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NM_007294.4(BRCA1):c.4987-40G>C AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Sep 1, 2023
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000112448.4

Allele description [Variation Report for NM_007294.4(BRCA1):c.4987-40G>C]

NM_007294.4(BRCA1):c.4987-40G>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.4987-40G>C
Other names:
IVS16-40G>C
HGVS:
  • NC_000017.11:g.43067735C>G
  • NG_005905.2:g.150249G>C
  • NM_001407571.1:c.4774-40G>C
  • NM_001407581.1:c.5053-40G>C
  • NM_001407582.1:c.5053-40G>C
  • NM_001407583.1:c.5050-40G>C
  • NM_001407585.1:c.5050-40G>C
  • NM_001407587.1:c.5050-40G>C
  • NM_001407590.1:c.5047-40G>C
  • NM_001407591.1:c.5047-40G>C
  • NM_001407593.1:c.4987-40G>C
  • NM_001407594.1:c.4987-40G>C
  • NM_001407596.1:c.4987-40G>C
  • NM_001407597.1:c.4987-40G>C
  • NM_001407598.1:c.4987-40G>C
  • NM_001407602.1:c.4987-40G>C
  • NM_001407603.1:c.4987-40G>C
  • NM_001407605.1:c.4987-40G>C
  • NM_001407610.1:c.4984-40G>C
  • NM_001407611.1:c.4984-40G>C
  • NM_001407612.1:c.4984-40G>C
  • NM_001407613.1:c.4984-40G>C
  • NM_001407614.1:c.4984-40G>C
  • NM_001407615.1:c.4984-40G>C
  • NM_001407616.1:c.4984-40G>C
  • NM_001407617.1:c.4984-40G>C
  • NM_001407618.1:c.4984-40G>C
  • NM_001407619.1:c.4984-40G>C
  • NM_001407620.1:c.4984-40G>C
  • NM_001407621.1:c.4984-40G>C
  • NM_001407622.1:c.4984-40G>C
  • NM_001407623.1:c.4984-40G>C
  • NM_001407624.1:c.4984-40G>C
  • NM_001407625.1:c.4984-40G>C
  • NM_001407626.1:c.4984-40G>C
  • NM_001407627.1:c.4981-40G>C
  • NM_001407628.1:c.4981-40G>C
  • NM_001407629.1:c.4981-40G>C
  • NM_001407630.1:c.4981-40G>C
  • NM_001407631.1:c.4981-40G>C
  • NM_001407632.1:c.4981-40G>C
  • NM_001407633.1:c.4981-40G>C
  • NM_001407634.1:c.4981-40G>C
  • NM_001407635.1:c.4981-40G>C
  • NM_001407636.1:c.4981-40G>C
  • NM_001407637.1:c.4981-40G>C
  • NM_001407638.1:c.4981-40G>C
  • NM_001407639.1:c.4981-40G>C
  • NM_001407640.1:c.4981-40G>C
  • NM_001407641.1:c.4981-40G>C
  • NM_001407642.1:c.4981-40G>C
  • NM_001407644.1:c.4978-40G>C
  • NM_001407645.1:c.4978-40G>C
  • NM_001407646.1:c.4975-40G>C
  • NM_001407647.1:c.4972-40G>C
  • NM_001407648.1:c.4930-40G>C
  • NM_001407649.1:c.4927-40G>C
  • NM_001407652.1:c.4987-40G>C
  • NM_001407653.1:c.4909-40G>C
  • NM_001407654.1:c.4909-40G>C
  • NM_001407655.1:c.4909-40G>C
  • NM_001407656.1:c.4906-40G>C
  • NM_001407657.1:c.4906-40G>C
  • NM_001407658.1:c.4906-40G>C
  • NM_001407659.1:c.4903-40G>C
  • NM_001407660.1:c.4903-40G>C
  • NM_001407661.1:c.4903-40G>C
  • NM_001407662.1:c.4903-40G>C
  • NM_001407663.1:c.4903-40G>C
  • NM_001407664.1:c.4864-40G>C
  • NM_001407665.1:c.4864-40G>C
  • NM_001407666.1:c.4864-40G>C
  • NM_001407667.1:c.4864-40G>C
  • NM_001407668.1:c.4864-40G>C
  • NM_001407669.1:c.4864-40G>C
  • NM_001407670.1:c.4861-40G>C
  • NM_001407671.1:c.4861-40G>C
  • NM_001407672.1:c.4861-40G>C
  • NM_001407673.1:c.4861-40G>C
  • NM_001407674.1:c.4861-40G>C
  • NM_001407675.1:c.4861-40G>C
  • NM_001407676.1:c.4861-40G>C
  • NM_001407677.1:c.4861-40G>C
  • NM_001407678.1:c.4861-40G>C
  • NM_001407679.1:c.4861-40G>C
  • NM_001407680.1:c.4861-40G>C
  • NM_001407681.1:c.4858-40G>C
  • NM_001407682.1:c.4858-40G>C
  • NM_001407683.1:c.4858-40G>C
  • NM_001407684.1:c.4987-40G>C
  • NM_001407685.1:c.4858-40G>C
  • NM_001407686.1:c.4858-40G>C
  • NM_001407687.1:c.4858-40G>C
  • NM_001407688.1:c.4858-40G>C
  • NM_001407689.1:c.4858-40G>C
  • NM_001407690.1:c.4855-40G>C
  • NM_001407691.1:c.4855-40G>C
  • NM_001407692.1:c.4846-40G>C
  • NM_001407694.1:c.4846-40G>C
  • NM_001407695.1:c.4846-40G>C
  • NM_001407696.1:c.4846-40G>C
  • NM_001407697.1:c.4846-40G>C
  • NM_001407698.1:c.4846-40G>C
  • NM_001407724.1:c.4846-40G>C
  • NM_001407725.1:c.4846-40G>C
  • NM_001407726.1:c.4846-40G>C
  • NM_001407727.1:c.4846-40G>C
  • NM_001407728.1:c.4846-40G>C
  • NM_001407729.1:c.4846-40G>C
  • NM_001407730.1:c.4846-40G>C
  • NM_001407731.1:c.4846-40G>C
  • NM_001407732.1:c.4843-40G>C
  • NM_001407733.1:c.4843-40G>C
  • NM_001407734.1:c.4843-40G>C
  • NM_001407735.1:c.4843-40G>C
  • NM_001407736.1:c.4843-40G>C
  • NM_001407737.1:c.4843-40G>C
  • NM_001407738.1:c.4843-40G>C
  • NM_001407739.1:c.4843-40G>C
  • NM_001407740.1:c.4843-40G>C
  • NM_001407741.1:c.4843-40G>C
  • NM_001407742.1:c.4843-40G>C
  • NM_001407743.1:c.4843-40G>C
  • NM_001407744.1:c.4843-40G>C
  • NM_001407745.1:c.4843-40G>C
  • NM_001407746.1:c.4843-40G>C
  • NM_001407747.1:c.4843-40G>C
  • NM_001407748.1:c.4843-40G>C
  • NM_001407749.1:c.4843-40G>C
  • NM_001407750.1:c.4843-40G>C
  • NM_001407751.1:c.4843-40G>C
  • NM_001407752.1:c.4843-40G>C
  • NM_001407838.1:c.4840-40G>C
  • NM_001407839.1:c.4840-40G>C
  • NM_001407841.1:c.4840-40G>C
  • NM_001407842.1:c.4840-40G>C
  • NM_001407843.1:c.4840-40G>C
  • NM_001407844.1:c.4840-40G>C
  • NM_001407845.1:c.4840-40G>C
  • NM_001407846.1:c.4840-40G>C
  • NM_001407847.1:c.4840-40G>C
  • NM_001407848.1:c.4840-40G>C
  • NM_001407849.1:c.4840-40G>C
  • NM_001407850.1:c.4840-40G>C
  • NM_001407851.1:c.4840-40G>C
  • NM_001407852.1:c.4840-40G>C
  • NM_001407853.1:c.4840-40G>C
  • NM_001407854.1:c.4987-40G>C
  • NM_001407858.1:c.4984-40G>C
  • NM_001407859.1:c.4984-40G>C
  • NM_001407860.1:c.4984-40G>C
  • NM_001407861.1:c.4981-40G>C
  • NM_001407862.1:c.4786-40G>C
  • NM_001407863.1:c.4861-40G>C
  • NM_001407874.1:c.4780-40G>C
  • NM_001407875.1:c.4780-40G>C
  • NM_001407879.1:c.4777-40G>C
  • NM_001407881.1:c.4777-40G>C
  • NM_001407882.1:c.4777-40G>C
  • NM_001407884.1:c.4777-40G>C
  • NM_001407885.1:c.4777-40G>C
  • NM_001407886.1:c.4777-40G>C
  • NM_001407887.1:c.4777-40G>C
  • NM_001407889.1:c.4777-40G>C
  • NM_001407894.1:c.4774-40G>C
  • NM_001407895.1:c.4774-40G>C
  • NM_001407896.1:c.4774-40G>C
  • NM_001407897.1:c.4774-40G>C
  • NM_001407898.1:c.4774-40G>C
  • NM_001407899.1:c.4774-40G>C
  • NM_001407900.1:c.4774-40G>C
  • NM_001407902.1:c.4774-40G>C
  • NM_001407904.1:c.4774-40G>C
  • NM_001407906.1:c.4774-40G>C
  • NM_001407907.1:c.4774-40G>C
  • NM_001407908.1:c.4774-40G>C
  • NM_001407909.1:c.4774-40G>C
  • NM_001407910.1:c.4774-40G>C
  • NM_001407915.1:c.4771-40G>C
  • NM_001407916.1:c.4771-40G>C
  • NM_001407917.1:c.4771-40G>C
  • NM_001407918.1:c.4771-40G>C
  • NM_001407919.1:c.4864-40G>C
  • NM_001407920.1:c.4723-40G>C
  • NM_001407921.1:c.4723-40G>C
  • NM_001407922.1:c.4723-40G>C
  • NM_001407923.1:c.4723-40G>C
  • NM_001407924.1:c.4723-40G>C
  • NM_001407925.1:c.4723-40G>C
  • NM_001407926.1:c.4723-40G>C
  • NM_001407927.1:c.4720-40G>C
  • NM_001407928.1:c.4720-40G>C
  • NM_001407929.1:c.4720-40G>C
  • NM_001407930.1:c.4720-40G>C
  • NM_001407931.1:c.4720-40G>C
  • NM_001407932.1:c.4720-40G>C
  • NM_001407933.1:c.4720-40G>C
  • NM_001407934.1:c.4717-40G>C
  • NM_001407935.1:c.4717-40G>C
  • NM_001407936.1:c.4717-40G>C
  • NM_001407937.1:c.4864-40G>C
  • NM_001407938.1:c.4864-40G>C
  • NM_001407939.1:c.4861-40G>C
  • NM_001407940.1:c.4861-40G>C
  • NM_001407941.1:c.4858-40G>C
  • NM_001407942.1:c.4846-40G>C
  • NM_001407943.1:c.4843-40G>C
  • NM_001407944.1:c.4843-40G>C
  • NM_001407945.1:c.4843-40G>C
  • NM_001407946.1:c.4654-40G>C
  • NM_001407947.1:c.4654-40G>C
  • NM_001407948.1:c.4654-40G>C
  • NM_001407949.1:c.4654-40G>C
  • NM_001407950.1:c.4651-40G>C
  • NM_001407951.1:c.4651-40G>C
  • NM_001407952.1:c.4651-40G>C
  • NM_001407953.1:c.4651-40G>C
  • NM_001407954.1:c.4651-40G>C
  • NM_001407955.1:c.4651-40G>C
  • NM_001407956.1:c.4648-40G>C
  • NM_001407957.1:c.4648-40G>C
  • NM_001407958.1:c.4648-40G>C
  • NM_001407959.1:c.4606-40G>C
  • NM_001407960.1:c.4603-40G>C
  • NM_001407962.1:c.4603-40G>C
  • NM_001407963.1:c.4600-40G>C
  • NM_001407964.1:c.4525-40G>C
  • NM_001407965.1:c.4480-40G>C
  • NM_001407966.1:c.4099-40G>C
  • NM_001407967.1:c.4096-40G>C
  • NM_001407968.1:c.2383-40G>C
  • NM_001407969.1:c.2380-40G>C
  • NM_001407970.1:c.1744-40G>C
  • NM_001407971.1:c.1744-40G>C
  • NM_001407972.1:c.1741-40G>C
  • NM_001407973.1:c.1678-40G>C
  • NM_001407974.1:c.1678-40G>C
  • NM_001407975.1:c.1678-40G>C
  • NM_001407976.1:c.1678-40G>C
  • NM_001407977.1:c.1678-40G>C
  • NM_001407978.1:c.1678-40G>C
  • NM_001407979.1:c.1675-40G>C
  • NM_001407980.1:c.1675-40G>C
  • NM_001407981.1:c.1675-40G>C
  • NM_001407982.1:c.1675-40G>C
  • NM_001407983.1:c.1675-40G>C
  • NM_001407984.1:c.1675-40G>C
  • NM_001407985.1:c.1675-40G>C
  • NM_001407986.1:c.1675-40G>C
  • NM_001407990.1:c.1675-40G>C
  • NM_001407991.1:c.1675-40G>C
  • NM_001407992.1:c.1675-40G>C
  • NM_001407993.1:c.1675-40G>C
  • NM_001408392.1:c.1672-40G>C
  • NM_001408396.1:c.1672-40G>C
  • NM_001408397.1:c.1672-40G>C
  • NM_001408398.1:c.1672-40G>C
  • NM_001408399.1:c.1672-40G>C
  • NM_001408400.1:c.1672-40G>C
  • NM_001408401.1:c.1672-40G>C
  • NM_001408402.1:c.1672-40G>C
  • NM_001408403.1:c.1672-40G>C
  • NM_001408404.1:c.1672-40G>C
  • NM_001408406.1:c.1669-40G>C
  • NM_001408407.1:c.1669-40G>C
  • NM_001408408.1:c.1669-40G>C
  • NM_001408409.1:c.1666-40G>C
  • NM_001408410.1:c.1603-40G>C
  • NM_001408411.1:c.1600-40G>C
  • NM_001408412.1:c.1597-40G>C
  • NM_001408413.1:c.1597-40G>C
  • NM_001408414.1:c.1597-40G>C
  • NM_001408415.1:c.1597-40G>C
  • NM_001408416.1:c.1597-40G>C
  • NM_001408418.1:c.1561-40G>C
  • NM_001408419.1:c.1561-40G>C
  • NM_001408420.1:c.1561-40G>C
  • NM_001408421.1:c.1558-40G>C
  • NM_001408422.1:c.1558-40G>C
  • NM_001408423.1:c.1558-40G>C
  • NM_001408424.1:c.1558-40G>C
  • NM_001408425.1:c.1555-40G>C
  • NM_001408426.1:c.1555-40G>C
  • NM_001408427.1:c.1555-40G>C
  • NM_001408428.1:c.1555-40G>C
  • NM_001408429.1:c.1555-40G>C
  • NM_001408430.1:c.1555-40G>C
  • NM_001408431.1:c.1555-40G>C
  • NM_001408432.1:c.1552-40G>C
  • NM_001408433.1:c.1552-40G>C
  • NM_001408434.1:c.1552-40G>C
  • NM_001408435.1:c.1552-40G>C
  • NM_001408436.1:c.1552-40G>C
  • NM_001408437.1:c.1552-40G>C
  • NM_001408438.1:c.1552-40G>C
  • NM_001408439.1:c.1552-40G>C
  • NM_001408440.1:c.1552-40G>C
  • NM_001408441.1:c.1552-40G>C
  • NM_001408442.1:c.1552-40G>C
  • NM_001408443.1:c.1552-40G>C
  • NM_001408444.1:c.1552-40G>C
  • NM_001408445.1:c.1549-40G>C
  • NM_001408446.1:c.1549-40G>C
  • NM_001408447.1:c.1549-40G>C
  • NM_001408448.1:c.1549-40G>C
  • NM_001408450.1:c.1549-40G>C
  • NM_001408451.1:c.1543-40G>C
  • NM_001408452.1:c.1537-40G>C
  • NM_001408453.1:c.1537-40G>C
  • NM_001408454.1:c.1537-40G>C
  • NM_001408455.1:c.1537-40G>C
  • NM_001408456.1:c.1537-40G>C
  • NM_001408457.1:c.1537-40G>C
  • NM_001408458.1:c.1534-40G>C
  • NM_001408459.1:c.1534-40G>C
  • NM_001408460.1:c.1534-40G>C
  • NM_001408461.1:c.1534-40G>C
  • NM_001408462.1:c.1534-40G>C
  • NM_001408463.1:c.1534-40G>C
  • NM_001408464.1:c.1534-40G>C
  • NM_001408465.1:c.1534-40G>C
  • NM_001408466.1:c.1534-40G>C
  • NM_001408467.1:c.1534-40G>C
  • NM_001408468.1:c.1531-40G>C
  • NM_001408469.1:c.1531-40G>C
  • NM_001408470.1:c.1531-40G>C
  • NM_001408472.1:c.1675-40G>C
  • NM_001408473.1:c.1672-40G>C
  • NM_001408474.1:c.1477-40G>C
  • NM_001408475.1:c.1474-40G>C
  • NM_001408476.1:c.1474-40G>C
  • NM_001408478.1:c.1468-40G>C
  • NM_001408479.1:c.1468-40G>C
  • NM_001408480.1:c.1468-40G>C
  • NM_001408481.1:c.1465-40G>C
  • NM_001408482.1:c.1465-40G>C
  • NM_001408483.1:c.1465-40G>C
  • NM_001408484.1:c.1465-40G>C
  • NM_001408485.1:c.1465-40G>C
  • NM_001408489.1:c.1465-40G>C
  • NM_001408490.1:c.1465-40G>C
  • NM_001408491.1:c.1465-40G>C
  • NM_001408492.1:c.1462-40G>C
  • NM_001408493.1:c.1462-40G>C
  • NM_001408494.1:c.1438-40G>C
  • NM_001408495.1:c.1432-40G>C
  • NM_001408496.1:c.1414-40G>C
  • NM_001408497.1:c.1414-40G>C
  • NM_001408498.1:c.1414-40G>C
  • NM_001408499.1:c.1414-40G>C
  • NM_001408500.1:c.1414-40G>C
  • NM_001408501.1:c.1414-40G>C
  • NM_001408502.1:c.1411-40G>C
  • NM_001408503.1:c.1411-40G>C
  • NM_001408504.1:c.1411-40G>C
  • NM_001408505.1:c.1408-40G>C
  • NM_001408506.1:c.1351-40G>C
  • NM_001408507.1:c.1348-40G>C
  • NM_001408508.1:c.1339-40G>C
  • NM_001408509.1:c.1336-40G>C
  • NM_001408510.1:c.1297-40G>C
  • NM_001408511.1:c.1294-40G>C
  • NM_001408512.1:c.1174-40G>C
  • NM_001408513.1:c.1147-40G>C
  • NM_001408514.1:c.839-3784G>C
  • NM_007294.4:c.4987-40G>CMANE SELECT
  • NM_007297.4:c.4846-40G>C
  • NM_007298.4:c.1675-40G>C
  • NM_007299.4:c.1675-40G>C
  • NM_007300.4:c.5050-40G>C
  • LRG_292:g.150249G>C
  • NC_000017.10:g.41219752C>G
  • U14680.1:n.5106-40G>C
Links:
Breast Cancer Information Core (BIC) (BRCA1): 5106-40&base_change=G to C; dbSNP: rs80358056
NCBI 1000 Genomes Browser:
rs80358056
Molecular consequence:
  • NM_001407571.1:c.4774-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407581.1:c.5053-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407582.1:c.5053-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407583.1:c.5050-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407585.1:c.5050-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407587.1:c.5050-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407590.1:c.5047-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407591.1:c.5047-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407593.1:c.4987-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407594.1:c.4987-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407596.1:c.4987-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407597.1:c.4987-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407598.1:c.4987-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407602.1:c.4987-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407603.1:c.4987-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407605.1:c.4987-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407610.1:c.4984-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407611.1:c.4984-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407612.1:c.4984-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407613.1:c.4984-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407614.1:c.4984-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407615.1:c.4984-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407616.1:c.4984-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407617.1:c.4984-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407618.1:c.4984-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407619.1:c.4984-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407620.1:c.4984-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407621.1:c.4984-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407622.1:c.4984-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407623.1:c.4984-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407624.1:c.4984-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407625.1:c.4984-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407626.1:c.4984-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407627.1:c.4981-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407628.1:c.4981-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407629.1:c.4981-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407630.1:c.4981-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407631.1:c.4981-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407632.1:c.4981-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407633.1:c.4981-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407634.1:c.4981-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407635.1:c.4981-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407636.1:c.4981-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407637.1:c.4981-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407638.1:c.4981-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407639.1:c.4981-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407640.1:c.4981-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407641.1:c.4981-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407642.1:c.4981-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407644.1:c.4978-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407645.1:c.4978-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407646.1:c.4975-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407647.1:c.4972-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407648.1:c.4930-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407649.1:c.4927-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407652.1:c.4987-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407653.1:c.4909-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407654.1:c.4909-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407655.1:c.4909-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407656.1:c.4906-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407657.1:c.4906-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407658.1:c.4906-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407659.1:c.4903-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407660.1:c.4903-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407661.1:c.4903-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407662.1:c.4903-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407663.1:c.4903-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407664.1:c.4864-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407665.1:c.4864-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407666.1:c.4864-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407667.1:c.4864-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407668.1:c.4864-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407669.1:c.4864-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407670.1:c.4861-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407671.1:c.4861-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407672.1:c.4861-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407673.1:c.4861-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407674.1:c.4861-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407675.1:c.4861-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407676.1:c.4861-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407677.1:c.4861-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407678.1:c.4861-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407679.1:c.4861-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407680.1:c.4861-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407681.1:c.4858-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407682.1:c.4858-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407683.1:c.4858-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407684.1:c.4987-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407685.1:c.4858-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407686.1:c.4858-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407687.1:c.4858-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407688.1:c.4858-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407689.1:c.4858-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407690.1:c.4855-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407691.1:c.4855-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407692.1:c.4846-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407694.1:c.4846-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407695.1:c.4846-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407696.1:c.4846-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407697.1:c.4846-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407698.1:c.4846-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407724.1:c.4846-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407725.1:c.4846-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407726.1:c.4846-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407727.1:c.4846-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407728.1:c.4846-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407729.1:c.4846-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407730.1:c.4846-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407731.1:c.4846-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407732.1:c.4843-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407733.1:c.4843-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407734.1:c.4843-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407735.1:c.4843-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407736.1:c.4843-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407737.1:c.4843-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407738.1:c.4843-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407739.1:c.4843-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407740.1:c.4843-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407741.1:c.4843-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407742.1:c.4843-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407743.1:c.4843-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407744.1:c.4843-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407745.1:c.4843-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407746.1:c.4843-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407747.1:c.4843-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407748.1:c.4843-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407749.1:c.4843-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407750.1:c.4843-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407751.1:c.4843-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407752.1:c.4843-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407838.1:c.4840-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407839.1:c.4840-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407841.1:c.4840-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407842.1:c.4840-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407843.1:c.4840-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407844.1:c.4840-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407845.1:c.4840-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407846.1:c.4840-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407847.1:c.4840-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407848.1:c.4840-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407849.1:c.4840-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407850.1:c.4840-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407851.1:c.4840-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407852.1:c.4840-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407853.1:c.4840-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407854.1:c.4987-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407858.1:c.4984-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407859.1:c.4984-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407860.1:c.4984-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407861.1:c.4981-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407862.1:c.4786-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407863.1:c.4861-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407874.1:c.4780-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407875.1:c.4780-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407879.1:c.4777-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407881.1:c.4777-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407882.1:c.4777-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407884.1:c.4777-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407885.1:c.4777-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407886.1:c.4777-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407887.1:c.4777-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407889.1:c.4777-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407894.1:c.4774-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407895.1:c.4774-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407896.1:c.4774-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407897.1:c.4774-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407898.1:c.4774-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407899.1:c.4774-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407900.1:c.4774-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407902.1:c.4774-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407904.1:c.4774-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407906.1:c.4774-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407907.1:c.4774-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407908.1:c.4774-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407909.1:c.4774-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407910.1:c.4774-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407915.1:c.4771-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407916.1:c.4771-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407917.1:c.4771-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407918.1:c.4771-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407919.1:c.4864-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407920.1:c.4723-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407921.1:c.4723-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407922.1:c.4723-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407923.1:c.4723-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407924.1:c.4723-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407925.1:c.4723-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407926.1:c.4723-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407927.1:c.4720-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407928.1:c.4720-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407929.1:c.4720-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407930.1:c.4720-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407931.1:c.4720-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407932.1:c.4720-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407933.1:c.4720-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407934.1:c.4717-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407935.1:c.4717-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407936.1:c.4717-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407937.1:c.4864-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407938.1:c.4864-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407939.1:c.4861-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407940.1:c.4861-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407941.1:c.4858-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407942.1:c.4846-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407943.1:c.4843-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407944.1:c.4843-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407945.1:c.4843-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407946.1:c.4654-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407947.1:c.4654-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407948.1:c.4654-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407949.1:c.4654-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407950.1:c.4651-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407951.1:c.4651-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407952.1:c.4651-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407953.1:c.4651-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407954.1:c.4651-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407955.1:c.4651-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407956.1:c.4648-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407957.1:c.4648-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407958.1:c.4648-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407959.1:c.4606-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407960.1:c.4603-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407962.1:c.4603-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407963.1:c.4600-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407964.1:c.4525-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407965.1:c.4480-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407966.1:c.4099-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407967.1:c.4096-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407968.1:c.2383-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.2380-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.1744-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.1744-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.1741-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.1678-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.1678-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.1678-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.1678-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.1678-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.1678-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.1675-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.1675-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.1675-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.1675-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.1675-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.1675-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.1675-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.1675-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.1675-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.1675-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.1675-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.1675-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.1672-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.1672-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.1672-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.1672-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.1672-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.1672-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.1672-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.1672-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.1672-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.1672-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.1669-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.1669-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.1669-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.1666-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.1603-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.1600-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.1597-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.1597-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.1597-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.1597-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.1597-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.1561-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.1561-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.1561-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.1558-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.1558-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.1558-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.1558-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.1555-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.1555-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.1555-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.1555-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.1555-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.1555-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.1555-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.1552-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.1552-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.1552-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.1552-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.1552-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.1552-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.1552-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.1552-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.1552-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.1552-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.1552-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.1552-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.1552-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.1549-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.1549-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.1549-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.1549-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.1549-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.1543-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.1537-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.1537-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.1537-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.1537-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.1537-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.1537-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.1534-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.1534-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.1534-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.1534-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.1534-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.1534-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.1534-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.1534-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.1534-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.1534-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.1531-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.1531-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.1531-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.1675-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.1672-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.1477-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.1474-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.1474-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.1468-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.1468-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.1468-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.1465-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.1465-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.1465-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.1465-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.1465-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.1465-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.1465-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.1465-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.1462-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.1462-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.1438-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.1432-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.1414-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.1414-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.1414-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.1414-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.1414-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.1414-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.1411-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.1411-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.1411-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.1408-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.1351-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.1348-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.1339-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.1336-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.1297-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.1294-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.1174-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.1147-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.839-3784G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007294.4:c.4987-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007297.4:c.4846-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.1675-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.1675-40G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007300.4:c.5050-40G>C - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000145244Breast Cancer Information Core (BIC) (BRCA1)
no assertion criteria provided
Uncertain significance
(Apr 12, 1999) 		germlineclinical testing

SCV004228363Department of Medical and Surgical Sciences, University of Bologna
no assertion criteria provided
Uncertain significance
(Sep 1, 2023) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA1), SCV000145244.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From Department of Medical and Surgical Sciences, University of Bologna, SCV004228363.1

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

Description

PM2(Supporting)+BP4(Supporting)+BP7(Supporting) according to ACMG/AMP classification guidelines specified for BRCA1 & BRCA2 (Classification Criteria V1.0.0 2023-09-08 - https://cspec.genome.network/cspec/ui/svi/affiliation/50087) (PMID: 38160042)

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

Last Updated: Oct 8, 2024