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NM_007294.4(BRCA1):c.5277+48_5277+59dup AND not provided

Germline classification:
Likely benign (2 submissions)
Last evaluated:
Apr 1, 2024
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001799671.15

Allele description [Variation Report for NM_007294.4(BRCA1):c.5277+48_5277+59dup]

NM_007294.4(BRCA1):c.5277+48_5277+59dup

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.5277+48_5277+59dup
HGVS:
  • NC_000017.11:g.43056993_43057004dup
  • NG_005905.2:g.160980_160991dup
  • NM_001407571.1:c.5064+48_5064+59dup
  • NM_001407581.1:c.5343+48_5343+59dup
  • NM_001407582.1:c.5343+48_5343+59dup
  • NM_001407583.1:c.5340+48_5340+59dup
  • NM_001407585.1:c.5340+48_5340+59dup
  • NM_001407587.1:c.5340+48_5340+59dup
  • NM_001407590.1:c.5337+48_5337+59dup
  • NM_001407591.1:c.5337+48_5337+59dup
  • NM_001407593.1:c.5277+48_5277+59dup
  • NM_001407594.1:c.5277+48_5277+59dup
  • NM_001407596.1:c.5277+48_5277+59dup
  • NM_001407597.1:c.5277+48_5277+59dup
  • NM_001407598.1:c.5277+48_5277+59dup
  • NM_001407602.1:c.5277+48_5277+59dup
  • NM_001407603.1:c.5277+48_5277+59dup
  • NM_001407605.1:c.5277+48_5277+59dup
  • NM_001407610.1:c.5274+48_5274+59dup
  • NM_001407611.1:c.5274+48_5274+59dup
  • NM_001407612.1:c.5274+48_5274+59dup
  • NM_001407613.1:c.5274+48_5274+59dup
  • NM_001407614.1:c.5274+48_5274+59dup
  • NM_001407615.1:c.5274+48_5274+59dup
  • NM_001407616.1:c.5274+48_5274+59dup
  • NM_001407617.1:c.5274+48_5274+59dup
  • NM_001407618.1:c.5274+48_5274+59dup
  • NM_001407619.1:c.5274+48_5274+59dup
  • NM_001407620.1:c.5274+48_5274+59dup
  • NM_001407621.1:c.5274+48_5274+59dup
  • NM_001407622.1:c.5274+48_5274+59dup
  • NM_001407623.1:c.5274+48_5274+59dup
  • NM_001407624.1:c.5274+48_5274+59dup
  • NM_001407625.1:c.5274+48_5274+59dup
  • NM_001407626.1:c.5274+48_5274+59dup
  • NM_001407627.1:c.5271+48_5271+59dup
  • NM_001407628.1:c.5271+48_5271+59dup
  • NM_001407629.1:c.5271+48_5271+59dup
  • NM_001407630.1:c.5271+48_5271+59dup
  • NM_001407631.1:c.5271+48_5271+59dup
  • NM_001407632.1:c.5271+48_5271+59dup
  • NM_001407633.1:c.5271+48_5271+59dup
  • NM_001407634.1:c.5271+48_5271+59dup
  • NM_001407635.1:c.5271+48_5271+59dup
  • NM_001407636.1:c.5271+48_5271+59dup
  • NM_001407637.1:c.5271+48_5271+59dup
  • NM_001407638.1:c.5271+48_5271+59dup
  • NM_001407639.1:c.5271+48_5271+59dup
  • NM_001407640.1:c.5271+48_5271+59dup
  • NM_001407641.1:c.5271+48_5271+59dup
  • NM_001407642.1:c.5271+48_5271+59dup
  • NM_001407644.1:c.5268+48_5268+59dup
  • NM_001407645.1:c.5268+48_5268+59dup
  • NM_001407646.1:c.5265+48_5265+59dup
  • NM_001407647.1:c.5262+48_5262+59dup
  • NM_001407648.1:c.5220+48_5220+59dup
  • NM_001407649.1:c.5217+48_5217+59dup
  • NM_001407652.1:c.5199+48_5199+59dup
  • NM_001407653.1:c.5199+48_5199+59dup
  • NM_001407654.1:c.5199+48_5199+59dup
  • NM_001407655.1:c.5199+48_5199+59dup
  • NM_001407656.1:c.5196+48_5196+59dup
  • NM_001407657.1:c.5196+48_5196+59dup
  • NM_001407658.1:c.5196+48_5196+59dup
  • NM_001407659.1:c.5193+48_5193+59dup
  • NM_001407660.1:c.5193+48_5193+59dup
  • NM_001407661.1:c.5193+48_5193+59dup
  • NM_001407662.1:c.5193+48_5193+59dup
  • NM_001407663.1:c.5193+48_5193+59dup
  • NM_001407664.1:c.5154+48_5154+59dup
  • NM_001407665.1:c.5154+48_5154+59dup
  • NM_001407666.1:c.5154+48_5154+59dup
  • NM_001407667.1:c.5154+48_5154+59dup
  • NM_001407668.1:c.5154+48_5154+59dup
  • NM_001407669.1:c.5154+48_5154+59dup
  • NM_001407670.1:c.5151+48_5151+59dup
  • NM_001407671.1:c.5151+48_5151+59dup
  • NM_001407672.1:c.5151+48_5151+59dup
  • NM_001407673.1:c.5151+48_5151+59dup
  • NM_001407674.1:c.5151+48_5151+59dup
  • NM_001407675.1:c.5151+48_5151+59dup
  • NM_001407676.1:c.5151+48_5151+59dup
  • NM_001407677.1:c.5151+48_5151+59dup
  • NM_001407678.1:c.5151+48_5151+59dup
  • NM_001407679.1:c.5151+48_5151+59dup
  • NM_001407680.1:c.5151+48_5151+59dup
  • NM_001407681.1:c.5148+48_5148+59dup
  • NM_001407682.1:c.5148+48_5148+59dup
  • NM_001407683.1:c.5148+48_5148+59dup
  • NM_001407684.1:c.5277+48_5277+59dup
  • NM_001407685.1:c.5148+48_5148+59dup
  • NM_001407686.1:c.5148+48_5148+59dup
  • NM_001407687.1:c.5148+48_5148+59dup
  • NM_001407688.1:c.5148+48_5148+59dup
  • NM_001407689.1:c.5148+48_5148+59dup
  • NM_001407690.1:c.5145+48_5145+59dup
  • NM_001407691.1:c.5145+48_5145+59dup
  • NM_001407692.1:c.5136+48_5136+59dup
  • NM_001407694.1:c.5136+48_5136+59dup
  • NM_001407695.1:c.5136+48_5136+59dup
  • NM_001407696.1:c.5136+48_5136+59dup
  • NM_001407697.1:c.5136+48_5136+59dup
  • NM_001407698.1:c.5136+48_5136+59dup
  • NM_001407724.1:c.5136+48_5136+59dup
  • NM_001407725.1:c.5136+48_5136+59dup
  • NM_001407726.1:c.5136+48_5136+59dup
  • NM_001407727.1:c.5136+48_5136+59dup
  • NM_001407728.1:c.5136+48_5136+59dup
  • NM_001407729.1:c.5136+48_5136+59dup
  • NM_001407730.1:c.5136+48_5136+59dup
  • NM_001407731.1:c.5136+48_5136+59dup
  • NM_001407732.1:c.5133+48_5133+59dup
  • NM_001407733.1:c.5133+48_5133+59dup
  • NM_001407734.1:c.5133+48_5133+59dup
  • NM_001407735.1:c.5133+48_5133+59dup
  • NM_001407736.1:c.5133+48_5133+59dup
  • NM_001407737.1:c.5133+48_5133+59dup
  • NM_001407738.1:c.5133+48_5133+59dup
  • NM_001407739.1:c.5133+48_5133+59dup
  • NM_001407740.1:c.5133+48_5133+59dup
  • NM_001407741.1:c.5133+48_5133+59dup
  • NM_001407742.1:c.5133+48_5133+59dup
  • NM_001407743.1:c.5133+48_5133+59dup
  • NM_001407744.1:c.5133+48_5133+59dup
  • NM_001407745.1:c.5133+48_5133+59dup
  • NM_001407746.1:c.5133+48_5133+59dup
  • NM_001407747.1:c.5133+48_5133+59dup
  • NM_001407748.1:c.5133+48_5133+59dup
  • NM_001407749.1:c.5133+48_5133+59dup
  • NM_001407750.1:c.5133+48_5133+59dup
  • NM_001407751.1:c.5133+48_5133+59dup
  • NM_001407752.1:c.5133+48_5133+59dup
  • NM_001407838.1:c.5130+48_5130+59dup
  • NM_001407839.1:c.5130+48_5130+59dup
  • NM_001407841.1:c.5130+48_5130+59dup
  • NM_001407842.1:c.5130+48_5130+59dup
  • NM_001407843.1:c.5130+48_5130+59dup
  • NM_001407844.1:c.5130+48_5130+59dup
  • NM_001407845.1:c.5130+48_5130+59dup
  • NM_001407846.1:c.5130+48_5130+59dup
  • NM_001407847.1:c.5130+48_5130+59dup
  • NM_001407848.1:c.5130+48_5130+59dup
  • NM_001407849.1:c.5130+48_5130+59dup
  • NM_001407850.1:c.5130+48_5130+59dup
  • NM_001407851.1:c.5130+48_5130+59dup
  • NM_001407852.1:c.5130+48_5130+59dup
  • NM_001407853.1:c.5130+48_5130+59dup
  • NM_001407854.1:c.5277+48_5277+59dup
  • NM_001407858.1:c.5274+48_5274+59dup
  • NM_001407859.1:c.5274+48_5274+59dup
  • NM_001407860.1:c.5274+48_5274+59dup
  • NM_001407861.1:c.5271+48_5271+59dup
  • NM_001407862.1:c.5076+48_5076+59dup
  • NM_001407863.1:c.5073+48_5073+59dup
  • NM_001407874.1:c.5070+48_5070+59dup
  • NM_001407875.1:c.5070+48_5070+59dup
  • NM_001407879.1:c.5067+48_5067+59dup
  • NM_001407881.1:c.5067+48_5067+59dup
  • NM_001407882.1:c.5067+48_5067+59dup
  • NM_001407884.1:c.5067+48_5067+59dup
  • NM_001407885.1:c.5067+48_5067+59dup
  • NM_001407886.1:c.5067+48_5067+59dup
  • NM_001407887.1:c.5067+48_5067+59dup
  • NM_001407889.1:c.5067+48_5067+59dup
  • NM_001407894.1:c.5064+48_5064+59dup
  • NM_001407895.1:c.5064+48_5064+59dup
  • NM_001407896.1:c.5064+48_5064+59dup
  • NM_001407897.1:c.5064+48_5064+59dup
  • NM_001407898.1:c.5064+48_5064+59dup
  • NM_001407899.1:c.5064+48_5064+59dup
  • NM_001407900.1:c.5064+48_5064+59dup
  • NM_001407902.1:c.5064+48_5064+59dup
  • NM_001407904.1:c.5064+48_5064+59dup
  • NM_001407906.1:c.5064+48_5064+59dup
  • NM_001407907.1:c.5064+48_5064+59dup
  • NM_001407908.1:c.5064+48_5064+59dup
  • NM_001407909.1:c.5064+48_5064+59dup
  • NM_001407910.1:c.5064+48_5064+59dup
  • NM_001407915.1:c.5061+48_5061+59dup
  • NM_001407916.1:c.5061+48_5061+59dup
  • NM_001407917.1:c.5061+48_5061+59dup
  • NM_001407918.1:c.5061+48_5061+59dup
  • NM_001407919.1:c.5154+48_5154+59dup
  • NM_001407920.1:c.5013+48_5013+59dup
  • NM_001407921.1:c.5013+48_5013+59dup
  • NM_001407922.1:c.5013+48_5013+59dup
  • NM_001407923.1:c.5013+48_5013+59dup
  • NM_001407924.1:c.5013+48_5013+59dup
  • NM_001407925.1:c.5013+48_5013+59dup
  • NM_001407926.1:c.5013+48_5013+59dup
  • NM_001407927.1:c.5010+48_5010+59dup
  • NM_001407928.1:c.5010+48_5010+59dup
  • NM_001407929.1:c.5010+48_5010+59dup
  • NM_001407930.1:c.5010+48_5010+59dup
  • NM_001407931.1:c.5010+48_5010+59dup
  • NM_001407932.1:c.5010+48_5010+59dup
  • NM_001407933.1:c.5010+48_5010+59dup
  • NM_001407934.1:c.5007+48_5007+59dup
  • NM_001407935.1:c.5007+48_5007+59dup
  • NM_001407936.1:c.5007+48_5007+59dup
  • NM_001407937.1:c.5154+48_5154+59dup
  • NM_001407938.1:c.5154+48_5154+59dup
  • NM_001407939.1:c.5151+48_5151+59dup
  • NM_001407940.1:c.5151+48_5151+59dup
  • NM_001407941.1:c.5148+48_5148+59dup
  • NM_001407942.1:c.5136+48_5136+59dup
  • NM_001407943.1:c.5133+48_5133+59dup
  • NM_001407944.1:c.5133+48_5133+59dup
  • NM_001407945.1:c.5133+48_5133+59dup
  • NM_001407946.1:c.4944+48_4944+59dup
  • NM_001407947.1:c.4944+48_4944+59dup
  • NM_001407948.1:c.4944+48_4944+59dup
  • NM_001407949.1:c.4944+48_4944+59dup
  • NM_001407950.1:c.4941+48_4941+59dup
  • NM_001407951.1:c.4941+48_4941+59dup
  • NM_001407952.1:c.4941+48_4941+59dup
  • NM_001407953.1:c.4941+48_4941+59dup
  • NM_001407954.1:c.4941+48_4941+59dup
  • NM_001407955.1:c.4941+48_4941+59dup
  • NM_001407956.1:c.4938+48_4938+59dup
  • NM_001407957.1:c.4938+48_4938+59dup
  • NM_001407958.1:c.4938+48_4938+59dup
  • NM_001407959.1:c.4896+48_4896+59dup
  • NM_001407960.1:c.4893+48_4893+59dup
  • NM_001407962.1:c.4893+48_4893+59dup
  • NM_001407963.1:c.4890+48_4890+59dup
  • NM_001407964.1:c.4815+48_4815+59dup
  • NM_001407965.1:c.4770+48_4770+59dup
  • NM_001407966.1:c.4389+48_4389+59dup
  • NM_001407967.1:c.4386+48_4386+59dup
  • NM_001407968.1:c.2673+48_2673+59dup
  • NM_001407969.1:c.2670+48_2670+59dup
  • NM_001407970.1:c.2034+48_2034+59dup
  • NM_001407971.1:c.2034+48_2034+59dup
  • NM_001407972.1:c.2031+48_2031+59dup
  • NM_001407973.1:c.1968+48_1968+59dup
  • NM_001407974.1:c.1968+48_1968+59dup
  • NM_001407975.1:c.1968+48_1968+59dup
  • NM_001407976.1:c.1968+48_1968+59dup
  • NM_001407977.1:c.1968+48_1968+59dup
  • NM_001407978.1:c.1968+48_1968+59dup
  • NM_001407979.1:c.1965+48_1965+59dup
  • NM_001407980.1:c.1965+48_1965+59dup
  • NM_001407981.1:c.1965+48_1965+59dup
  • NM_001407982.1:c.1965+48_1965+59dup
  • NM_001407983.1:c.1965+48_1965+59dup
  • NM_001407984.1:c.1965+48_1965+59dup
  • NM_001407985.1:c.1965+48_1965+59dup
  • NM_001407986.1:c.1965+48_1965+59dup
  • NM_001407990.1:c.1965+48_1965+59dup
  • NM_001407991.1:c.1965+48_1965+59dup
  • NM_001407992.1:c.1965+48_1965+59dup
  • NM_001407993.1:c.1965+48_1965+59dup
  • NM_001408392.1:c.1962+48_1962+59dup
  • NM_001408396.1:c.1962+48_1962+59dup
  • NM_001408397.1:c.1962+48_1962+59dup
  • NM_001408398.1:c.1962+48_1962+59dup
  • NM_001408399.1:c.1962+48_1962+59dup
  • NM_001408400.1:c.1962+48_1962+59dup
  • NM_001408401.1:c.1962+48_1962+59dup
  • NM_001408402.1:c.1962+48_1962+59dup
  • NM_001408403.1:c.1962+48_1962+59dup
  • NM_001408404.1:c.1962+48_1962+59dup
  • NM_001408406.1:c.1959+48_1959+59dup
  • NM_001408407.1:c.1959+48_1959+59dup
  • NM_001408408.1:c.1959+48_1959+59dup
  • NM_001408409.1:c.1956+48_1956+59dup
  • NM_001408410.1:c.1893+48_1893+59dup
  • NM_001408411.1:c.1890+48_1890+59dup
  • NM_001408412.1:c.1887+48_1887+59dup
  • NM_001408413.1:c.1887+48_1887+59dup
  • NM_001408414.1:c.1887+48_1887+59dup
  • NM_001408415.1:c.1887+48_1887+59dup
  • NM_001408416.1:c.1887+48_1887+59dup
  • NM_001408418.1:c.1851+48_1851+59dup
  • NM_001408419.1:c.1851+48_1851+59dup
  • NM_001408420.1:c.1851+48_1851+59dup
  • NM_001408421.1:c.1848+48_1848+59dup
  • NM_001408422.1:c.1848+48_1848+59dup
  • NM_001408423.1:c.1848+48_1848+59dup
  • NM_001408424.1:c.1848+48_1848+59dup
  • NM_001408425.1:c.1845+48_1845+59dup
  • NM_001408426.1:c.1845+48_1845+59dup
  • NM_001408427.1:c.1845+48_1845+59dup
  • NM_001408428.1:c.1845+48_1845+59dup
  • NM_001408429.1:c.1845+48_1845+59dup
  • NM_001408430.1:c.1845+48_1845+59dup
  • NM_001408431.1:c.1845+48_1845+59dup
  • NM_001408432.1:c.1842+48_1842+59dup
  • NM_001408433.1:c.1842+48_1842+59dup
  • NM_001408434.1:c.1842+48_1842+59dup
  • NM_001408435.1:c.1842+48_1842+59dup
  • NM_001408436.1:c.1842+48_1842+59dup
  • NM_001408437.1:c.1842+48_1842+59dup
  • NM_001408438.1:c.1842+48_1842+59dup
  • NM_001408439.1:c.1842+48_1842+59dup
  • NM_001408440.1:c.1842+48_1842+59dup
  • NM_001408441.1:c.1842+48_1842+59dup
  • NM_001408442.1:c.1842+48_1842+59dup
  • NM_001408443.1:c.1842+48_1842+59dup
  • NM_001408444.1:c.1842+48_1842+59dup
  • NM_001408445.1:c.1839+48_1839+59dup
  • NM_001408446.1:c.1839+48_1839+59dup
  • NM_001408447.1:c.1839+48_1839+59dup
  • NM_001408448.1:c.1839+48_1839+59dup
  • NM_001408450.1:c.1839+48_1839+59dup
  • NM_001408451.1:c.1833+48_1833+59dup
  • NM_001408452.1:c.1827+48_1827+59dup
  • NM_001408453.1:c.1827+48_1827+59dup
  • NM_001408454.1:c.1827+48_1827+59dup
  • NM_001408455.1:c.1827+48_1827+59dup
  • NM_001408456.1:c.1827+48_1827+59dup
  • NM_001408457.1:c.1827+48_1827+59dup
  • NM_001408458.1:c.1824+48_1824+59dup
  • NM_001408459.1:c.1824+48_1824+59dup
  • NM_001408460.1:c.1824+48_1824+59dup
  • NM_001408461.1:c.1824+48_1824+59dup
  • NM_001408462.1:c.1824+48_1824+59dup
  • NM_001408463.1:c.1824+48_1824+59dup
  • NM_001408464.1:c.1824+48_1824+59dup
  • NM_001408465.1:c.1824+48_1824+59dup
  • NM_001408466.1:c.1824+48_1824+59dup
  • NM_001408467.1:c.1824+48_1824+59dup
  • NM_001408468.1:c.1821+48_1821+59dup
  • NM_001408469.1:c.1821+48_1821+59dup
  • NM_001408470.1:c.1821+48_1821+59dup
  • NM_001408472.1:c.1965+48_1965+59dup
  • NM_001408473.1:c.1962+48_1962+59dup
  • NM_001408474.1:c.1767+48_1767+59dup
  • NM_001408475.1:c.1764+48_1764+59dup
  • NM_001408476.1:c.1764+48_1764+59dup
  • NM_001408478.1:c.1758+48_1758+59dup
  • NM_001408479.1:c.1758+48_1758+59dup
  • NM_001408480.1:c.1758+48_1758+59dup
  • NM_001408481.1:c.1755+48_1755+59dup
  • NM_001408482.1:c.1755+48_1755+59dup
  • NM_001408483.1:c.1755+48_1755+59dup
  • NM_001408484.1:c.1755+48_1755+59dup
  • NM_001408485.1:c.1755+48_1755+59dup
  • NM_001408489.1:c.1755+48_1755+59dup
  • NM_001408490.1:c.1755+48_1755+59dup
  • NM_001408491.1:c.1755+48_1755+59dup
  • NM_001408492.1:c.1752+48_1752+59dup
  • NM_001408493.1:c.1752+48_1752+59dup
  • NM_001408494.1:c.1728+48_1728+59dup
  • NM_001408495.1:c.1722+48_1722+59dup
  • NM_001408496.1:c.1704+48_1704+59dup
  • NM_001408497.1:c.1704+48_1704+59dup
  • NM_001408498.1:c.1704+48_1704+59dup
  • NM_001408499.1:c.1704+48_1704+59dup
  • NM_001408500.1:c.1704+48_1704+59dup
  • NM_001408501.1:c.1704+48_1704+59dup
  • NM_001408502.1:c.1701+48_1701+59dup
  • NM_001408503.1:c.1701+48_1701+59dup
  • NM_001408504.1:c.1701+48_1701+59dup
  • NM_001408505.1:c.1698+48_1698+59dup
  • NM_001408506.1:c.1641+48_1641+59dup
  • NM_001408507.1:c.1638+48_1638+59dup
  • NM_001408508.1:c.1629+48_1629+59dup
  • NM_001408509.1:c.1626+48_1626+59dup
  • NM_001408510.1:c.1587+48_1587+59dup
  • NM_001408511.1:c.1584+48_1584+59dup
  • NM_001408512.1:c.1464+48_1464+59dup
  • NM_001408513.1:c.1437+48_1437+59dup
  • NM_001408514.1:c.1041+48_1041+59dup
  • NM_007294.3:c.5277+59_5277+60insGTATTCCACTCC
  • NM_007294.4:c.5277+48_5277+59dupMANE SELECT
  • NM_007297.4:c.5136+48_5136+59dup
  • NM_007298.4:c.1965+48_1965+59dup
  • NM_007299.4:c.1965+48_1965+59dup
  • NM_007300.4:c.5340+48_5340+59dup
  • LRG_292t1:c.5277+48_5277+59dup
  • LRG_292:g.160980_160991dup
  • NC_000017.10:g.41209009_41209010insGGAGTGGAATAC
  • NC_000017.10:g.41209010_41209021dup
  • NM_007294.3:c.5277+48_5277+59dup
  • NM_007294.3:c.5277+48_5277+59dupGTATTCCACTCC
  • NM_007294.3:c.5277+59_5277+60insGTATTCCACTCC
  • NM_007294.4:c.5277+48_5277+59dup
Links:
dbSNP: rs572766355
NCBI 1000 Genomes Browser:
rs572766355
Molecular consequence:
  • NM_001407571.1:c.5064+48_5064+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407581.1:c.5343+48_5343+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407582.1:c.5343+48_5343+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407583.1:c.5340+48_5340+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407585.1:c.5340+48_5340+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407587.1:c.5340+48_5340+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407590.1:c.5337+48_5337+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407591.1:c.5337+48_5337+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407593.1:c.5277+48_5277+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407594.1:c.5277+48_5277+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407596.1:c.5277+48_5277+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407597.1:c.5277+48_5277+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407598.1:c.5277+48_5277+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407602.1:c.5277+48_5277+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407603.1:c.5277+48_5277+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407605.1:c.5277+48_5277+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407610.1:c.5274+48_5274+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407611.1:c.5274+48_5274+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407612.1:c.5274+48_5274+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407613.1:c.5274+48_5274+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407614.1:c.5274+48_5274+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407615.1:c.5274+48_5274+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407616.1:c.5274+48_5274+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407617.1:c.5274+48_5274+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407618.1:c.5274+48_5274+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407619.1:c.5274+48_5274+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407620.1:c.5274+48_5274+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407621.1:c.5274+48_5274+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407622.1:c.5274+48_5274+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407623.1:c.5274+48_5274+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407624.1:c.5274+48_5274+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407625.1:c.5274+48_5274+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407626.1:c.5274+48_5274+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407627.1:c.5271+48_5271+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407628.1:c.5271+48_5271+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407629.1:c.5271+48_5271+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407630.1:c.5271+48_5271+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407631.1:c.5271+48_5271+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407632.1:c.5271+48_5271+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407633.1:c.5271+48_5271+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407634.1:c.5271+48_5271+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407635.1:c.5271+48_5271+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407636.1:c.5271+48_5271+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407637.1:c.5271+48_5271+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407638.1:c.5271+48_5271+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407639.1:c.5271+48_5271+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407640.1:c.5271+48_5271+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407641.1:c.5271+48_5271+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407642.1:c.5271+48_5271+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407644.1:c.5268+48_5268+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407645.1:c.5268+48_5268+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407646.1:c.5265+48_5265+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407647.1:c.5262+48_5262+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407648.1:c.5220+48_5220+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407649.1:c.5217+48_5217+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407652.1:c.5199+48_5199+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407653.1:c.5199+48_5199+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407654.1:c.5199+48_5199+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407655.1:c.5199+48_5199+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407656.1:c.5196+48_5196+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407657.1:c.5196+48_5196+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407658.1:c.5196+48_5196+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407659.1:c.5193+48_5193+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407660.1:c.5193+48_5193+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407661.1:c.5193+48_5193+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407662.1:c.5193+48_5193+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407663.1:c.5193+48_5193+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407664.1:c.5154+48_5154+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407665.1:c.5154+48_5154+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407666.1:c.5154+48_5154+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407667.1:c.5154+48_5154+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407668.1:c.5154+48_5154+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407669.1:c.5154+48_5154+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407670.1:c.5151+48_5151+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407671.1:c.5151+48_5151+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407672.1:c.5151+48_5151+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407673.1:c.5151+48_5151+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407674.1:c.5151+48_5151+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407675.1:c.5151+48_5151+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407676.1:c.5151+48_5151+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407677.1:c.5151+48_5151+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407678.1:c.5151+48_5151+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407679.1:c.5151+48_5151+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407680.1:c.5151+48_5151+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407681.1:c.5148+48_5148+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407682.1:c.5148+48_5148+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407683.1:c.5148+48_5148+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407684.1:c.5277+48_5277+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407685.1:c.5148+48_5148+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407686.1:c.5148+48_5148+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407687.1:c.5148+48_5148+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407688.1:c.5148+48_5148+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407689.1:c.5148+48_5148+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407690.1:c.5145+48_5145+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407691.1:c.5145+48_5145+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407692.1:c.5136+48_5136+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407694.1:c.5136+48_5136+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407695.1:c.5136+48_5136+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407696.1:c.5136+48_5136+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407697.1:c.5136+48_5136+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407698.1:c.5136+48_5136+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407724.1:c.5136+48_5136+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407725.1:c.5136+48_5136+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407726.1:c.5136+48_5136+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407727.1:c.5136+48_5136+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407728.1:c.5136+48_5136+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407729.1:c.5136+48_5136+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407730.1:c.5136+48_5136+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407731.1:c.5136+48_5136+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407732.1:c.5133+48_5133+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407733.1:c.5133+48_5133+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407734.1:c.5133+48_5133+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407735.1:c.5133+48_5133+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407736.1:c.5133+48_5133+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407737.1:c.5133+48_5133+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407738.1:c.5133+48_5133+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407739.1:c.5133+48_5133+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407740.1:c.5133+48_5133+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407741.1:c.5133+48_5133+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407742.1:c.5133+48_5133+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407743.1:c.5133+48_5133+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407744.1:c.5133+48_5133+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407745.1:c.5133+48_5133+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407746.1:c.5133+48_5133+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407747.1:c.5133+48_5133+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407748.1:c.5133+48_5133+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407749.1:c.5133+48_5133+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407750.1:c.5133+48_5133+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407751.1:c.5133+48_5133+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407752.1:c.5133+48_5133+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407838.1:c.5130+48_5130+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407839.1:c.5130+48_5130+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407841.1:c.5130+48_5130+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407842.1:c.5130+48_5130+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407843.1:c.5130+48_5130+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407844.1:c.5130+48_5130+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407845.1:c.5130+48_5130+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407846.1:c.5130+48_5130+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407847.1:c.5130+48_5130+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407848.1:c.5130+48_5130+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407849.1:c.5130+48_5130+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407850.1:c.5130+48_5130+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407851.1:c.5130+48_5130+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407852.1:c.5130+48_5130+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407853.1:c.5130+48_5130+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407854.1:c.5277+48_5277+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407858.1:c.5274+48_5274+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407859.1:c.5274+48_5274+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407860.1:c.5274+48_5274+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407861.1:c.5271+48_5271+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407862.1:c.5076+48_5076+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407863.1:c.5073+48_5073+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407874.1:c.5070+48_5070+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407875.1:c.5070+48_5070+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407879.1:c.5067+48_5067+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407881.1:c.5067+48_5067+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407882.1:c.5067+48_5067+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407884.1:c.5067+48_5067+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407885.1:c.5067+48_5067+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407886.1:c.5067+48_5067+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407887.1:c.5067+48_5067+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407889.1:c.5067+48_5067+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407894.1:c.5064+48_5064+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407895.1:c.5064+48_5064+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407896.1:c.5064+48_5064+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407897.1:c.5064+48_5064+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407898.1:c.5064+48_5064+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407899.1:c.5064+48_5064+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407900.1:c.5064+48_5064+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407902.1:c.5064+48_5064+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407904.1:c.5064+48_5064+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407906.1:c.5064+48_5064+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407907.1:c.5064+48_5064+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407908.1:c.5064+48_5064+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407909.1:c.5064+48_5064+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407910.1:c.5064+48_5064+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407915.1:c.5061+48_5061+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407916.1:c.5061+48_5061+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407917.1:c.5061+48_5061+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407918.1:c.5061+48_5061+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407919.1:c.5154+48_5154+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407920.1:c.5013+48_5013+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407921.1:c.5013+48_5013+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407922.1:c.5013+48_5013+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407923.1:c.5013+48_5013+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407924.1:c.5013+48_5013+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407925.1:c.5013+48_5013+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407926.1:c.5013+48_5013+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407927.1:c.5010+48_5010+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407928.1:c.5010+48_5010+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407929.1:c.5010+48_5010+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407930.1:c.5010+48_5010+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407931.1:c.5010+48_5010+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407932.1:c.5010+48_5010+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407933.1:c.5010+48_5010+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407934.1:c.5007+48_5007+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407935.1:c.5007+48_5007+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407936.1:c.5007+48_5007+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407937.1:c.5154+48_5154+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407938.1:c.5154+48_5154+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407939.1:c.5151+48_5151+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407940.1:c.5151+48_5151+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407941.1:c.5148+48_5148+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407942.1:c.5136+48_5136+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407943.1:c.5133+48_5133+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407944.1:c.5133+48_5133+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407945.1:c.5133+48_5133+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407946.1:c.4944+48_4944+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407947.1:c.4944+48_4944+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407948.1:c.4944+48_4944+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407949.1:c.4944+48_4944+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407950.1:c.4941+48_4941+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407951.1:c.4941+48_4941+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407952.1:c.4941+48_4941+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407953.1:c.4941+48_4941+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407954.1:c.4941+48_4941+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407955.1:c.4941+48_4941+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407956.1:c.4938+48_4938+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407957.1:c.4938+48_4938+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407958.1:c.4938+48_4938+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407959.1:c.4896+48_4896+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407960.1:c.4893+48_4893+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407962.1:c.4893+48_4893+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407963.1:c.4890+48_4890+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407964.1:c.4815+48_4815+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407965.1:c.4770+48_4770+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407966.1:c.4389+48_4389+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407967.1:c.4386+48_4386+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407968.1:c.2673+48_2673+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.2670+48_2670+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.2034+48_2034+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.2034+48_2034+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.2031+48_2031+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.1968+48_1968+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.1968+48_1968+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.1968+48_1968+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.1968+48_1968+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.1968+48_1968+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.1968+48_1968+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.1965+48_1965+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.1965+48_1965+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.1965+48_1965+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.1965+48_1965+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.1965+48_1965+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.1965+48_1965+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.1965+48_1965+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.1965+48_1965+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.1965+48_1965+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.1965+48_1965+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.1965+48_1965+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.1965+48_1965+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.1962+48_1962+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.1962+48_1962+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.1962+48_1962+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.1962+48_1962+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.1962+48_1962+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.1962+48_1962+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.1962+48_1962+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.1962+48_1962+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.1962+48_1962+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.1962+48_1962+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.1959+48_1959+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.1959+48_1959+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.1959+48_1959+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.1956+48_1956+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.1893+48_1893+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.1890+48_1890+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.1887+48_1887+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.1887+48_1887+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.1887+48_1887+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.1887+48_1887+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.1887+48_1887+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.1851+48_1851+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.1851+48_1851+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.1851+48_1851+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.1848+48_1848+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.1848+48_1848+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.1848+48_1848+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.1848+48_1848+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.1845+48_1845+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.1845+48_1845+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.1845+48_1845+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.1845+48_1845+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.1845+48_1845+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.1845+48_1845+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.1845+48_1845+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.1842+48_1842+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.1842+48_1842+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.1842+48_1842+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.1842+48_1842+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.1842+48_1842+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.1842+48_1842+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.1842+48_1842+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.1842+48_1842+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.1842+48_1842+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.1842+48_1842+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.1842+48_1842+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.1842+48_1842+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.1842+48_1842+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.1839+48_1839+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.1839+48_1839+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.1839+48_1839+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.1839+48_1839+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.1839+48_1839+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.1833+48_1833+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.1827+48_1827+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.1827+48_1827+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.1827+48_1827+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.1827+48_1827+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.1827+48_1827+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.1827+48_1827+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.1824+48_1824+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.1824+48_1824+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.1824+48_1824+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.1824+48_1824+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.1824+48_1824+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.1824+48_1824+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.1824+48_1824+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.1824+48_1824+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.1824+48_1824+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.1824+48_1824+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.1821+48_1821+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.1821+48_1821+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.1821+48_1821+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.1965+48_1965+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.1962+48_1962+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.1767+48_1767+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.1764+48_1764+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.1764+48_1764+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.1758+48_1758+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.1758+48_1758+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.1758+48_1758+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.1755+48_1755+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.1755+48_1755+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.1755+48_1755+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.1755+48_1755+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.1755+48_1755+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.1755+48_1755+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.1755+48_1755+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.1755+48_1755+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.1752+48_1752+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.1752+48_1752+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.1728+48_1728+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.1722+48_1722+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.1704+48_1704+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.1704+48_1704+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.1704+48_1704+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.1704+48_1704+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.1704+48_1704+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.1704+48_1704+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.1701+48_1701+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.1701+48_1701+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.1701+48_1701+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.1698+48_1698+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.1641+48_1641+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.1638+48_1638+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.1629+48_1629+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.1626+48_1626+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.1587+48_1587+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.1584+48_1584+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.1464+48_1464+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.1437+48_1437+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.1041+48_1041+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007294.4:c.5277+48_5277+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007297.4:c.5136+48_5136+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.1965+48_1965+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.1965+48_1965+59dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007300.4:c.5340+48_5340+59dup - intron variant - [Sequence Ontology: SO:0001627]
Observations:
9

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002044079GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely benign
(Jun 22, 2021) 		germlineclinical testing

Citation Link,

SCV004033561CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Likely benign
(Apr 1, 2024) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes9not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV002044079.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is associated with the following publications: (PMID: 18424508, 22366370, 7606717, 18489799, 8531967)

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

From CeGaT Center for Human Genetics Tuebingen, SCV004033561.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided9not providednot providedclinical testingnot provided

Description

BRCA1: BS3:Supporting, BS1

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided9not providednot providednot provided

Last Updated: Jun 17, 2024