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NM_007294.4(BRCA1):c.5194-18G>T AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:
Likely benign (2 submissions)
Last evaluated:
Jun 1, 2016
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:
RCV000112557.5

Allele description [Variation Report for NM_007294.4(BRCA1):c.5194-18G>T]

NM_007294.4(BRCA1):c.5194-18G>T

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.5194-18G>T
Other names:
IVS19-18G>T
HGVS:
  • NC_000017.11:g.43057153C>A
  • NG_005905.2:g.160831G>T
  • NM_001407571.1:c.4981-18G>T
  • NM_001407581.1:c.5260-18G>T
  • NM_001407582.1:c.5260-18G>T
  • NM_001407583.1:c.5257-18G>T
  • NM_001407585.1:c.5257-18G>T
  • NM_001407587.1:c.5257-18G>T
  • NM_001407590.1:c.5254-18G>T
  • NM_001407591.1:c.5254-18G>T
  • NM_001407593.1:c.5194-18G>T
  • NM_001407594.1:c.5194-18G>T
  • NM_001407596.1:c.5194-18G>T
  • NM_001407597.1:c.5194-18G>T
  • NM_001407598.1:c.5194-18G>T
  • NM_001407602.1:c.5194-18G>T
  • NM_001407603.1:c.5194-18G>T
  • NM_001407605.1:c.5194-18G>T
  • NM_001407610.1:c.5191-18G>T
  • NM_001407611.1:c.5191-18G>T
  • NM_001407612.1:c.5191-18G>T
  • NM_001407613.1:c.5191-18G>T
  • NM_001407614.1:c.5191-18G>T
  • NM_001407615.1:c.5191-18G>T
  • NM_001407616.1:c.5191-18G>T
  • NM_001407617.1:c.5191-18G>T
  • NM_001407618.1:c.5191-18G>T
  • NM_001407619.1:c.5191-18G>T
  • NM_001407620.1:c.5191-18G>T
  • NM_001407621.1:c.5191-18G>T
  • NM_001407622.1:c.5191-18G>T
  • NM_001407623.1:c.5191-18G>T
  • NM_001407624.1:c.5191-18G>T
  • NM_001407625.1:c.5191-18G>T
  • NM_001407626.1:c.5191-18G>T
  • NM_001407627.1:c.5188-18G>T
  • NM_001407628.1:c.5188-18G>T
  • NM_001407629.1:c.5188-18G>T
  • NM_001407630.1:c.5188-18G>T
  • NM_001407631.1:c.5188-18G>T
  • NM_001407632.1:c.5188-18G>T
  • NM_001407633.1:c.5188-18G>T
  • NM_001407634.1:c.5188-18G>T
  • NM_001407635.1:c.5188-18G>T
  • NM_001407636.1:c.5188-18G>T
  • NM_001407637.1:c.5188-18G>T
  • NM_001407638.1:c.5188-18G>T
  • NM_001407639.1:c.5188-18G>T
  • NM_001407640.1:c.5188-18G>T
  • NM_001407641.1:c.5188-18G>T
  • NM_001407642.1:c.5188-18G>T
  • NM_001407644.1:c.5185-18G>T
  • NM_001407645.1:c.5185-18G>T
  • NM_001407646.1:c.5182-18G>T
  • NM_001407647.1:c.5179-18G>T
  • NM_001407648.1:c.5137-18G>T
  • NM_001407649.1:c.5134-18G>T
  • NM_001407652.1:c.5116-18G>T
  • NM_001407653.1:c.5116-18G>T
  • NM_001407654.1:c.5116-18G>T
  • NM_001407655.1:c.5116-18G>T
  • NM_001407656.1:c.5113-18G>T
  • NM_001407657.1:c.5113-18G>T
  • NM_001407658.1:c.5113-18G>T
  • NM_001407659.1:c.5110-18G>T
  • NM_001407660.1:c.5110-18G>T
  • NM_001407661.1:c.5110-18G>T
  • NM_001407662.1:c.5110-18G>T
  • NM_001407663.1:c.5110-18G>T
  • NM_001407664.1:c.5071-18G>T
  • NM_001407665.1:c.5071-18G>T
  • NM_001407666.1:c.5071-18G>T
  • NM_001407667.1:c.5071-18G>T
  • NM_001407668.1:c.5071-18G>T
  • NM_001407669.1:c.5071-18G>T
  • NM_001407670.1:c.5068-18G>T
  • NM_001407671.1:c.5068-18G>T
  • NM_001407672.1:c.5068-18G>T
  • NM_001407673.1:c.5068-18G>T
  • NM_001407674.1:c.5068-18G>T
  • NM_001407675.1:c.5068-18G>T
  • NM_001407676.1:c.5068-18G>T
  • NM_001407677.1:c.5068-18G>T
  • NM_001407678.1:c.5068-18G>T
  • NM_001407679.1:c.5068-18G>T
  • NM_001407680.1:c.5068-18G>T
  • NM_001407681.1:c.5065-18G>T
  • NM_001407682.1:c.5065-18G>T
  • NM_001407683.1:c.5065-18G>T
  • NM_001407684.1:c.5194-18G>T
  • NM_001407685.1:c.5065-18G>T
  • NM_001407686.1:c.5065-18G>T
  • NM_001407687.1:c.5065-18G>T
  • NM_001407688.1:c.5065-18G>T
  • NM_001407689.1:c.5065-18G>T
  • NM_001407690.1:c.5062-18G>T
  • NM_001407691.1:c.5062-18G>T
  • NM_001407692.1:c.5053-18G>T
  • NM_001407694.1:c.5053-18G>T
  • NM_001407695.1:c.5053-18G>T
  • NM_001407696.1:c.5053-18G>T
  • NM_001407697.1:c.5053-18G>T
  • NM_001407698.1:c.5053-18G>T
  • NM_001407724.1:c.5053-18G>T
  • NM_001407725.1:c.5053-18G>T
  • NM_001407726.1:c.5053-18G>T
  • NM_001407727.1:c.5053-18G>T
  • NM_001407728.1:c.5053-18G>T
  • NM_001407729.1:c.5053-18G>T
  • NM_001407730.1:c.5053-18G>T
  • NM_001407731.1:c.5053-18G>T
  • NM_001407732.1:c.5050-18G>T
  • NM_001407733.1:c.5050-18G>T
  • NM_001407734.1:c.5050-18G>T
  • NM_001407735.1:c.5050-18G>T
  • NM_001407736.1:c.5050-18G>T
  • NM_001407737.1:c.5050-18G>T
  • NM_001407738.1:c.5050-18G>T
  • NM_001407739.1:c.5050-18G>T
  • NM_001407740.1:c.5050-18G>T
  • NM_001407741.1:c.5050-18G>T
  • NM_001407742.1:c.5050-18G>T
  • NM_001407743.1:c.5050-18G>T
  • NM_001407744.1:c.5050-18G>T
  • NM_001407745.1:c.5050-18G>T
  • NM_001407746.1:c.5050-18G>T
  • NM_001407747.1:c.5050-18G>T
  • NM_001407748.1:c.5050-18G>T
  • NM_001407749.1:c.5050-18G>T
  • NM_001407750.1:c.5050-18G>T
  • NM_001407751.1:c.5050-18G>T
  • NM_001407752.1:c.5050-18G>T
  • NM_001407838.1:c.5047-18G>T
  • NM_001407839.1:c.5047-18G>T
  • NM_001407841.1:c.5047-18G>T
  • NM_001407842.1:c.5047-18G>T
  • NM_001407843.1:c.5047-18G>T
  • NM_001407844.1:c.5047-18G>T
  • NM_001407845.1:c.5047-18G>T
  • NM_001407846.1:c.5047-18G>T
  • NM_001407847.1:c.5047-18G>T
  • NM_001407848.1:c.5047-18G>T
  • NM_001407849.1:c.5047-18G>T
  • NM_001407850.1:c.5047-18G>T
  • NM_001407851.1:c.5047-18G>T
  • NM_001407852.1:c.5047-18G>T
  • NM_001407853.1:c.5047-18G>T
  • NM_001407854.1:c.5194-18G>T
  • NM_001407858.1:c.5191-18G>T
  • NM_001407859.1:c.5191-18G>T
  • NM_001407860.1:c.5191-18G>T
  • NM_001407861.1:c.5188-18G>T
  • NM_001407862.1:c.4993-18G>T
  • NM_001407863.1:c.4990-18G>T
  • NM_001407874.1:c.4987-18G>T
  • NM_001407875.1:c.4987-18G>T
  • NM_001407879.1:c.4984-18G>T
  • NM_001407881.1:c.4984-18G>T
  • NM_001407882.1:c.4984-18G>T
  • NM_001407884.1:c.4984-18G>T
  • NM_001407885.1:c.4984-18G>T
  • NM_001407886.1:c.4984-18G>T
  • NM_001407887.1:c.4984-18G>T
  • NM_001407889.1:c.4984-18G>T
  • NM_001407894.1:c.4981-18G>T
  • NM_001407895.1:c.4981-18G>T
  • NM_001407896.1:c.4981-18G>T
  • NM_001407897.1:c.4981-18G>T
  • NM_001407898.1:c.4981-18G>T
  • NM_001407899.1:c.4981-18G>T
  • NM_001407900.1:c.4981-18G>T
  • NM_001407902.1:c.4981-18G>T
  • NM_001407904.1:c.4981-18G>T
  • NM_001407906.1:c.4981-18G>T
  • NM_001407907.1:c.4981-18G>T
  • NM_001407908.1:c.4981-18G>T
  • NM_001407909.1:c.4981-18G>T
  • NM_001407910.1:c.4981-18G>T
  • NM_001407915.1:c.4978-18G>T
  • NM_001407916.1:c.4978-18G>T
  • NM_001407917.1:c.4978-18G>T
  • NM_001407918.1:c.4978-18G>T
  • NM_001407919.1:c.5071-18G>T
  • NM_001407920.1:c.4930-18G>T
  • NM_001407921.1:c.4930-18G>T
  • NM_001407922.1:c.4930-18G>T
  • NM_001407923.1:c.4930-18G>T
  • NM_001407924.1:c.4930-18G>T
  • NM_001407925.1:c.4930-18G>T
  • NM_001407926.1:c.4930-18G>T
  • NM_001407927.1:c.4927-18G>T
  • NM_001407928.1:c.4927-18G>T
  • NM_001407929.1:c.4927-18G>T
  • NM_001407930.1:c.4927-18G>T
  • NM_001407931.1:c.4927-18G>T
  • NM_001407932.1:c.4927-18G>T
  • NM_001407933.1:c.4927-18G>T
  • NM_001407934.1:c.4924-18G>T
  • NM_001407935.1:c.4924-18G>T
  • NM_001407936.1:c.4924-18G>T
  • NM_001407937.1:c.5071-18G>T
  • NM_001407938.1:c.5071-18G>T
  • NM_001407939.1:c.5068-18G>T
  • NM_001407940.1:c.5068-18G>T
  • NM_001407941.1:c.5065-18G>T
  • NM_001407942.1:c.5053-18G>T
  • NM_001407943.1:c.5050-18G>T
  • NM_001407944.1:c.5050-18G>T
  • NM_001407945.1:c.5050-18G>T
  • NM_001407946.1:c.4861-18G>T
  • NM_001407947.1:c.4861-18G>T
  • NM_001407948.1:c.4861-18G>T
  • NM_001407949.1:c.4861-18G>T
  • NM_001407950.1:c.4858-18G>T
  • NM_001407951.1:c.4858-18G>T
  • NM_001407952.1:c.4858-18G>T
  • NM_001407953.1:c.4858-18G>T
  • NM_001407954.1:c.4858-18G>T
  • NM_001407955.1:c.4858-18G>T
  • NM_001407956.1:c.4855-18G>T
  • NM_001407957.1:c.4855-18G>T
  • NM_001407958.1:c.4855-18G>T
  • NM_001407959.1:c.4813-18G>T
  • NM_001407960.1:c.4810-18G>T
  • NM_001407962.1:c.4810-18G>T
  • NM_001407963.1:c.4807-18G>T
  • NM_001407964.1:c.4732-18G>T
  • NM_001407965.1:c.4687-18G>T
  • NM_001407966.1:c.4306-18G>T
  • NM_001407967.1:c.4303-18G>T
  • NM_001407968.1:c.2590-18G>T
  • NM_001407969.1:c.2587-18G>T
  • NM_001407970.1:c.1951-18G>T
  • NM_001407971.1:c.1951-18G>T
  • NM_001407972.1:c.1948-18G>T
  • NM_001407973.1:c.1885-18G>T
  • NM_001407974.1:c.1885-18G>T
  • NM_001407975.1:c.1885-18G>T
  • NM_001407976.1:c.1885-18G>T
  • NM_001407977.1:c.1885-18G>T
  • NM_001407978.1:c.1885-18G>T
  • NM_001407979.1:c.1882-18G>T
  • NM_001407980.1:c.1882-18G>T
  • NM_001407981.1:c.1882-18G>T
  • NM_001407982.1:c.1882-18G>T
  • NM_001407983.1:c.1882-18G>T
  • NM_001407984.1:c.1882-18G>T
  • NM_001407985.1:c.1882-18G>T
  • NM_001407986.1:c.1882-18G>T
  • NM_001407990.1:c.1882-18G>T
  • NM_001407991.1:c.1882-18G>T
  • NM_001407992.1:c.1882-18G>T
  • NM_001407993.1:c.1882-18G>T
  • NM_001408392.1:c.1879-18G>T
  • NM_001408396.1:c.1879-18G>T
  • NM_001408397.1:c.1879-18G>T
  • NM_001408398.1:c.1879-18G>T
  • NM_001408399.1:c.1879-18G>T
  • NM_001408400.1:c.1879-18G>T
  • NM_001408401.1:c.1879-18G>T
  • NM_001408402.1:c.1879-18G>T
  • NM_001408403.1:c.1879-18G>T
  • NM_001408404.1:c.1879-18G>T
  • NM_001408406.1:c.1876-18G>T
  • NM_001408407.1:c.1876-18G>T
  • NM_001408408.1:c.1876-18G>T
  • NM_001408409.1:c.1873-18G>T
  • NM_001408410.1:c.1810-18G>T
  • NM_001408411.1:c.1807-18G>T
  • NM_001408412.1:c.1804-18G>T
  • NM_001408413.1:c.1804-18G>T
  • NM_001408414.1:c.1804-18G>T
  • NM_001408415.1:c.1804-18G>T
  • NM_001408416.1:c.1804-18G>T
  • NM_001408418.1:c.1768-18G>T
  • NM_001408419.1:c.1768-18G>T
  • NM_001408420.1:c.1768-18G>T
  • NM_001408421.1:c.1765-18G>T
  • NM_001408422.1:c.1765-18G>T
  • NM_001408423.1:c.1765-18G>T
  • NM_001408424.1:c.1765-18G>T
  • NM_001408425.1:c.1762-18G>T
  • NM_001408426.1:c.1762-18G>T
  • NM_001408427.1:c.1762-18G>T
  • NM_001408428.1:c.1762-18G>T
  • NM_001408429.1:c.1762-18G>T
  • NM_001408430.1:c.1762-18G>T
  • NM_001408431.1:c.1762-18G>T
  • NM_001408432.1:c.1759-18G>T
  • NM_001408433.1:c.1759-18G>T
  • NM_001408434.1:c.1759-18G>T
  • NM_001408435.1:c.1759-18G>T
  • NM_001408436.1:c.1759-18G>T
  • NM_001408437.1:c.1759-18G>T
  • NM_001408438.1:c.1759-18G>T
  • NM_001408439.1:c.1759-18G>T
  • NM_001408440.1:c.1759-18G>T
  • NM_001408441.1:c.1759-18G>T
  • NM_001408442.1:c.1759-18G>T
  • NM_001408443.1:c.1759-18G>T
  • NM_001408444.1:c.1759-18G>T
  • NM_001408445.1:c.1756-18G>T
  • NM_001408446.1:c.1756-18G>T
  • NM_001408447.1:c.1756-18G>T
  • NM_001408448.1:c.1756-18G>T
  • NM_001408450.1:c.1756-18G>T
  • NM_001408451.1:c.1750-18G>T
  • NM_001408452.1:c.1744-18G>T
  • NM_001408453.1:c.1744-18G>T
  • NM_001408454.1:c.1744-18G>T
  • NM_001408455.1:c.1744-18G>T
  • NM_001408456.1:c.1744-18G>T
  • NM_001408457.1:c.1744-18G>T
  • NM_001408458.1:c.1741-18G>T
  • NM_001408459.1:c.1741-18G>T
  • NM_001408460.1:c.1741-18G>T
  • NM_001408461.1:c.1741-18G>T
  • NM_001408462.1:c.1741-18G>T
  • NM_001408463.1:c.1741-18G>T
  • NM_001408464.1:c.1741-18G>T
  • NM_001408465.1:c.1741-18G>T
  • NM_001408466.1:c.1741-18G>T
  • NM_001408467.1:c.1741-18G>T
  • NM_001408468.1:c.1738-18G>T
  • NM_001408469.1:c.1738-18G>T
  • NM_001408470.1:c.1738-18G>T
  • NM_001408472.1:c.1882-18G>T
  • NM_001408473.1:c.1879-18G>T
  • NM_001408474.1:c.1684-18G>T
  • NM_001408475.1:c.1681-18G>T
  • NM_001408476.1:c.1681-18G>T
  • NM_001408478.1:c.1675-18G>T
  • NM_001408479.1:c.1675-18G>T
  • NM_001408480.1:c.1675-18G>T
  • NM_001408481.1:c.1672-18G>T
  • NM_001408482.1:c.1672-18G>T
  • NM_001408483.1:c.1672-18G>T
  • NM_001408484.1:c.1672-18G>T
  • NM_001408485.1:c.1672-18G>T
  • NM_001408489.1:c.1672-18G>T
  • NM_001408490.1:c.1672-18G>T
  • NM_001408491.1:c.1672-18G>T
  • NM_001408492.1:c.1669-18G>T
  • NM_001408493.1:c.1669-18G>T
  • NM_001408494.1:c.1645-18G>T
  • NM_001408495.1:c.1639-18G>T
  • NM_001408496.1:c.1621-18G>T
  • NM_001408497.1:c.1621-18G>T
  • NM_001408498.1:c.1621-18G>T
  • NM_001408499.1:c.1621-18G>T
  • NM_001408500.1:c.1621-18G>T
  • NM_001408501.1:c.1621-18G>T
  • NM_001408502.1:c.1618-18G>T
  • NM_001408503.1:c.1618-18G>T
  • NM_001408504.1:c.1618-18G>T
  • NM_001408505.1:c.1615-18G>T
  • NM_001408506.1:c.1558-18G>T
  • NM_001408507.1:c.1555-18G>T
  • NM_001408508.1:c.1546-18G>T
  • NM_001408509.1:c.1543-18G>T
  • NM_001408510.1:c.1504-18G>T
  • NM_001408511.1:c.1501-18G>T
  • NM_001408512.1:c.1381-18G>T
  • NM_001408513.1:c.1354-18G>T
  • NM_001408514.1:c.958-18G>T
  • NM_007294.4:c.5194-18G>TMANE SELECT
  • NM_007297.4:c.5053-18G>T
  • NM_007298.4:c.1882-18G>T
  • NM_007299.4:c.1882-18G>T
  • NM_007300.4:c.5257-18G>T
  • LRG_292t1:c.5194-18G>T
  • LRG_292:g.160831G>T
  • NC_000017.10:g.41209170C>A
  • NM_007294.3:c.5194-18G>T
  • U14680.1:n.5313-18G>T
Links:
Breast Cancer Information Core (BIC) (BRCA1): 5313-18&base_change=G to T; dbSNP: rs80358090
NCBI 1000 Genomes Browser:
rs80358090
Molecular consequence:
  • NM_001407571.1:c.4981-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407581.1:c.5260-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407582.1:c.5260-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407583.1:c.5257-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407585.1:c.5257-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407587.1:c.5257-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407590.1:c.5254-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407591.1:c.5254-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407593.1:c.5194-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407594.1:c.5194-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407596.1:c.5194-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407597.1:c.5194-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407598.1:c.5194-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407602.1:c.5194-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407603.1:c.5194-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407605.1:c.5194-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407610.1:c.5191-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407611.1:c.5191-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407612.1:c.5191-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407613.1:c.5191-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407614.1:c.5191-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407615.1:c.5191-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407616.1:c.5191-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407617.1:c.5191-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407618.1:c.5191-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407619.1:c.5191-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407620.1:c.5191-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407621.1:c.5191-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407622.1:c.5191-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407623.1:c.5191-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407624.1:c.5191-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407625.1:c.5191-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407626.1:c.5191-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407627.1:c.5188-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407628.1:c.5188-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407629.1:c.5188-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407630.1:c.5188-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407631.1:c.5188-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407632.1:c.5188-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407633.1:c.5188-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407634.1:c.5188-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407635.1:c.5188-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407636.1:c.5188-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407637.1:c.5188-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407638.1:c.5188-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407639.1:c.5188-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407640.1:c.5188-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407641.1:c.5188-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407642.1:c.5188-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407644.1:c.5185-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407645.1:c.5185-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407646.1:c.5182-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407647.1:c.5179-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407648.1:c.5137-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407649.1:c.5134-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407652.1:c.5116-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407653.1:c.5116-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407654.1:c.5116-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407655.1:c.5116-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407656.1:c.5113-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407657.1:c.5113-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407658.1:c.5113-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407659.1:c.5110-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407660.1:c.5110-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407661.1:c.5110-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407662.1:c.5110-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407663.1:c.5110-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407664.1:c.5071-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407665.1:c.5071-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407666.1:c.5071-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407667.1:c.5071-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407668.1:c.5071-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407669.1:c.5071-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407670.1:c.5068-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407671.1:c.5068-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407672.1:c.5068-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407673.1:c.5068-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407674.1:c.5068-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407675.1:c.5068-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407676.1:c.5068-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407677.1:c.5068-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407678.1:c.5068-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407679.1:c.5068-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407680.1:c.5068-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407681.1:c.5065-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407682.1:c.5065-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407683.1:c.5065-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407684.1:c.5194-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407685.1:c.5065-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407686.1:c.5065-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407687.1:c.5065-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407688.1:c.5065-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407689.1:c.5065-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407690.1:c.5062-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407691.1:c.5062-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407692.1:c.5053-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407694.1:c.5053-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407695.1:c.5053-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407696.1:c.5053-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407697.1:c.5053-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407698.1:c.5053-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407724.1:c.5053-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407725.1:c.5053-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407726.1:c.5053-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407727.1:c.5053-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407728.1:c.5053-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407729.1:c.5053-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407730.1:c.5053-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407731.1:c.5053-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407732.1:c.5050-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407733.1:c.5050-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407734.1:c.5050-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407735.1:c.5050-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407736.1:c.5050-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407737.1:c.5050-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407738.1:c.5050-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407739.1:c.5050-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407740.1:c.5050-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407741.1:c.5050-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407742.1:c.5050-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407743.1:c.5050-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407744.1:c.5050-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407745.1:c.5050-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407746.1:c.5050-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407747.1:c.5050-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407748.1:c.5050-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407749.1:c.5050-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407750.1:c.5050-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407751.1:c.5050-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407752.1:c.5050-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407838.1:c.5047-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407839.1:c.5047-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407841.1:c.5047-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407842.1:c.5047-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407843.1:c.5047-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407844.1:c.5047-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407845.1:c.5047-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407846.1:c.5047-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407847.1:c.5047-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407848.1:c.5047-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407849.1:c.5047-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407850.1:c.5047-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407851.1:c.5047-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407852.1:c.5047-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407853.1:c.5047-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407854.1:c.5194-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407858.1:c.5191-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407859.1:c.5191-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407860.1:c.5191-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407861.1:c.5188-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407862.1:c.4993-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407863.1:c.4990-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407874.1:c.4987-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407875.1:c.4987-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407879.1:c.4984-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407881.1:c.4984-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407882.1:c.4984-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407884.1:c.4984-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407885.1:c.4984-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407886.1:c.4984-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407887.1:c.4984-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407889.1:c.4984-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407894.1:c.4981-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407895.1:c.4981-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407896.1:c.4981-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407897.1:c.4981-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407898.1:c.4981-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407899.1:c.4981-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407900.1:c.4981-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407902.1:c.4981-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407904.1:c.4981-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407906.1:c.4981-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407907.1:c.4981-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407908.1:c.4981-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407909.1:c.4981-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407910.1:c.4981-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407915.1:c.4978-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407916.1:c.4978-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407917.1:c.4978-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407918.1:c.4978-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407919.1:c.5071-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407920.1:c.4930-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407921.1:c.4930-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407922.1:c.4930-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407923.1:c.4930-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407924.1:c.4930-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407925.1:c.4930-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407926.1:c.4930-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407927.1:c.4927-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407928.1:c.4927-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407929.1:c.4927-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407930.1:c.4927-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407931.1:c.4927-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407932.1:c.4927-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407933.1:c.4927-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407934.1:c.4924-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407935.1:c.4924-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407936.1:c.4924-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407937.1:c.5071-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407938.1:c.5071-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407939.1:c.5068-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407940.1:c.5068-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407941.1:c.5065-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407942.1:c.5053-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407943.1:c.5050-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407944.1:c.5050-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407945.1:c.5050-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407946.1:c.4861-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407947.1:c.4861-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407948.1:c.4861-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407949.1:c.4861-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407950.1:c.4858-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407951.1:c.4858-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407952.1:c.4858-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407953.1:c.4858-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407954.1:c.4858-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407955.1:c.4858-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407956.1:c.4855-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407957.1:c.4855-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407958.1:c.4855-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407959.1:c.4813-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407960.1:c.4810-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407962.1:c.4810-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407963.1:c.4807-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407964.1:c.4732-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407965.1:c.4687-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407966.1:c.4306-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407967.1:c.4303-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407968.1:c.2590-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.2587-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.1951-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.1951-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.1948-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.1885-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.1885-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.1885-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.1885-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.1885-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.1885-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.1882-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.1882-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.1882-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.1882-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.1882-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.1882-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.1882-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.1882-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.1882-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.1882-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.1882-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.1882-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.1879-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.1879-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.1879-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.1879-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.1879-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.1879-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.1879-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.1879-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.1879-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.1879-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.1876-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.1876-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.1876-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.1873-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.1810-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.1807-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.1804-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.1804-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.1804-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.1804-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.1804-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.1768-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.1768-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.1768-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.1765-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.1765-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.1765-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.1765-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.1762-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.1762-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.1762-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.1762-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.1762-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.1762-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.1762-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.1759-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.1759-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.1759-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.1759-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.1759-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.1759-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.1759-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.1759-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.1759-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.1759-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.1759-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.1759-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.1759-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.1756-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.1756-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.1756-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.1756-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.1756-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.1750-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.1744-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.1744-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.1744-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.1744-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.1744-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.1744-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.1741-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.1741-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.1741-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.1741-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.1741-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.1741-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.1741-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.1741-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.1741-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.1741-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.1738-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.1738-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.1738-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.1882-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.1879-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.1684-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.1681-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.1681-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.1675-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.1675-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.1675-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.1672-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.1672-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.1672-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.1672-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.1672-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.1672-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.1672-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.1672-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.1669-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.1669-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.1645-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.1639-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.1621-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.1621-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.1621-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.1621-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.1621-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.1621-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.1618-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.1618-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.1618-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.1615-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.1558-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.1555-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.1546-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.1543-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.1504-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.1501-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.1381-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.1354-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.958-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007294.4:c.5194-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007297.4:c.5053-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.1882-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.1882-18G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007300.4:c.5257-18G>T - intron variant - [Sequence Ontology: SO:0001627]
Observations:
2

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000145386Breast Cancer Information Core (BIC) (BRCA1)
no assertion criteria provided
Uncertain significance
(Apr 2, 1998) 		germlineclinical testing

SCV000488724Counsyl
criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))		Likely benign
(Jun 1, 2016) 		unknownclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Counsyl Autosomal Dominant Disease Classification criteria (2015)

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes.

Théry JC, Krieger S, Gaildrat P, Révillion F, Buisine MP, Killian A, Duponchel C, Rousselin A, Vaur D, Peyrat JP, Berthet P, Frébourg T, Martins A, Hardouin A, Tosi M.

Eur J Hum Genet. 2011 Oct;19(10):1052-8. doi: 10.1038/ejhg.2011.100. Epub 2011 Jun 15.

PubMed [citation]
PMID:
21673748
PMCID:
PMC3190263

Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations.

Judkins T, Hendrickson BC, Deffenbaugh AM, Eliason K, Leclair B, Norton MJ, Ward BE, Pruss D, Scholl T.

Cancer Res. 2005 Nov 1;65(21):10096-103.

PubMed [citation]
PMID:
16267036
See all PubMed Citations (3)

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA1), SCV000145386.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

From Counsyl, SCV000488724.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 30, 2024