248_2252del (p.Leu750fs)
HGVS:
  • NC_000017.11:g.43093281_43093285del
  • NG_005905.2:g.124701_124705del
  • NM_001407571.1:c.2035_2039del
  • NM_001407581.1:c.2248_2252del
  • NM_001407582.1:c.2248_2252del
  • NM_001407583.1:c.2248_2252del
  • NM_001407585.1:c.2248_2252del
  • NM_001407587.1:c.2245_2249del
  • NM_001407590.1:c.2245_2249del
  • NM_001407591.1:c.2245_2249del
  • NM_001407593.1:c.2248_2252del
  • NM_001407594.1:c.2248_2252del
  • NM_001407596.1:c.2248_2252del
  • NM_001407597.1:c.2248_2252del
  • NM_001407598.1:c.2248_2252del
  • NM_001407602.1:c.2248_2252del
  • NM_001407603.1:c.2248_2252del
  • NM_001407605.1:c.2248_2252del
  • NM_001407610.1:c.2245_2249del
  • NM_001407611.1:c.2245_2249del
  • NM_001407612.1:c.2245_2249del
  • NM_001407613.1:c.2245_2249del
  • NM_001407614.1:c.2245_2249del
  • NM_001407615.1:c.2245_2249del
  • NM_001407616.1:c.2248_2252del
  • NM_001407617.1:c.2248_2252del
  • NM_001407618.1:c.2248_2252del
  • NM_001407619.1:c.2248_2252del
  • NM_001407620.1:c.2248_2252del
  • NM_001407621.1:c.2248_2252del
  • NM_001407622.1:c.2248_2252del
  • NM_001407623.1:c.2248_2252del
  • NM_001407624.1:c.2248_2252del
  • NM_001407625.1:c.2248_2252del
  • NM_001407626.1:c.2248_2252del
  • NM_001407627.1:c.2245_2249del
  • NM_001407628.1:c.2245_2249del
  • NM_001407629.1:c.2245_2249del
  • NM_001407630.1:c.2245_2249del
  • NM_001407631.1:c.2245_2249del
  • NM_001407632.1:c.2245_2249del
  • NM_001407633.1:c.2245_2249del
  • NM_001407634.1:c.2245_2249del
  • NM_001407635.1:c.2245_2249del
  • NM_001407636.1:c.2245_2249del
  • NM_001407637.1:c.2245_2249del
  • NM_001407638.1:c.2245_2249del
  • NM_001407639.1:c.2248_2252del
  • NM_001407640.1:c.2248_2252del
  • NM_001407641.1:c.2248_2252del
  • NM_001407642.1:c.2248_2252del
  • NM_001407644.1:c.2245_2249del
  • NM_001407645.1:c.2245_2249del
  • NM_001407646.1:c.2239_2243del
  • NM_001407647.1:c.2239_2243del
  • NM_001407648.1:c.2125_2129del
  • NM_001407649.1:c.2122_2126del
  • NM_001407652.1:c.2248_2252del
  • NM_001407653.1:c.2170_2174del
  • NM_001407654.1:c.2170_2174del
  • NM_001407655.1:c.2170_2174del
  • NM_001407656.1:c.2170_2174del
  • NM_001407657.1:c.2170_2174del
  • NM_001407658.1:c.2170_2174del
  • NM_001407659.1:c.2167_2171del
  • NM_001407660.1:c.2167_2171del
  • NM_001407661.1:c.2167_2171del
  • NM_001407662.1:c.2167_2171del
  • NM_001407663.1:c.2170_2174del
  • NM_001407664.1:c.2125_2129del
  • NM_001407665.1:c.2125_2129del
  • NM_001407666.1:c.2125_2129del
  • NM_001407667.1:c.2125_2129del
  • NM_001407668.1:c.2125_2129del
  • NM_001407669.1:c.2125_2129del
  • NM_001407670.1:c.2122_2126del
  • NM_001407671.1:c.2122_2126del
  • NM_001407672.1:c.2122_2126del
  • NM_001407673.1:c.2122_2126del
  • NM_001407674.1:c.2125_2129del
  • NM_001407675.1:c.2125_2129del
  • NM_001407676.1:c.2125_2129del
  • NM_001407677.1:c.2125_2129del
  • NM_001407678.1:c.2125_2129del
  • NM_001407679.1:c.2125_2129del
  • NM_001407680.1:c.2125_2129del
  • NM_001407681.1:c.2125_2129del
  • NM_001407682.1:c.2125_2129del
  • NM_001407683.1:c.2125_2129del
  • NM_001407684.1:c.2248_2252del
  • NM_001407685.1:c.2122_2126del
  • NM_001407686.1:c.2122_2126del
  • NM_001407687.1:c.2122_2126del
  • NM_001407688.1:c.2122_2126del
  • NM_001407689.1:c.2122_2126del
  • NM_001407690.1:c.2122_2126del
  • NM_001407691.1:c.2122_2126del
  • NM_001407692.1:c.2107_2111del
  • NM_001407694.1:c.2107_2111del
  • NM_001407695.1:c.2107_2111del
  • NM_001407696.1:c.2107_2111del
  • NM_001407697.1:c.2107_2111del
  • NM_001407698.1:c.2107_2111del
  • NM_001407724.1:c.2107_2111del
  • NM_001407725.1:c.2107_2111del
  • NM_001407726.1:c.2107_2111del
  • NM_001407727.1:c.2107_2111del
  • NM_001407728.1:c.2107_2111del
  • NM_001407729.1:c.2107_2111del
  • NM_001407730.1:c.2107_2111del
  • NM_001407731.1:c.2107_2111del
  • NM_001407732.1:c.2107_2111del
  • NM_001407733.1:c.2107_2111del
  • NM_001407734.1:c.2107_2111del
  • NM_001407735.1:c.2107_2111del
  • NM_001407736.1:c.2107_2111del
  • NM_001407737.1:c.2107_2111del
  • NM_001407738.1:c.2107_2111del
  • NM_001407739.1:c.2107_2111del
  • NM_001407740.1:c.2104_2108del
  • NM_001407741.1:c.2104_2108del
  • NM_001407742.1:c.2104_2108del
  • NM_001407743.1:c.2104_2108del
  • NM_001407744.1:c.2104_2108del
  • NM_001407745.1:c.2104_2108del
  • NM_001407746.1:c.2104_2108del
  • NM_001407747.1:c.2104_2108del
  • NM_001407748.1:c.2104_2108del
  • NM_001407749.1:c.2104_2108del
  • NM_001407750.1:c.2107_2111del
  • NM_001407751.1:c.2107_2111del
  • NM_001407752.1:c.2107_2111del
  • NM_001407838.1:c.2104_2108del
  • NM_001407839.1:c.2104_2108del
  • NM_001407841.1:c.2104_2108del
  • NM_001407842.1:c.2104_2108del
  • NM_001407843.1:c.2104_2108del
  • NM_001407844.1:c.2104_2108del
  • NM_001407845.1:c.2104_2108del
  • NM_001407846.1:c.2104_2108del
  • NM_001407847.1:c.2104_2108del
  • NM_001407848.1:c.2104_2108del
  • NM_001407849.1:c.2104_2108del
  • NM_001407850.1:c.2107_2111del
  • NM_001407851.1:c.2107_2111del
  • NM_001407852.1:c.2107_2111del
  • NM_001407853.1:c.2035_2039del
  • NM_001407854.1:c.2248_2252del
  • NM_001407858.1:c.2248_2252del
  • NM_001407859.1:c.2248_2252del
  • NM_001407860.1:c.2245_2249del
  • NM_001407861.1:c.2245_2249del
  • NM_001407862.1:c.2047_2051del
  • NM_001407863.1:c.2125_2129del
  • NM_001407874.1:c.2044_2048del
  • NM_001407875.1:c.2044_2048del
  • NM_001407879.1:c.2038_2042del
  • NM_001407881.1:c.2038_2042del
  • NM_001407882.1:c.2038_2042del
  • NM_001407884.1:c.2038_2042del
  • NM_001407885.1:c.2038_2042del
  • NM_001407886.1:c.2038_2042del
  • NM_001407887.1:c.2038_2042del
  • NM_001407889.1:c.2038_2042del
  • NM_001407894.1:c.2035_2039del
  • NM_001407895.1:c.2035_2039del
  • NM_001407896.1:c.2035_2039del
  • NM_001407897.1:c.2035_2039del
  • NM_001407898.1:c.2035_2039del
  • NM_001407899.1:c.2035_2039del
  • NM_001407900.1:c.2038_2042del
  • NM_001407902.1:c.2038_2042del
  • NM_001407904.1:c.2038_2042del
  • NM_001407906.1:c.2038_2042del
  • NM_001407907.1:c.2038_2042del
  • NM_001407908.1:c.2038_2042del
  • NM_001407909.1:c.2038_2042del
  • NM_001407910.1:c.2038_2042del
  • NM_001407915.1:c.2035_2039del
  • NM_001407916.1:c.2035_2039del
  • NM_001407917.1:c.2035_2039del
  • NM_001407918.1:c.2035_2039del
  • NM_001407919.1:c.2125_2129del
  • NM_001407920.1:c.1984_1988del
  • NM_001407921.1:c.1984_1988del
  • NM_001407922.1:c.1984_1988del
  • NM_001407923.1:c.1984_1988del
  • NM_001407924.1:c.1984_1988del
  • NM_001407925.1:c.1984_1988del
  • NM_001407926.1:c.1984_1988del
  • NM_001407927.1:c.1984_1988del
  • NM_001407928.1:c.1984_1988del
  • NM_001407929.1:c.1984_1988del
  • NM_001407930.1:c.1981_1985del
  • NM_001407931.1:c.1981_1985del
  • NM_001407932.1:c.1981_1985del
  • NM_001407933.1:c.1984_1988del
  • NM_001407934.1:c.1981_1985del
  • NM_001407935.1:c.1984_1988del
  • NM_001407936.1:c.1981_1985del
  • NM_001407937.1:c.2125_2129del
  • NM_001407938.1:c.2125_2129del
  • NM_001407939.1:c.2125_2129del
  • NM_001407940.1:c.2122_2126del
  • NM_001407941.1:c.2122_2126del
  • NM_001407942.1:c.2107_2111del
  • NM_001407943.1:c.2104_2108del
  • NM_001407944.1:c.2107_2111del
  • NM_001407945.1:c.2107_2111del
  • NM_001407946.1:c.1915_1919del
  • NM_001407947.1:c.1915_1919del
  • NM_001407948.1:c.1915_1919del
  • NM_001407949.1:c.1915_1919del
  • NM_001407950.1:c.1915_1919del
  • NM_001407951.1:c.1915_1919del
  • NM_001407952.1:c.1915_1919del
  • NM_001407953.1:c.1915_1919del
  • NM_001407954.1:c.1912_1916del
  • NM_001407955.1:c.1912_1916del
  • NM_001407956.1:c.1912_1916del
  • NM_001407957.1:c.1915_1919del
  • NM_001407958.1:c.1912_1916del
  • NM_001407959.1:c.1867_1871del
  • NM_001407960.1:c.1867_1871del
  • NM_001407962.1:c.1864_1868del
  • NM_001407963.1:c.1867_1871del
  • NM_001407964.1:c.2104_2108del
  • NM_001407965.1:c.1744_1748del
  • NM_001407966.1:c.1360_1364del
  • NM_001407967.1:c.1360_1364del
  • NM_001407968.1:c.788-1144_788-1140del
  • NM_001407969.1:c.788-1144_788-1140del
  • NM_001407970.1:c.787+1461_787+1465del
  • NM_001407971.1:c.787+1461_787+1465del
  • NM_001407972.1:c.784+1461_784+1465del
  • NM_001407973.1:c.787+1461_787+1465del
  • NM_001407974.1:c.787+1461_787+1465del
  • NM_001407975.1:c.787+1461_787+1465del
  • NM_001407976.1:c.787+1461_787+1465del
  • NM_001407977.1:c.787+1461_787+1465del
  • NM_001407978.1:c.787+1461_787+1465del
  • NM_001407979.1:c.787+1461_787+1465del
  • NM_001407980.1:c.787+1461_787+1465del
  • NM_001407981.1:c.787+1461_787+1465del
  • NM_001407982.1:c.787+1461_787+1465del
  • NM_001407983.1:c.787+1461_787+1465del
  • NM_001407984.1:c.784+1461_784+1465del
  • NM_001407985.1:c.784+1461_784+1465del
  • NM_001407986.1:c.784+1461_784+1465del
  • NM_001407990.1:c.787+1461_787+1465del
  • NM_001407991.1:c.784+1461_784+1465del
  • NM_001407992.1:c.784+1461_784+1465del
  • NM_001407993.1:c.787+1461_787+1465del
  • NM_001408392.1:c.784+1461_784+1465del
  • NM_001408396.1:c.784+1461_784+1465del
  • NM_001408397.1:c.784+1461_784+1465del
  • NM_001408398.1:c.784+1461_784+1465del
  • NM_001408399.1:c.784+1461_784+1465del
  • NM_001408400.1:c.784+1461_784+1465del
  • NM_001408401.1:c.784+1461_784+1465del
  • NM_001408402.1:c.784+1461_784+1465del
  • NM_001408403.1:c.787+1461_787+1465del
  • NM_001408404.1:c.787+1461_787+1465del
  • NM_001408406.1:c.790+1458_790+1462del
  • NM_001408407.1:c.784+1461_784+1465del
  • NM_001408408.1:c.778+1461_778+1465del
  • NM_001408409.1:c.709+1461_709+1465del
  • NM_001408410.1:c.646+1461_646+1465del
  • NM_001408411.1:c.709+1461_709+1465del
  • NM_001408412.1:c.709+1461_709+1465del
  • NM_001408413.1:c.706+1461_706+1465del
  • NM_001408414.1:c.709+1461_709+1465del
  • NM_001408415.1:c.709+1461_709+1465del
  • NM_001408416.1:c.706+1461_706+1465del
  • NM_001408418.1:c.671-2251_671-2247del
  • NM_001408419.1:c.671-2251_671-2247del
  • NM_001408420.1:c.671-2251_671-2247del
  • NM_001408421.1:c.668-2251_668-2247del
  • NM_001408422.1:c.671-2251_671-2247del
  • NM_001408423.1:c.671-2251_671-2247del
  • NM_001408424.1:c.668-2251_668-2247del
  • NM_001408425.1:c.664+1461_664+1465del
  • NM_001408426.1:c.664+1461_664+1465del
  • NM_001408427.1:c.664+1461_664+1465del
  • NM_001408428.1:c.664+1461_664+1465del
  • NM_001408429.1:c.664+1461_664+1465del
  • NM_001408430.1:c.664+1461_664+1465del
  • NM_001408431.1:c.668-2251_668-2247del
  • NM_001408432.1:c.661+1461_661+1465del
  • NM_001408433.1:c.661+1461_661+1465del
  • NM_001408434.1:c.661+1461_661+1465del
  • NM_001408435.1:c.661+1461_661+1465del
  • NM_001408436.1:c.664+1461_664+1465del
  • NM_001408437.1:c.664+1461_664+1465del
  • NM_001408438.1:c.664+1461_664+1465del
  • NM_001408439.1:c.664+1461_664+1465del
  • NM_001408440.1:c.664+1461_664+1465del
  • NM_001408441.1:c.664+1461_664+1465del
  • NM_001408442.1:c.664+1461_664+1465del
  • NM_001408443.1:c.664+1461_664+1465del
  • NM_001408444.1:c.664+1461_664+1465del
  • NM_001408445.1:c.661+1461_661+1465del
  • NM_001408446.1:c.661+1461_661+1465del
  • NM_001408447.1:c.661+1461_661+1465del
  • NM_001408448.1:c.661+1461_661+1465del
  • NM_001408450.1:c.661+1461_661+1465del
  • NM_001408451.1:c.652+1461_652+1465del
  • NM_001408452.1:c.646+1461_646+1465del
  • NM_001408453.1:c.646+1461_646+1465del
  • NM_001408454.1:c.646+1461_646+1465del
  • NM_001408455.1:c.646+1461_646+1465del
  • NM_001408456.1:c.646+1461_646+1465del
  • NM_001408457.1:c.646+1461_646+1465del
  • NM_001408458.1:c.646+1461_646+1465del
  • NM_001408459.1:c.646+1461_646+1465del
  • NM_001408460.1:c.646+1461_646+1465del
  • NM_001408461.1:c.646+1461_646+1465del
  • NM_001408462.1:c.643+1461_643+1465del
  • NM_001408463.1:c.643+1461_643+1465del
  • NM_001408464.1:c.643+1461_643+1465del
  • NM_001408465.1:c.643+1461_643+1465del
  • NM_001408466.1:c.646+1461_646+1465del
  • NM_001408467.1:c.646+1461_646+1465del
  • NM_001408468.1:c.643+1461_643+1465del
  • NM_001408469.1:c.646+1461_646+1465del
  • NM_001408470.1:c.643+1461_643+1465del
  • NM_001408472.1:c.787+1461_787+1465del
  • NM_001408473.1:c.784+1461_784+1465del
  • NM_001408474.1:c.586+1461_586+1465del
  • NM_001408475.1:c.583+1461_583+1465del
  • NM_001408476.1:c.586+1461_586+1465del
  • NM_001408478.1:c.577+1461_577+1465del
  • NM_001408479.1:c.577+1461_577+1465del
  • NM_001408480.1:c.577+1461_577+1465del
  • NM_001408481.1:c.577+1461_577+1465del
  • NM_001408482.1:c.577+1461_577+1465del
  • NM_001408483.1:c.577+1461_577+1465del
  • NM_001408484.1:c.577+1461_577+1465del
  • NM_001408485.1:c.577+1461_577+1465del
  • NM_001408489.1:c.577+1461_577+1465del
  • NM_001408490.1:c.574+1461_574+1465del
  • NM_001408491.1:c.574+1461_574+1465del
  • NM_001408492.1:c.577+1461_577+1465del
  • NM_001408493.1:c.574+1461_574+1465del
  • NM_001408494.1:c.548-2251_548-2247del
  • NM_001408495.1:c.545-2251_545-2247del
  • NM_001408496.1:c.523+1461_523+1465del
  • NM_001408497.1:c.523+1461_523+1465del
  • NM_001408498.1:c.523+1461_523+1465del
  • NM_001408499.1:c.523+1461_523+1465del
  • NM_001408500.1:c.523+1461_523+1465del
  • NM_001408501.1:c.523+1461_523+1465del
  • NM_001408502.1:c.454+1461_454+1465del
  • NM_001408503.1:c.520+1461_520+1465del
  • NM_001408504.1:c.520+1461_520+1465del
  • NM_001408505.1:c.520+1461_520+1465del
  • NM_001408506.1:c.461-2251_461-2247del
  • NM_001408507.1:c.461-2251_461-2247del
  • NM_001408508.1:c.451+1461_451+1465del
  • NM_001408509.1:c.451+1461_451+1465del
  • NM_001408510.1:c.406+1461_406+1465del
  • NM_001408511.1:c.404-2251_404-2247del
  • NM_001408512.1:c.283+1461_283+1465del
  • NM_001408513.1:c.577+1461_577+1465del
  • NM_001408514.1:c.577+1461_577+1465del
  • NM_007294.4:c.2248_2252delMANE SELECT
  • NM_007297.4:c.2107_2111del
  • NM_007298.4:c.787+1461_787+1465del
  • NM_007299.4:c.787+1461_787+1465del
  • NM_007300.4:c.2248_2252del
  • NP_001394500.1:p.Leu679fs
  • NP_001394510.1:p.Leu750fs
  • NP_001394511.1:p.Leu750fs
  • NP_001394512.1:p.Leu750fs
  • NP_001394514.1:p.Leu750fs
  • NP_001394516.1:p.Leu749fs
  • NP_001394519.1:p.Leu749fs
  • NP_001394520.1:p.Leu749fs
  • NP_001394522.1:p.Leu750fs
  • NP_001394523.1:p.Leu750fs
  • NP_001394525.1:p.Leu750fs
  • NP_001394526.1:p.Leu750fs
  • NP_001394527.1:p.Leu750fs
  • NP_001394531.1:p.Leu750fs
  • NP_001394532.1:p.Leu750fs
  • NP_001394534.1:p.Leu750fs
  • NP_001394539.1:p.Leu749fs
  • NP_001394540.1:p.Leu749fs
  • NP_001394541.1:p.Leu749fs
  • NP_001394542.1:p.Leu749fs
  • NP_001394543.1:p.Leu749fs
  • NP_001394544.1:p.Leu749fs
  • NP_001394545.1:p.Leu750fs
  • NP_001394546.1:p.Leu750fs
  • NP_001394547.1:p.Leu750fs
  • NP_001394548.1:p.Leu750fs
  • NP_001394549.1:p.Leu750fs
  • NP_001394550.1:p.Leu750fs
  • NP_001394551.1:p.Leu750fs
  • NP_001394552.1:p.Leu750fs
  • NP_001394553.1:p.Leu750fs
  • NP_001394554.1:p.Leu750fs
  • NP_001394555.1:p.Leu750fs
  • NP_001394556.1:p.Leu749fs
  • NP_001394557.1:p.Leu749fs
  • NP_001394558.1:p.Leu749fs
  • NP_001394559.1:p.Leu749fs
  • NP_001394560.1:p.Leu749fs
  • NP_001394561.1:p.Leu749fs
  • NP_001394562.1:p.Leu749fs
  • NP_001394563.1:p.Leu749fs
  • NP_001394564.1:p.Leu749fs
  • NP_001394565.1:p.Leu749fs
  • NP_001394566.1:p.Leu749fs
  • NP_001394567.1:p.Leu749fs
  • NP_001394568.1:p.Leu750fs
  • NP_001394569.1:p.Leu750fs
  • NP_001394570.1:p.Leu750fs
  • NP_001394571.1:p.Leu750fs
  • NP_001394573.1:p.Leu749fs
  • NP_001394574.1:p.Leu749fs
  • NP_001394575.1:p.Leu747fs
  • NP_001394576.1:p.Leu747fs
  • NP_001394577.1:p.Leu709fs
  • NP_001394578.1:p.Leu708fs
  • NP_001394581.1:p.Leu750fs
  • NP_001394582.1:p.Leu724fs
  • NP_001394583.1:p.Leu724fs
  • NP_001394584.1:p.Leu724fs
  • NP_001394585.1:p.Leu724fs
  • NP_001394586.1:p.Leu724fs
  • NP_001394587.1:p.Leu724fs
  • NP_001394588.1:p.Leu723fs
  • NP_001394589.1:p.Leu723fs
  • NP_001394590.1:p.Leu723fs
  • NP_001394591.1:p.Leu723fs
  • NP_001394592.1:p.Leu724fs
  • NP_001394593.1:p.Leu709fs
  • NP_001394594.1:p.Leu709fs
  • NP_001394595.1:p.Leu709fs
  • NP_001394596.1:p.Leu709fs
  • NP_001394597.1:p.Leu709fs
  • NP_001394598.1:p.Leu709fs
  • NP_001394599.1:p.Leu708fs
  • NP_001394600.1:p.Leu708fs
  • NP_001394601.1:p.Leu708fs
  • NP_001394602.1:p.Leu708fs
  • NP_001394603.1:p.Leu709fs
  • NP_001394604.1:p.Leu709fs
  • NP_001394605.1:p.Leu709fs
  • NP_001394606.1:p.Leu709fs
  • NP_001394607.1:p.Leu709fs
  • NP_001394608.1:p.Leu709fs
  • NP_001394609.1:p.Leu709fs
  • NP_001394610.1:p.Leu709fs
  • NP_001394611.1:p.Leu709fs
  • NP_001394612.1:p.Leu709fs
  • NP_001394613.1:p.Leu750fs
  • NP_001394614.1:p.Leu708fs
  • NP_001394615.1:p.Leu708fs
  • NP_001394616.1:p.Leu708fs
  • NP_001394617.1:p.Leu708fs
  • NP_001394618.1:p.Leu708fs
  • NP_001394619.1:p.Leu708fs
  • NP_001394620.1:p.Leu708fs
  • NP_001394621.1:p.Leu703fs
  • NP_001394623.1:p.Leu703fs
  • NP_001394624.1:p.Leu703fs
  • NP_001394625.1:p.Leu703fs
  • NP_001394626.1:p.Leu703fs
  • NP_001394627.1:p.Leu703fs
  • NP_001394653.1:p.Leu703fs
  • NP_001394654.1:p.Leu703fs
  • NP_001394655.1:p.Leu703fs
  • NP_001394656.1:p.Leu703fs
  • NP_001394657.1:p.Leu703fs
  • NP_001394658.1:p.Leu703fs
  • NP_001394659.1:p.Leu703fs
  • NP_001394660.1:p.Leu703fs
  • NP_001394661.1:p.Leu703fs
  • NP_001394662.1:p.Leu703fs
  • NP_001394663.1:p.Leu703fs
  • NP_001394664.1:p.Leu703fs
  • NP_001394665.1:p.Leu703fs
  • NP_001394666.1:p.Leu703fs
  • NP_001394667.1:p.Leu703fs
  • NP_001394668.1:p.Leu703fs
  • NP_001394669.1:p.Leu702fs
  • NP_001394670.1:p.Leu702fs
  • NP_001394671.1:p.Leu702fs
  • NP_001394672.1:p.Leu702fs
  • NP_001394673.1:p.Leu702fs
  • NP_001394674.1:p.Leu702fs
  • NP_001394675.1:p.Leu702fs
  • NP_001394676.1:p.Leu702fs
  • NP_001394677.1:p.Leu702fs
  • NP_001394678.1:p.Leu702fs
  • NP_001394679.1:p.Leu703fs
  • NP_001394680.1:p.Leu703fs
  • NP_001394681.1:p.Leu703fs
  • NP_001394767.1:p.Leu702fs
  • NP_001394768.1:p.Leu702fs
  • NP_001394770.1:p.Leu702fs
  • NP_001394771.1:p.Leu702fs
  • NP_001394772.1:p.Leu702fs
  • NP_001394773.1:p.Leu702fs
  • NP_001394774.1:p.Leu702fs
  • NP_001394775.1:p.Leu702fs
  • NP_001394776.1:p.Leu702fs
  • NP_001394777.1:p.Leu702fs
  • NP_001394778.1:p.Leu702fs
  • NP_001394779.1:p.Leu703fs
  • NP_001394780.1:p.Leu703fs
  • NP_001394781.1:p.Leu703fs
  • NP_001394782.1:p.Leu679fs
  • NP_001394783.1:p.Leu750fs
  • NP_001394787.1:p.Leu750fs
  • NP_001394788.1:p.Leu750fs
  • NP_001394789.1:p.Leu749fs
  • NP_001394790.1:p.Leu749fs
  • NP_001394791.1:p.Leu683fs
  • NP_001394792.1:p.Leu709fs
  • NP_001394803.1:p.Leu682fs
  • NP_001394804.1:p.Leu682fs
  • NP_001394808.1:p.Leu680fs
  • NP_001394810.1:p.Leu680fs
  • NP_001394811.1:p.Leu680fs
  • NP_001394813.1:p.Leu680fs
  • NP_001394814.1:p.Leu680fs
  • NP_001394815.1:p.Leu680fs
  • NP_001394816.1:p.Leu680fs
  • NP_001394818.1:p.Leu680fs
  • NP_001394823.1:p.Leu679fs
  • NP_001394824.1:p.Leu679fs
  • NP_001394825.1:p.Leu679fs
  • NP_001394826.1:p.Leu679fs
  • NP_001394827.1:p.Leu679fs
  • NP_001394828.1:p.Leu679fs
  • NP_001394829.1:p.Leu680fs
  • NP_001394831.1:p.Leu680fs
  • NP_001394833.1:p.Leu680fs
  • NP_001394835.1:p.Leu680fs
  • NP_001394836.1:p.Leu680fs
  • NP_001394837.1:p.Leu680fs
  • NP_001394838.1:p.Leu680fs
  • NP_001394839.1:p.Leu680fs
  • NP_001394844.1:p.Leu679fs
  • NP_001394845.1:p.Leu679fs
  • NP_001394846.1:p.Leu679fs
  • NP_001394847.1:p.Leu679fs
  • NP_001394848.1:p.Leu709fs
  • NP_001394849.1:p.Leu662fs
  • NP_001394850.1:p.Leu662fs
  • NP_001394851.1:p.Leu662fs
  • NP_001394852.1:p.Leu662fs
  • NP_001394853.1:p.Leu662fs
  • NP_001394854.1:p.Leu662fs
  • NP_001394855.1:p.Leu662fs
  • NP_001394856.1:p.Leu662fs
  • NP_001394857.1:p.Leu662fs
  • NP_001394858.1:p.Leu662fs
  • NP_001394859.1:p.Leu661fs
  • NP_001394860.1:p.Leu661fs
  • NP_001394861.1:p.Leu661fs
  • NP_001394862.1:p.Leu662fs
  • NP_001394863.1:p.Leu661fs
  • NP_001394864.1:p.Leu662fs
  • NP_001394865.1:p.Leu661fs
  • NP_001394866.1:p.Leu709fs
  • NP_001394867.1:p.Leu709fs
  • NP_001394868.1:p.Leu709fs
  • NP_001394869.1:p.Leu708fs
  • NP_001394870.1:p.Leu708fs
  • NP_001394871.1:p.Leu703fs
  • NP_001394872.1:p.Leu702fs
  • NP_001394873.1:p.Leu703fs
  • NP_001394874.1:p.Leu703fs
  • NP_001394875.1:p.Leu639fs
  • NP_001394876.1:p.Leu639fs
  • NP_001394877.1:p.Leu639fs
  • NP_001394878.1:p.Leu639fs
  • NP_001394879.1:p.Leu639fs
  • NP_001394880.1:p.Leu639fs
  • NP_001394881.1:p.Leu639fs
  • NP_001394882.1:p.Leu639fs
  • NP_001394883.1:p.Leu638fs
  • NP_001394884.1:p.Leu638fs
  • NP_001394885.1:p.Leu638fs
  • NP_001394886.1:p.Leu639fs
  • NP_001394887.1:p.Leu638fs
  • NP_001394888.1:p.Leu623fs
  • NP_001394889.1:p.Leu623fs
  • NP_001394891.1:p.Leu622fs
  • NP_001394892.1:p.Leu623fs
  • NP_001394893.1:p.Leu702fs
  • NP_001394894.1:p.Leu582fs
  • NP_001394895.1:p.Leu454fs
  • NP_001394896.1:p.Leu454fs
  • NP_009225.1:p.Leu750Valfs
  • NP_009225.1:p.Leu750fs
  • NP_009228.2:p.Leu703fs
  • NP_009231.2:p.Leu750fs
  • LRG_292t1:c.2246_2250del
  • LRG_292:g.124701_124705del
  • LRG_292p1:p.Leu750Valfs
  • NC_000017.10:g.41245298_41245302del
  • NM_007294.3:c.2246_2250delATCTC
  • NM_007294.3:c.2248_2252delCTCAT
  • NR_027676.1:n.2382_2386delATCTC
  • p.(Leu750ValfsTer10)
Protein change:
L454fs
Links:
dbSNP: rs397508954
NCBI 1000 Genomes Browser:
rs397508954
Molecular consequence:
  • NM_001407571.1:c.2035_2039del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407581.1:c.2248_2252del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407582.1:c.2248_2252del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407583.1:c.2248_2252del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407585.1:c.2248_2252del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407587.1:c.2245_2249del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407590.1:c.2245_2249del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407591.1:c.2245_2249del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407593.1:c.2248_2252del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407594.1:c.2248_2252del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407596.1:c.2248_2252del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407597.1:c.2248_2252del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407598.1:c.2248_2252del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407602.1:c.2248_2252del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407603.1:c.2248_2252del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407605.1:c.2248_2252del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407610.1:c.2245_2249del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407611.1:c.2245_2249del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407612.1:c.2245_2249del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407613.1:c.2245_2249del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407614.1:c.2245_2249del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407615.1:c.2245_2249del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407616.1:c.2248_2252del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407617.1:c.2248_2252del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407618.1:c.2248_2252del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407619.1:c.2248_2252del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407620.1:c.2248_2252del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407621.1:c.2248_2252del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407622.1:c.2248_2252del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407623.1:c.2248_2252del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407624.1:c.2248_2252del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407625.1:c.2248_2252del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407626.1:c.2248_2252del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407627.1:c.2245_2249del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407628.1:c.2245_2249del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407629.1:c.2245_2249del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407630.1:c.2245_2249del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407631.1:c.2245_2249del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407632.1:c.2245_2249del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407633.1:c.2245_2249del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407634.1:c.2245_2249del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407635.1:c.2245_2249del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407636.1:c.2245_2249del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407637.1:c.2245_2249del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407638.1:c.2245_2249del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407639.1:c.2248_2252del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407640.1:c.2248_2252del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407641.1:c.2248_2252del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407642.1:c.2248_2252del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407644.1:c.2245_2249del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407645.1:c.2245_2249del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407646.1:c.2239_2243del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407647.1:c.2239_2243del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407648.1:c.2125_2129del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407649.1:c.2122_2126del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407652.1:c.2248_2252del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407653.1:c.2170_2174del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407654.1:c.2170_2174del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407655.1:c.2170_2174del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407656.1:c.2170_2174del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407657.1:c.2170_2174del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407658.1:c.2170_2174del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407659.1:c.2167_2171del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407660.1:c.2167_2171del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407661.1:c.2167_2171del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407662.1:c.2167_2171del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407663.1:c.2170_2174del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407664.1:c.2125_2129del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407665.1:c.2125_2129del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407666.1:c.2125_2129del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407667.1:c.2125_2129del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407668.1:c.2125_2129del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407669.1:c.2125_2129del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407670.1:c.2122_2126del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407671.1:c.2122_2126del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407672.1:c.2122_2126del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407673.1:c.2122_2126del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407674.1:c.2125_2129del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407675.1:c.2125_2129del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407676.1:c.2125_2129del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407677.1:c.2125_2129del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407678.1:c.2125_2129del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407679.1:c.2125_2129del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407680.1:c.2125_2129del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407681.1:c.2125_2129del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407682.1:c.2125_2129del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407683.1:c.2125_2129del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407684.1:c.2248_2252del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407685.1:c.2122_2126del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407686.1:c.2122_2126del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407687.1:c.2122_2126del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407688.1:c.2122_2126del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407689.1:c.2122_2126del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407690.1:c.2122_2126del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407691.1:c.2122_2126del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407692.1:c.2107_2111del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407694.1:c.2107_2111del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407695.1:c.2107_2111del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407696.1:c.2107_2111del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407697.1:c.2107_2111del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407698.1:c.2107_2111del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407724.1:c.2107_2111del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407725.1:c.2107_2111del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407726.1:c.2107_2111del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407727.1:c.2107_2111del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407728.1:c.2107_2111del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407729.1:c.2107_2111del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407730.1:c.2107_2111del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407731.1:c.2107_2111del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407732.1:c.2107_2111del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407733.1:c.2107_2111del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407734.1:c.2107_2111del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407735.1:c.2107_2111del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407736.1:c.2107_2111del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407737.1:c.2107_2111del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407738.1:c.2107_2111del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407739.1:c.2107_2111del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407740.1:c.2104_2108del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407741.1:c.2104_2108del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407742.1:c.2104_2108del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407743.1:c.2104_2108del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407744.1:c.2104_2108del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407745.1:c.2104_2108del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407746.1:c.2104_2108del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407747.1:c.2104_2108del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407748.1:c.2104_2108del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407749.1:c.2104_2108del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407750.1:c.2107_2111del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407751.1:c.2107_2111del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407752.1:c.2107_2111del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407838.1:c.2104_2108del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407839.1:c.2104_2108del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407841.1:c.2104_2108del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407842.1:c.2104_2108del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407843.1:c.2104_2108del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407844.1:c.2104_2108del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407845.1:c.2104_2108del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407846.1:c.2104_2108del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407847.1:c.2104_2108del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407848.1:c.2104_2108del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407849.1:c.2104_2108del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407850.1:c.2107_2111del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407851.1:c.2107_2111del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407852.1:c.2107_2111del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407853.1:c.2035_2039del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407854.1:c.2248_2252del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407858.1:c.2248_2252del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407859.1:c.2248_2252del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407860.1:c.2245_2249del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407861.1:c.2245_2249del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407862.1:c.2047_2051del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407863.1:c.2125_2129del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407874.1:c.2044_2048del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407875.1:c.2044_2048del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407879.1:c.2038_2042del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407881.1:c.2038_2042del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407882.1:c.2038_2042del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407884.1:c.2038_2042del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407885.1:c.2038_2042del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407886.1:c.2038_2042del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407887.1:c.2038_2042del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407889.1:c.2038_2042del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407894.1:c.2035_2039del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407895.1:c.2035_2039del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407896.1:c.2035_2039del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407897.1:c.2035_2039del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407898.1:c.2035_2039del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407899.1:c.2035_2039del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407900.1:c.2038_2042del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407902.1:c.2038_2042del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407904.1:c.2038_2042del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407906.1:c.2038_2042del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407907.1:c.2038_2042del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407908.1:c.2038_2042del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407909.1:c.2038_2042del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407910.1:c.2038_2042del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407915.1:c.2035_2039del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407916.1:c.2035_2039del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407917.1:c.2035_2039del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407918.1:c.2035_2039del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407919.1:c.2125_2129del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407920.1:c.1984_1988del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407921.1:c.1984_1988del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407922.1:c.1984_1988del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407923.1:c.1984_1988del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407924.1:c.1984_1988del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407925.1:c.1984_1988del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407926.1:c.1984_1988del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407927.1:c.1984_1988del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407928.1:c.1984_1988del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407929.1:c.1984_1988del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407930.1:c.1981_1985del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407931.1:c.1981_1985del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407932.1:c.1981_1985del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407933.1:c.1984_1988del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407934.1:c.1981_1985del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407935.1:c.1984_1988del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407936.1:c.1981_1985del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407937.1:c.2125_2129del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407938.1:c.2125_2129del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407939.1:c.2125_2129del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407940.1:c.2122_2126del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407941.1:c.2122_2126del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407942.1:c.2107_2111del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407943.1:c.2104_2108del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407944.1:c.2107_2111del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407945.1:c.2107_2111del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407946.1:c.1915_1919del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407947.1:c.1915_1919del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407948.1:c.1915_1919del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407949.1:c.1915_1919del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407950.1:c.1915_1919del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407951.1:c.1915_1919del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407952.1:c.1915_1919del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407953.1:c.1915_1919del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407954.1:c.1912_1916del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407955.1:c.1912_1916del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407956.1:c.1912_1916del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407957.1:c.1915_1919del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407958.1:c.1912_1916del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407959.1:c.1867_1871del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407960.1:c.1867_1871del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407962.1:c.1864_1868del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407963.1:c.1867_1871del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407964.1:c.2104_2108del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407965.1:c.1744_1748del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407966.1:c.1360_1364del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407967.1:c.1360_1364del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007294.4:c.2248_2252del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007297.4:c.2107_2111del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007300.4:c.2248_2252del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407968.1:c.788-1144_788-1140del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.788-1144_788-1140del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.787+1461_787+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.787+1461_787+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.784+1461_784+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.787+1461_787+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.787+1461_787+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.787+1461_787+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.787+1461_787+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.787+1461_787+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.787+1461_787+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.787+1461_787+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.787+1461_787+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.787+1461_787+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.787+1461_787+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.787+1461_787+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.784+1461_784+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.784+1461_784+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.784+1461_784+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.787+1461_787+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.784+1461_784+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.784+1461_784+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.787+1461_787+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.784+1461_784+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.784+1461_784+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.784+1461_784+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.784+1461_784+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.784+1461_784+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.784+1461_784+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.784+1461_784+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.784+1461_784+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.787+1461_787+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.787+1461_787+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.790+1458_790+1462del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.784+1461_784+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.778+1461_778+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.709+1461_709+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.646+1461_646+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.709+1461_709+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.709+1461_709+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.706+1461_706+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.709+1461_709+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.709+1461_709+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.706+1461_706+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-2251_671-2247del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-2251_671-2247del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-2251_671-2247del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-2251_668-2247del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-2251_671-2247del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-2251_671-2247del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-2251_668-2247del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.664+1461_664+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.664+1461_664+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.664+1461_664+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.664+1461_664+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.664+1461_664+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.664+1461_664+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-2251_668-2247del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.661+1461_661+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.661+1461_661+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.661+1461_661+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.661+1461_661+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.664+1461_664+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.664+1461_664+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.664+1461_664+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.664+1461_664+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.664+1461_664+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.664+1461_664+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.664+1461_664+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.664+1461_664+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.664+1461_664+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.661+1461_661+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.661+1461_661+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.661+1461_661+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.661+1461_661+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.661+1461_661+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.652+1461_652+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.646+1461_646+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.646+1461_646+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.646+1461_646+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.646+1461_646+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.646+1461_646+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.646+1461_646+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.646+1461_646+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.646+1461_646+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.646+1461_646+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.646+1461_646+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.643+1461_643+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.643+1461_643+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.643+1461_643+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.643+1461_643+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.646+1461_646+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.646+1461_646+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.643+1461_643+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.646+1461_646+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.643+1461_643+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.787+1461_787+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.784+1461_784+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.586+1461_586+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.583+1461_583+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.586+1461_586+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.577+1461_577+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.577+1461_577+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.577+1461_577+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.577+1461_577+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.577+1461_577+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.577+1461_577+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.577+1461_577+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.577+1461_577+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.577+1461_577+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.574+1461_574+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.574+1461_574+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.577+1461_577+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.574+1461_574+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-2251_548-2247del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-2251_545-2247del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.523+1461_523+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.523+1461_523+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.523+1461_523+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.523+1461_523+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.523+1461_523+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.523+1461_523+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.454+1461_454+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.520+1461_520+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.520+1461_520+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.520+1461_520+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-2251_461-2247del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-2251_461-2247del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.451+1461_451+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.451+1461_451+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.406+1461_406+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-2251_404-2247del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.283+1461_283+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.577+1461_577+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.577+1461_577+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.787+1461_787+1465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.787+1461_787+1465del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Breast-ovarian cancer, familial, susceptibility to, 1 (BROVCA1)
Synonyms:
OVARIAN CANCER, SUSCEPTIBILITY TO; Breast-ovarian cancer, familial 1; Breast cancer, familial 1
Identifiers:
MONDO: MONDO:0011450; MedGen: C2676676; Orphanet: 145; OMIM: 604370

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000267699Michigan Medical Genetics Laboratories, University of Michigan
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Apr 21, 2016) 		germlineclinical testing

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

SCV000783224Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) - ENIGMA
reviewed by expert panel

(ENIGMA BRCA1/2 Classification Criteria (2017-06-29))		Pathogenic
(Dec 15, 2017) 		germlinecuration

Citation Link

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Summary from all submissions

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

Citations

PubMed

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

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

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

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Michigan Medical Genetics Laboratories, University of Michigan, SCV000267699.1

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

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) - ENIGMA, SCV000783224.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Variant allele predicted to encode a truncated non-functional protein.

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

Last Updated: May 26, 2024