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NM_007294.4(BRCA1):c.5193+1G>C AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 8, 2013
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000131171.10

Allele description [Variation Report for NM_007294.4(BRCA1):c.5193+1G>C]

NM_007294.4(BRCA1):c.5193+1G>C

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.5193+1G>C
Other names:
IVS19+1G>C
HGVS:
  • NC_000017.11:g.43063332C>G
  • NG_005905.2:g.154652G>C
  • NG_136614.1:g.454C>G
  • NM_001407571.1:c.4980+1G>C
  • NM_001407581.1:c.5259+1G>C
  • NM_001407582.1:c.5259+1G>C
  • NM_001407583.1:c.5256+1G>C
  • NM_001407585.1:c.5256+1G>C
  • NM_001407587.1:c.5256+1G>C
  • NM_001407590.1:c.5253+1G>C
  • NM_001407591.1:c.5253+1G>C
  • NM_001407593.1:c.5193+1G>C
  • NM_001407594.1:c.5193+1G>C
  • NM_001407596.1:c.5193+1G>C
  • NM_001407597.1:c.5193+1G>C
  • NM_001407598.1:c.5193+1G>C
  • NM_001407602.1:c.5193+1G>C
  • NM_001407603.1:c.5193+1G>C
  • NM_001407605.1:c.5193+1G>C
  • NM_001407610.1:c.5190+1G>C
  • NM_001407611.1:c.5190+1G>C
  • NM_001407612.1:c.5190+1G>C
  • NM_001407613.1:c.5190+1G>C
  • NM_001407614.1:c.5190+1G>C
  • NM_001407615.1:c.5190+1G>C
  • NM_001407616.1:c.5190+1G>C
  • NM_001407617.1:c.5190+1G>C
  • NM_001407618.1:c.5190+1G>C
  • NM_001407619.1:c.5190+1G>C
  • NM_001407620.1:c.5190+1G>C
  • NM_001407621.1:c.5190+1G>C
  • NM_001407622.1:c.5190+1G>C
  • NM_001407623.1:c.5190+1G>C
  • NM_001407624.1:c.5190+1G>C
  • NM_001407625.1:c.5190+1G>C
  • NM_001407626.1:c.5190+1G>C
  • NM_001407627.1:c.5187+1G>C
  • NM_001407628.1:c.5187+1G>C
  • NM_001407629.1:c.5187+1G>C
  • NM_001407630.1:c.5187+1G>C
  • NM_001407631.1:c.5187+1G>C
  • NM_001407632.1:c.5187+1G>C
  • NM_001407633.1:c.5187+1G>C
  • NM_001407634.1:c.5187+1G>C
  • NM_001407635.1:c.5187+1G>C
  • NM_001407636.1:c.5187+1G>C
  • NM_001407637.1:c.5187+1G>C
  • NM_001407638.1:c.5187+1G>C
  • NM_001407639.1:c.5187+1G>C
  • NM_001407640.1:c.5187+1G>C
  • NM_001407641.1:c.5187+1G>C
  • NM_001407642.1:c.5187+1G>C
  • NM_001407644.1:c.5184+1G>C
  • NM_001407645.1:c.5184+1G>C
  • NM_001407646.1:c.5181+1G>C
  • NM_001407647.1:c.5178+1G>C
  • NM_001407648.1:c.5136+1G>C
  • NM_001407649.1:c.5133+1G>C
  • NM_001407652.1:c.5115+1G>C
  • NM_001407653.1:c.5115+1G>C
  • NM_001407654.1:c.5115+1G>C
  • NM_001407655.1:c.5115+1G>C
  • NM_001407656.1:c.5112+1G>C
  • NM_001407657.1:c.5112+1G>C
  • NM_001407658.1:c.5112+1G>C
  • NM_001407659.1:c.5109+1G>C
  • NM_001407660.1:c.5109+1G>C
  • NM_001407661.1:c.5109+1G>C
  • NM_001407662.1:c.5109+1G>C
  • NM_001407663.1:c.5109+1G>C
  • NM_001407664.1:c.5070+1G>C
  • NM_001407665.1:c.5070+1G>C
  • NM_001407666.1:c.5070+1G>C
  • NM_001407667.1:c.5070+1G>C
  • NM_001407668.1:c.5070+1G>C
  • NM_001407669.1:c.5070+1G>C
  • NM_001407670.1:c.5067+1G>C
  • NM_001407671.1:c.5067+1G>C
  • NM_001407672.1:c.5067+1G>C
  • NM_001407673.1:c.5067+1G>C
  • NM_001407674.1:c.5067+1G>C
  • NM_001407675.1:c.5067+1G>C
  • NM_001407676.1:c.5067+1G>C
  • NM_001407677.1:c.5067+1G>C
  • NM_001407678.1:c.5067+1G>C
  • NM_001407679.1:c.5067+1G>C
  • NM_001407680.1:c.5067+1G>C
  • NM_001407681.1:c.5064+1G>C
  • NM_001407682.1:c.5064+1G>C
  • NM_001407683.1:c.5064+1G>C
  • NM_001407684.1:c.5193+1G>C
  • NM_001407685.1:c.5064+1G>C
  • NM_001407686.1:c.5064+1G>C
  • NM_001407687.1:c.5064+1G>C
  • NM_001407688.1:c.5064+1G>C
  • NM_001407689.1:c.5064+1G>C
  • NM_001407690.1:c.5061+1G>C
  • NM_001407691.1:c.5061+1G>C
  • NM_001407692.1:c.5052+1G>C
  • NM_001407694.1:c.5052+1G>C
  • NM_001407695.1:c.5052+1G>C
  • NM_001407696.1:c.5052+1G>C
  • NM_001407697.1:c.5052+1G>C
  • NM_001407698.1:c.5052+1G>C
  • NM_001407724.1:c.5052+1G>C
  • NM_001407725.1:c.5052+1G>C
  • NM_001407726.1:c.5052+1G>C
  • NM_001407727.1:c.5052+1G>C
  • NM_001407728.1:c.5052+1G>C
  • NM_001407729.1:c.5052+1G>C
  • NM_001407730.1:c.5052+1G>C
  • NM_001407731.1:c.5052+1G>C
  • NM_001407732.1:c.5049+1G>C
  • NM_001407733.1:c.5049+1G>C
  • NM_001407734.1:c.5049+1G>C
  • NM_001407735.1:c.5049+1G>C
  • NM_001407736.1:c.5049+1G>C
  • NM_001407737.1:c.5049+1G>C
  • NM_001407738.1:c.5049+1G>C
  • NM_001407739.1:c.5049+1G>C
  • NM_001407740.1:c.5049+1G>C
  • NM_001407741.1:c.5049+1G>C
  • NM_001407742.1:c.5049+1G>C
  • NM_001407743.1:c.5049+1G>C
  • NM_001407744.1:c.5049+1G>C
  • NM_001407745.1:c.5049+1G>C
  • NM_001407746.1:c.5049+1G>C
  • NM_001407747.1:c.5049+1G>C
  • NM_001407748.1:c.5049+1G>C
  • NM_001407749.1:c.5049+1G>C
  • NM_001407750.1:c.5049+1G>C
  • NM_001407751.1:c.5049+1G>C
  • NM_001407752.1:c.5049+1G>C
  • NM_001407838.1:c.5046+1G>C
  • NM_001407839.1:c.5046+1G>C
  • NM_001407841.1:c.5046+1G>C
  • NM_001407842.1:c.5046+1G>C
  • NM_001407843.1:c.5046+1G>C
  • NM_001407844.1:c.5046+1G>C
  • NM_001407845.1:c.5046+1G>C
  • NM_001407846.1:c.5046+1G>C
  • NM_001407847.1:c.5046+1G>C
  • NM_001407848.1:c.5046+1G>C
  • NM_001407849.1:c.5046+1G>C
  • NM_001407850.1:c.5046+1G>C
  • NM_001407851.1:c.5046+1G>C
  • NM_001407852.1:c.5046+1G>C
  • NM_001407853.1:c.5046+1G>C
  • NM_001407854.1:c.5193+1G>C
  • NM_001407858.1:c.5190+1G>C
  • NM_001407859.1:c.5190+1G>C
  • NM_001407860.1:c.5190+1G>C
  • NM_001407861.1:c.5187+1G>C
  • NM_001407862.1:c.4992+1G>C
  • NM_001407863.1:c.4989+1G>C
  • NM_001407874.1:c.4986+1G>C
  • NM_001407875.1:c.4986+1G>C
  • NM_001407879.1:c.4983+1G>C
  • NM_001407881.1:c.4983+1G>C
  • NM_001407882.1:c.4983+1G>C
  • NM_001407884.1:c.4983+1G>C
  • NM_001407885.1:c.4983+1G>C
  • NM_001407886.1:c.4983+1G>C
  • NM_001407887.1:c.4983+1G>C
  • NM_001407889.1:c.4983+1G>C
  • NM_001407894.1:c.4980+1G>C
  • NM_001407895.1:c.4980+1G>C
  • NM_001407896.1:c.4980+1G>C
  • NM_001407897.1:c.4980+1G>C
  • NM_001407898.1:c.4980+1G>C
  • NM_001407899.1:c.4980+1G>C
  • NM_001407900.1:c.4980+1G>C
  • NM_001407902.1:c.4980+1G>C
  • NM_001407904.1:c.4980+1G>C
  • NM_001407906.1:c.4980+1G>C
  • NM_001407907.1:c.4980+1G>C
  • NM_001407908.1:c.4980+1G>C
  • NM_001407909.1:c.4980+1G>C
  • NM_001407910.1:c.4980+1G>C
  • NM_001407915.1:c.4977+1G>C
  • NM_001407916.1:c.4977+1G>C
  • NM_001407917.1:c.4977+1G>C
  • NM_001407918.1:c.4977+1G>C
  • NM_001407919.1:c.5070+1G>C
  • NM_001407920.1:c.4929+1G>C
  • NM_001407921.1:c.4929+1G>C
  • NM_001407922.1:c.4929+1G>C
  • NM_001407923.1:c.4929+1G>C
  • NM_001407924.1:c.4929+1G>C
  • NM_001407925.1:c.4929+1G>C
  • NM_001407926.1:c.4929+1G>C
  • NM_001407927.1:c.4926+1G>C
  • NM_001407928.1:c.4926+1G>C
  • NM_001407929.1:c.4926+1G>C
  • NM_001407930.1:c.4926+1G>C
  • NM_001407931.1:c.4926+1G>C
  • NM_001407932.1:c.4926+1G>C
  • NM_001407933.1:c.4926+1G>C
  • NM_001407934.1:c.4923+1G>C
  • NM_001407935.1:c.4923+1G>C
  • NM_001407936.1:c.4923+1G>C
  • NM_001407937.1:c.5070+1G>C
  • NM_001407938.1:c.5070+1G>C
  • NM_001407939.1:c.5067+1G>C
  • NM_001407940.1:c.5067+1G>C
  • NM_001407941.1:c.5064+1G>C
  • NM_001407942.1:c.5052+1G>C
  • NM_001407943.1:c.5049+1G>C
  • NM_001407944.1:c.5049+1G>C
  • NM_001407945.1:c.5049+1G>C
  • NM_001407946.1:c.4860+1G>C
  • NM_001407947.1:c.4860+1G>C
  • NM_001407948.1:c.4860+1G>C
  • NM_001407949.1:c.4860+1G>C
  • NM_001407950.1:c.4857+1G>C
  • NM_001407951.1:c.4857+1G>C
  • NM_001407952.1:c.4857+1G>C
  • NM_001407953.1:c.4857+1G>C
  • NM_001407954.1:c.4857+1G>C
  • NM_001407955.1:c.4857+1G>C
  • NM_001407956.1:c.4854+1G>C
  • NM_001407957.1:c.4854+1G>C
  • NM_001407958.1:c.4854+1G>C
  • NM_001407959.1:c.4812+1G>C
  • NM_001407960.1:c.4809+1G>C
  • NM_001407962.1:c.4809+1G>C
  • NM_001407963.1:c.4806+1G>C
  • NM_001407964.1:c.4731+1G>C
  • NM_001407965.1:c.4686+1G>C
  • NM_001407966.1:c.4305+1G>C
  • NM_001407967.1:c.4302+1G>C
  • NM_001407968.1:c.2589+1G>C
  • NM_001407969.1:c.2586+1G>C
  • NM_001407970.1:c.1950+1G>C
  • NM_001407971.1:c.1950+1G>C
  • NM_001407972.1:c.1947+1G>C
  • NM_001407973.1:c.1884+1G>C
  • NM_001407974.1:c.1884+1G>C
  • NM_001407975.1:c.1884+1G>C
  • NM_001407976.1:c.1884+1G>C
  • NM_001407977.1:c.1884+1G>C
  • NM_001407978.1:c.1884+1G>C
  • NM_001407979.1:c.1881+1G>C
  • NM_001407980.1:c.1881+1G>C
  • NM_001407981.1:c.1881+1G>C
  • NM_001407982.1:c.1881+1G>C
  • NM_001407983.1:c.1881+1G>C
  • NM_001407984.1:c.1881+1G>C
  • NM_001407985.1:c.1881+1G>C
  • NM_001407986.1:c.1881+1G>C
  • NM_001407990.1:c.1881+1G>C
  • NM_001407991.1:c.1881+1G>C
  • NM_001407992.1:c.1881+1G>C
  • NM_001407993.1:c.1881+1G>C
  • NM_001408392.1:c.1878+1G>C
  • NM_001408396.1:c.1878+1G>C
  • NM_001408397.1:c.1878+1G>C
  • NM_001408398.1:c.1878+1G>C
  • NM_001408399.1:c.1878+1G>C
  • NM_001408400.1:c.1878+1G>C
  • NM_001408401.1:c.1878+1G>C
  • NM_001408402.1:c.1878+1G>C
  • NM_001408403.1:c.1878+1G>C
  • NM_001408404.1:c.1878+1G>C
  • NM_001408406.1:c.1875+1G>C
  • NM_001408407.1:c.1875+1G>C
  • NM_001408408.1:c.1875+1G>C
  • NM_001408409.1:c.1872+1G>C
  • NM_001408410.1:c.1809+1G>C
  • NM_001408411.1:c.1806+1G>C
  • NM_001408412.1:c.1803+1G>C
  • NM_001408413.1:c.1803+1G>C
  • NM_001408414.1:c.1803+1G>C
  • NM_001408415.1:c.1803+1G>C
  • NM_001408416.1:c.1803+1G>C
  • NM_001408418.1:c.1767+1G>C
  • NM_001408419.1:c.1767+1G>C
  • NM_001408420.1:c.1767+1G>C
  • NM_001408421.1:c.1764+1G>C
  • NM_001408422.1:c.1764+1G>C
  • NM_001408423.1:c.1764+1G>C
  • NM_001408424.1:c.1764+1G>C
  • NM_001408425.1:c.1761+1G>C
  • NM_001408426.1:c.1761+1G>C
  • NM_001408427.1:c.1761+1G>C
  • NM_001408428.1:c.1761+1G>C
  • NM_001408429.1:c.1761+1G>C
  • NM_001408430.1:c.1761+1G>C
  • NM_001408431.1:c.1761+1G>C
  • NM_001408432.1:c.1758+1G>C
  • NM_001408433.1:c.1758+1G>C
  • NM_001408434.1:c.1758+1G>C
  • NM_001408435.1:c.1758+1G>C
  • NM_001408436.1:c.1758+1G>C
  • NM_001408437.1:c.1758+1G>C
  • NM_001408438.1:c.1758+1G>C
  • NM_001408439.1:c.1758+1G>C
  • NM_001408440.1:c.1758+1G>C
  • NM_001408441.1:c.1758+1G>C
  • NM_001408442.1:c.1758+1G>C
  • NM_001408443.1:c.1758+1G>C
  • NM_001408444.1:c.1758+1G>C
  • NM_001408445.1:c.1755+1G>C
  • NM_001408446.1:c.1755+1G>C
  • NM_001408447.1:c.1755+1G>C
  • NM_001408448.1:c.1755+1G>C
  • NM_001408450.1:c.1755+1G>C
  • NM_001408451.1:c.1749+1G>C
  • NM_001408452.1:c.1743+1G>C
  • NM_001408453.1:c.1743+1G>C
  • NM_001408454.1:c.1743+1G>C
  • NM_001408455.1:c.1743+1G>C
  • NM_001408456.1:c.1743+1G>C
  • NM_001408457.1:c.1743+1G>C
  • NM_001408458.1:c.1740+1G>C
  • NM_001408459.1:c.1740+1G>C
  • NM_001408460.1:c.1740+1G>C
  • NM_001408461.1:c.1740+1G>C
  • NM_001408462.1:c.1740+1G>C
  • NM_001408463.1:c.1740+1G>C
  • NM_001408464.1:c.1740+1G>C
  • NM_001408465.1:c.1740+1G>C
  • NM_001408466.1:c.1740+1G>C
  • NM_001408467.1:c.1740+1G>C
  • NM_001408468.1:c.1737+1G>C
  • NM_001408469.1:c.1737+1G>C
  • NM_001408470.1:c.1737+1G>C
  • NM_001408472.1:c.1881+1G>C
  • NM_001408473.1:c.1878+1G>C
  • NM_001408474.1:c.1683+1G>C
  • NM_001408475.1:c.1680+1G>C
  • NM_001408476.1:c.1680+1G>C
  • NM_001408478.1:c.1674+1G>C
  • NM_001408479.1:c.1674+1G>C
  • NM_001408480.1:c.1674+1G>C
  • NM_001408481.1:c.1671+1G>C
  • NM_001408482.1:c.1671+1G>C
  • NM_001408483.1:c.1671+1G>C
  • NM_001408484.1:c.1671+1G>C
  • NM_001408485.1:c.1671+1G>C
  • NM_001408489.1:c.1671+1G>C
  • NM_001408490.1:c.1671+1G>C
  • NM_001408491.1:c.1671+1G>C
  • NM_001408492.1:c.1668+1G>C
  • NM_001408493.1:c.1668+1G>C
  • NM_001408494.1:c.1644+1G>C
  • NM_001408495.1:c.1638+1G>C
  • NM_001408496.1:c.1620+1G>C
  • NM_001408497.1:c.1620+1G>C
  • NM_001408498.1:c.1620+1G>C
  • NM_001408499.1:c.1620+1G>C
  • NM_001408500.1:c.1620+1G>C
  • NM_001408501.1:c.1620+1G>C
  • NM_001408502.1:c.1617+1G>C
  • NM_001408503.1:c.1617+1G>C
  • NM_001408504.1:c.1617+1G>C
  • NM_001408505.1:c.1614+1G>C
  • NM_001408506.1:c.1557+1G>C
  • NM_001408507.1:c.1554+1G>C
  • NM_001408508.1:c.1545+1G>C
  • NM_001408509.1:c.1542+1G>C
  • NM_001408510.1:c.1503+1G>C
  • NM_001408511.1:c.1500+1G>C
  • NM_001408512.1:c.1380+1G>C
  • NM_001408513.1:c.1353+1G>C
  • NM_001408514.1:c.957+1G>C
  • NM_007294.4:c.5193+1G>CMANE SELECT
  • NM_007297.4:c.5052+1G>C
  • NM_007298.4:c.1881+1G>C
  • NM_007299.4:c.1881+1G>C
  • NM_007300.4:c.5256+1G>C
  • LRG_292t1:c.5193+1G>C
  • LRG_292:g.154652G>C
  • NC_000017.10:g.41215349C>G
  • NM_007294.3:c.5193+1G>C
  • U14680.1:n.5312+1G>C
Links:
Breast Cancer Information Core (BIC) (BRCA1): 5312+1&base_change=G to C; dbSNP: rs80358004
NCBI 1000 Genomes Browser:
rs80358004
Molecular consequence:
  • NM_001407571.1:c.4980+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407581.1:c.5259+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407582.1:c.5259+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407583.1:c.5256+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407585.1:c.5256+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407587.1:c.5256+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407590.1:c.5253+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407591.1:c.5253+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407593.1:c.5193+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407594.1:c.5193+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407596.1:c.5193+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407597.1:c.5193+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407598.1:c.5193+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407602.1:c.5193+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407603.1:c.5193+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407605.1:c.5193+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407610.1:c.5190+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407611.1:c.5190+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407612.1:c.5190+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407613.1:c.5190+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407614.1:c.5190+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407615.1:c.5190+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407616.1:c.5190+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407617.1:c.5190+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407618.1:c.5190+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407619.1:c.5190+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407620.1:c.5190+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407621.1:c.5190+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407622.1:c.5190+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407623.1:c.5190+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407624.1:c.5190+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407625.1:c.5190+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407626.1:c.5190+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407627.1:c.5187+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407628.1:c.5187+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407629.1:c.5187+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407630.1:c.5187+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407631.1:c.5187+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407632.1:c.5187+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407633.1:c.5187+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407634.1:c.5187+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407635.1:c.5187+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407636.1:c.5187+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407637.1:c.5187+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407638.1:c.5187+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407639.1:c.5187+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407640.1:c.5187+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407641.1:c.5187+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407642.1:c.5187+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407644.1:c.5184+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407645.1:c.5184+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407646.1:c.5181+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407647.1:c.5178+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407648.1:c.5136+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407649.1:c.5133+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407652.1:c.5115+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407653.1:c.5115+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407654.1:c.5115+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407655.1:c.5115+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407656.1:c.5112+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407657.1:c.5112+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407658.1:c.5112+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407659.1:c.5109+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407660.1:c.5109+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407661.1:c.5109+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407662.1:c.5109+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407663.1:c.5109+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407664.1:c.5070+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407665.1:c.5070+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407666.1:c.5070+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407667.1:c.5070+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407668.1:c.5070+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407669.1:c.5070+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407670.1:c.5067+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407671.1:c.5067+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407672.1:c.5067+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407673.1:c.5067+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407674.1:c.5067+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407675.1:c.5067+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407676.1:c.5067+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407677.1:c.5067+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407678.1:c.5067+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407679.1:c.5067+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407680.1:c.5067+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407681.1:c.5064+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407682.1:c.5064+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407683.1:c.5064+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407684.1:c.5193+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407685.1:c.5064+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407686.1:c.5064+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407687.1:c.5064+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407688.1:c.5064+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407689.1:c.5064+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407690.1:c.5061+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407691.1:c.5061+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407692.1:c.5052+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407694.1:c.5052+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407695.1:c.5052+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407696.1:c.5052+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407697.1:c.5052+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407698.1:c.5052+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407724.1:c.5052+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407725.1:c.5052+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407726.1:c.5052+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407727.1:c.5052+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407728.1:c.5052+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407729.1:c.5052+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407730.1:c.5052+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407731.1:c.5052+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407732.1:c.5049+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407733.1:c.5049+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407734.1:c.5049+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407735.1:c.5049+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407736.1:c.5049+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407737.1:c.5049+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407738.1:c.5049+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407739.1:c.5049+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407740.1:c.5049+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407741.1:c.5049+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407742.1:c.5049+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407743.1:c.5049+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407744.1:c.5049+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407745.1:c.5049+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407746.1:c.5049+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407747.1:c.5049+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407748.1:c.5049+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407749.1:c.5049+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407750.1:c.5049+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407751.1:c.5049+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407752.1:c.5049+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407838.1:c.5046+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407839.1:c.5046+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407841.1:c.5046+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407842.1:c.5046+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407843.1:c.5046+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407844.1:c.5046+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407845.1:c.5046+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407846.1:c.5046+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407847.1:c.5046+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407848.1:c.5046+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407849.1:c.5046+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407850.1:c.5046+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407851.1:c.5046+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407852.1:c.5046+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407853.1:c.5046+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407854.1:c.5193+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407858.1:c.5190+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407859.1:c.5190+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407860.1:c.5190+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407861.1:c.5187+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407862.1:c.4992+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407863.1:c.4989+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407874.1:c.4986+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407875.1:c.4986+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407879.1:c.4983+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407881.1:c.4983+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407882.1:c.4983+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407884.1:c.4983+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407885.1:c.4983+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407886.1:c.4983+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407887.1:c.4983+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407889.1:c.4983+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407894.1:c.4980+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407895.1:c.4980+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407896.1:c.4980+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407897.1:c.4980+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407898.1:c.4980+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407899.1:c.4980+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407900.1:c.4980+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407902.1:c.4980+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407904.1:c.4980+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407906.1:c.4980+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407907.1:c.4980+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407908.1:c.4980+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407909.1:c.4980+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407910.1:c.4980+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407915.1:c.4977+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407916.1:c.4977+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407917.1:c.4977+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407918.1:c.4977+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407919.1:c.5070+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407920.1:c.4929+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407921.1:c.4929+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407922.1:c.4929+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407923.1:c.4929+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407924.1:c.4929+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407925.1:c.4929+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407926.1:c.4929+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407927.1:c.4926+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407928.1:c.4926+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407929.1:c.4926+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407930.1:c.4926+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407931.1:c.4926+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407932.1:c.4926+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407933.1:c.4926+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407934.1:c.4923+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407935.1:c.4923+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407936.1:c.4923+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407937.1:c.5070+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407938.1:c.5070+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407939.1:c.5067+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407940.1:c.5067+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407941.1:c.5064+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407942.1:c.5052+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407943.1:c.5049+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407944.1:c.5049+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407945.1:c.5049+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407946.1:c.4860+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407947.1:c.4860+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407948.1:c.4860+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407949.1:c.4860+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407950.1:c.4857+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407951.1:c.4857+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407952.1:c.4857+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407953.1:c.4857+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407954.1:c.4857+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407955.1:c.4857+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407956.1:c.4854+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407957.1:c.4854+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407958.1:c.4854+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407959.1:c.4812+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407960.1:c.4809+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407962.1:c.4809+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407963.1:c.4806+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407964.1:c.4731+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407965.1:c.4686+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407966.1:c.4305+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407967.1:c.4302+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407968.1:c.2589+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407969.1:c.2586+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407970.1:c.1950+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407971.1:c.1950+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407972.1:c.1947+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407973.1:c.1884+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407974.1:c.1884+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407975.1:c.1884+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407976.1:c.1884+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407977.1:c.1884+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407978.1:c.1884+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407979.1:c.1881+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407980.1:c.1881+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407981.1:c.1881+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407982.1:c.1881+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407983.1:c.1881+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407984.1:c.1881+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407985.1:c.1881+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407986.1:c.1881+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407990.1:c.1881+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407991.1:c.1881+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407992.1:c.1881+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407993.1:c.1881+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408392.1:c.1878+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408396.1:c.1878+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408397.1:c.1878+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408398.1:c.1878+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408399.1:c.1878+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408400.1:c.1878+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408401.1:c.1878+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408402.1:c.1878+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408403.1:c.1878+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408404.1:c.1878+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408406.1:c.1875+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408407.1:c.1875+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408408.1:c.1875+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408409.1:c.1872+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408410.1:c.1809+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408411.1:c.1806+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408412.1:c.1803+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408413.1:c.1803+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408414.1:c.1803+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408415.1:c.1803+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408416.1:c.1803+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408418.1:c.1767+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408419.1:c.1767+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408420.1:c.1767+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408421.1:c.1764+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408422.1:c.1764+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408423.1:c.1764+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408424.1:c.1764+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408425.1:c.1761+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408426.1:c.1761+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408427.1:c.1761+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408428.1:c.1761+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408429.1:c.1761+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408430.1:c.1761+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408431.1:c.1761+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408432.1:c.1758+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408433.1:c.1758+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408434.1:c.1758+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408435.1:c.1758+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408436.1:c.1758+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408437.1:c.1758+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408438.1:c.1758+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408439.1:c.1758+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408440.1:c.1758+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408441.1:c.1758+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408442.1:c.1758+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408443.1:c.1758+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408444.1:c.1758+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408445.1:c.1755+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408446.1:c.1755+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408447.1:c.1755+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408448.1:c.1755+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408450.1:c.1755+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408451.1:c.1749+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408452.1:c.1743+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408453.1:c.1743+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408454.1:c.1743+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408455.1:c.1743+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408456.1:c.1743+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408457.1:c.1743+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408458.1:c.1740+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408459.1:c.1740+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408460.1:c.1740+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408461.1:c.1740+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408462.1:c.1740+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408463.1:c.1740+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408464.1:c.1740+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408465.1:c.1740+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408466.1:c.1740+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408467.1:c.1740+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408468.1:c.1737+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408469.1:c.1737+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408470.1:c.1737+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408472.1:c.1881+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408473.1:c.1878+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408474.1:c.1683+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408475.1:c.1680+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408476.1:c.1680+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408478.1:c.1674+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408479.1:c.1674+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408480.1:c.1674+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408481.1:c.1671+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408482.1:c.1671+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408483.1:c.1671+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408484.1:c.1671+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408485.1:c.1671+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408489.1:c.1671+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408490.1:c.1671+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408491.1:c.1671+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408492.1:c.1668+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408493.1:c.1668+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408494.1:c.1644+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408495.1:c.1638+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408496.1:c.1620+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408497.1:c.1620+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408498.1:c.1620+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408499.1:c.1620+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408500.1:c.1620+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408501.1:c.1620+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408502.1:c.1617+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408503.1:c.1617+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408504.1:c.1617+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408505.1:c.1614+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408506.1:c.1557+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408507.1:c.1554+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408508.1:c.1545+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408509.1:c.1542+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408510.1:c.1503+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408511.1:c.1500+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408512.1:c.1380+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408513.1:c.1353+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408514.1:c.957+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007294.4:c.5193+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007297.4:c.5052+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007298.4:c.1881+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007299.4:c.1881+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007300.4:c.5256+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
Functional consequence:
functionally_abnormal [Sequence Ontology: SO:0002218] - Comment(s)
Observations:
1

Condition(s)

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000186117Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))		Pathogenic
(Jan 8, 2013) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000186117.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

In addition to the clinical data presented in the literature, alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. As such, this alteration is classified as a disease-causing mutation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Jun 2, 2024