NM_007294.4(BRCA1):c.5194-12G>A AND Breast-ovarian cancer, familial, susceptibility to, 1
- Germline classification:
- Pathogenic (3 submissions)
- Last evaluated:
- Oct 2, 2015
- Review status:
- 3 stars out of maximum of 4 starsreviewed by expert panel
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV000077608.19
Allele description [Variation Report for NM_007294.4(BRCA1):c.5194-12G>A]
NM_007294.4(BRCA1):c.5194-12G>A
- 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.5194-12G>A
- HGVS:
- NC_000017.11:g.43057147C>T
- NG_005905.2:g.160837G>A
- NM_001407571.1:c.4981-12G>A
- NM_001407581.1:c.5260-12G>A
- NM_001407582.1:c.5260-12G>A
- NM_001407583.1:c.5257-12G>A
- NM_001407585.1:c.5257-12G>A
- NM_001407587.1:c.5257-12G>A
- NM_001407590.1:c.5254-12G>A
- NM_001407591.1:c.5254-12G>A
- NM_001407593.1:c.5194-12G>A
- NM_001407594.1:c.5194-12G>A
- NM_001407596.1:c.5194-12G>A
- NM_001407597.1:c.5194-12G>A
- NM_001407598.1:c.5194-12G>A
- NM_001407602.1:c.5194-12G>A
- NM_001407603.1:c.5194-12G>A
- NM_001407605.1:c.5194-12G>A
- NM_001407610.1:c.5191-12G>A
- NM_001407611.1:c.5191-12G>A
- NM_001407612.1:c.5191-12G>A
- NM_001407613.1:c.5191-12G>A
- NM_001407614.1:c.5191-12G>A
- NM_001407615.1:c.5191-12G>A
- NM_001407616.1:c.5191-12G>A
- NM_001407617.1:c.5191-12G>A
- NM_001407618.1:c.5191-12G>A
- NM_001407619.1:c.5191-12G>A
- NM_001407620.1:c.5191-12G>A
- NM_001407621.1:c.5191-12G>A
- NM_001407622.1:c.5191-12G>A
- NM_001407623.1:c.5191-12G>A
- NM_001407624.1:c.5191-12G>A
- NM_001407625.1:c.5191-12G>A
- NM_001407626.1:c.5191-12G>A
- NM_001407627.1:c.5188-12G>A
- NM_001407628.1:c.5188-12G>A
- NM_001407629.1:c.5188-12G>A
- NM_001407630.1:c.5188-12G>A
- NM_001407631.1:c.5188-12G>A
- NM_001407632.1:c.5188-12G>A
- NM_001407633.1:c.5188-12G>A
- NM_001407634.1:c.5188-12G>A
- NM_001407635.1:c.5188-12G>A
- NM_001407636.1:c.5188-12G>A
- NM_001407637.1:c.5188-12G>A
- NM_001407638.1:c.5188-12G>A
- NM_001407639.1:c.5188-12G>A
- NM_001407640.1:c.5188-12G>A
- NM_001407641.1:c.5188-12G>A
- NM_001407642.1:c.5188-12G>A
- NM_001407644.1:c.5185-12G>A
- NM_001407645.1:c.5185-12G>A
- NM_001407646.1:c.5182-12G>A
- NM_001407647.1:c.5179-12G>A
- NM_001407648.1:c.5137-12G>A
- NM_001407649.1:c.5134-12G>A
- NM_001407652.1:c.5116-12G>A
- NM_001407653.1:c.5116-12G>A
- NM_001407654.1:c.5116-12G>A
- NM_001407655.1:c.5116-12G>A
- NM_001407656.1:c.5113-12G>A
- NM_001407657.1:c.5113-12G>A
- NM_001407658.1:c.5113-12G>A
- NM_001407659.1:c.5110-12G>A
- NM_001407660.1:c.5110-12G>A
- NM_001407661.1:c.5110-12G>A
- NM_001407662.1:c.5110-12G>A
- NM_001407663.1:c.5110-12G>A
- NM_001407664.1:c.5071-12G>A
- NM_001407665.1:c.5071-12G>A
- NM_001407666.1:c.5071-12G>A
- NM_001407667.1:c.5071-12G>A
- NM_001407668.1:c.5071-12G>A
- NM_001407669.1:c.5071-12G>A
- NM_001407670.1:c.5068-12G>A
- NM_001407671.1:c.5068-12G>A
- NM_001407672.1:c.5068-12G>A
- NM_001407673.1:c.5068-12G>A
- NM_001407674.1:c.5068-12G>A
- NM_001407675.1:c.5068-12G>A
- NM_001407676.1:c.5068-12G>A
- NM_001407677.1:c.5068-12G>A
- NM_001407678.1:c.5068-12G>A
- NM_001407679.1:c.5068-12G>A
- NM_001407680.1:c.5068-12G>A
- NM_001407681.1:c.5065-12G>A
- NM_001407682.1:c.5065-12G>A
- NM_001407683.1:c.5065-12G>A
- NM_001407684.1:c.5194-12G>A
- NM_001407685.1:c.5065-12G>A
- NM_001407686.1:c.5065-12G>A
- NM_001407687.1:c.5065-12G>A
- NM_001407688.1:c.5065-12G>A
- NM_001407689.1:c.5065-12G>A
- NM_001407690.1:c.5062-12G>A
- NM_001407691.1:c.5062-12G>A
- NM_001407692.1:c.5053-12G>A
- NM_001407694.1:c.5053-12G>A
- NM_001407695.1:c.5053-12G>A
- NM_001407696.1:c.5053-12G>A
- NM_001407697.1:c.5053-12G>A
- NM_001407698.1:c.5053-12G>A
- NM_001407724.1:c.5053-12G>A
- NM_001407725.1:c.5053-12G>A
- NM_001407726.1:c.5053-12G>A
- NM_001407727.1:c.5053-12G>A
- NM_001407728.1:c.5053-12G>A
- NM_001407729.1:c.5053-12G>A
- NM_001407730.1:c.5053-12G>A
- NM_001407731.1:c.5053-12G>A
- NM_001407732.1:c.5050-12G>A
- NM_001407733.1:c.5050-12G>A
- NM_001407734.1:c.5050-12G>A
- NM_001407735.1:c.5050-12G>A
- NM_001407736.1:c.5050-12G>A
- NM_001407737.1:c.5050-12G>A
- NM_001407738.1:c.5050-12G>A
- NM_001407739.1:c.5050-12G>A
- NM_001407740.1:c.5050-12G>A
- NM_001407741.1:c.5050-12G>A
- NM_001407742.1:c.5050-12G>A
- NM_001407743.1:c.5050-12G>A
- NM_001407744.1:c.5050-12G>A
- NM_001407745.1:c.5050-12G>A
- NM_001407746.1:c.5050-12G>A
- NM_001407747.1:c.5050-12G>A
- NM_001407748.1:c.5050-12G>A
- NM_001407749.1:c.5050-12G>A
- NM_001407750.1:c.5050-12G>A
- NM_001407751.1:c.5050-12G>A
- NM_001407752.1:c.5050-12G>A
- NM_001407838.1:c.5047-12G>A
- NM_001407839.1:c.5047-12G>A
- NM_001407841.1:c.5047-12G>A
- NM_001407842.1:c.5047-12G>A
- NM_001407843.1:c.5047-12G>A
- NM_001407844.1:c.5047-12G>A
- NM_001407845.1:c.5047-12G>A
- NM_001407846.1:c.5047-12G>A
- NM_001407847.1:c.5047-12G>A
- NM_001407848.1:c.5047-12G>A
- NM_001407849.1:c.5047-12G>A
- NM_001407850.1:c.5047-12G>A
- NM_001407851.1:c.5047-12G>A
- NM_001407852.1:c.5047-12G>A
- NM_001407853.1:c.5047-12G>A
- NM_001407854.1:c.5194-12G>A
- NM_001407858.1:c.5191-12G>A
- NM_001407859.1:c.5191-12G>A
- NM_001407860.1:c.5191-12G>A
- NM_001407861.1:c.5188-12G>A
- NM_001407862.1:c.4993-12G>A
- NM_001407863.1:c.4990-12G>A
- NM_001407874.1:c.4987-12G>A
- NM_001407875.1:c.4987-12G>A
- NM_001407879.1:c.4984-12G>A
- NM_001407881.1:c.4984-12G>A
- NM_001407882.1:c.4984-12G>A
- NM_001407884.1:c.4984-12G>A
- NM_001407885.1:c.4984-12G>A
- NM_001407886.1:c.4984-12G>A
- NM_001407887.1:c.4984-12G>A
- NM_001407889.1:c.4984-12G>A
- NM_001407894.1:c.4981-12G>A
- NM_001407895.1:c.4981-12G>A
- NM_001407896.1:c.4981-12G>A
- NM_001407897.1:c.4981-12G>A
- NM_001407898.1:c.4981-12G>A
- NM_001407899.1:c.4981-12G>A
- NM_001407900.1:c.4981-12G>A
- NM_001407902.1:c.4981-12G>A
- NM_001407904.1:c.4981-12G>A
- NM_001407906.1:c.4981-12G>A
- NM_001407907.1:c.4981-12G>A
- NM_001407908.1:c.4981-12G>A
- NM_001407909.1:c.4981-12G>A
- NM_001407910.1:c.4981-12G>A
- NM_001407915.1:c.4978-12G>A
- NM_001407916.1:c.4978-12G>A
- NM_001407917.1:c.4978-12G>A
- NM_001407918.1:c.4978-12G>A
- NM_001407919.1:c.5071-12G>A
- NM_001407920.1:c.4930-12G>A
- NM_001407921.1:c.4930-12G>A
- NM_001407922.1:c.4930-12G>A
- NM_001407923.1:c.4930-12G>A
- NM_001407924.1:c.4930-12G>A
- NM_001407925.1:c.4930-12G>A
- NM_001407926.1:c.4930-12G>A
- NM_001407927.1:c.4927-12G>A
- NM_001407928.1:c.4927-12G>A
- NM_001407929.1:c.4927-12G>A
- NM_001407930.1:c.4927-12G>A
- NM_001407931.1:c.4927-12G>A
- NM_001407932.1:c.4927-12G>A
- NM_001407933.1:c.4927-12G>A
- NM_001407934.1:c.4924-12G>A
- NM_001407935.1:c.4924-12G>A
- NM_001407936.1:c.4924-12G>A
- NM_001407937.1:c.5071-12G>A
- NM_001407938.1:c.5071-12G>A
- NM_001407939.1:c.5068-12G>A
- NM_001407940.1:c.5068-12G>A
- NM_001407941.1:c.5065-12G>A
- NM_001407942.1:c.5053-12G>A
- NM_001407943.1:c.5050-12G>A
- NM_001407944.1:c.5050-12G>A
- NM_001407945.1:c.5050-12G>A
- NM_001407946.1:c.4861-12G>A
- NM_001407947.1:c.4861-12G>A
- NM_001407948.1:c.4861-12G>A
- NM_001407949.1:c.4861-12G>A
- NM_001407950.1:c.4858-12G>A
- NM_001407951.1:c.4858-12G>A
- NM_001407952.1:c.4858-12G>A
- NM_001407953.1:c.4858-12G>A
- NM_001407954.1:c.4858-12G>A
- NM_001407955.1:c.4858-12G>A
- NM_001407956.1:c.4855-12G>A
- NM_001407957.1:c.4855-12G>A
- NM_001407958.1:c.4855-12G>A
- NM_001407959.1:c.4813-12G>A
- NM_001407960.1:c.4810-12G>A
- NM_001407962.1:c.4810-12G>A
- NM_001407963.1:c.4807-12G>A
- NM_001407964.1:c.4732-12G>A
- NM_001407965.1:c.4687-12G>A
- NM_001407966.1:c.4306-12G>A
- NM_001407967.1:c.4303-12G>A
- NM_001407968.1:c.2590-12G>A
- NM_001407969.1:c.2587-12G>A
- NM_001407970.1:c.1951-12G>A
- NM_001407971.1:c.1951-12G>A
- NM_001407972.1:c.1948-12G>A
- NM_001407973.1:c.1885-12G>A
- NM_001407974.1:c.1885-12G>A
- NM_001407975.1:c.1885-12G>A
- NM_001407976.1:c.1885-12G>A
- NM_001407977.1:c.1885-12G>A
- NM_001407978.1:c.1885-12G>A
- NM_001407979.1:c.1882-12G>A
- NM_001407980.1:c.1882-12G>A
- NM_001407981.1:c.1882-12G>A
- NM_001407982.1:c.1882-12G>A
- NM_001407983.1:c.1882-12G>A
- NM_001407984.1:c.1882-12G>A
- NM_001407985.1:c.1882-12G>A
- NM_001407986.1:c.1882-12G>A
- NM_001407990.1:c.1882-12G>A
- NM_001407991.1:c.1882-12G>A
- NM_001407992.1:c.1882-12G>A
- NM_001407993.1:c.1882-12G>A
- NM_001408392.1:c.1879-12G>A
- NM_001408396.1:c.1879-12G>A
- NM_001408397.1:c.1879-12G>A
- NM_001408398.1:c.1879-12G>A
- NM_001408399.1:c.1879-12G>A
- NM_001408400.1:c.1879-12G>A
- NM_001408401.1:c.1879-12G>A
- NM_001408402.1:c.1879-12G>A
- NM_001408403.1:c.1879-12G>A
- NM_001408404.1:c.1879-12G>A
- NM_001408406.1:c.1876-12G>A
- NM_001408407.1:c.1876-12G>A
- NM_001408408.1:c.1876-12G>A
- NM_001408409.1:c.1873-12G>A
- NM_001408410.1:c.1810-12G>A
- NM_001408411.1:c.1807-12G>A
- NM_001408412.1:c.1804-12G>A
- NM_001408413.1:c.1804-12G>A
- NM_001408414.1:c.1804-12G>A
- NM_001408415.1:c.1804-12G>A
- NM_001408416.1:c.1804-12G>A
- NM_001408418.1:c.1768-12G>A
- NM_001408419.1:c.1768-12G>A
- NM_001408420.1:c.1768-12G>A
- NM_001408421.1:c.1765-12G>A
- NM_001408422.1:c.1765-12G>A
- NM_001408423.1:c.1765-12G>A
- NM_001408424.1:c.1765-12G>A
- NM_001408425.1:c.1762-12G>A
- NM_001408426.1:c.1762-12G>A
- NM_001408427.1:c.1762-12G>A
- NM_001408428.1:c.1762-12G>A
- NM_001408429.1:c.1762-12G>A
- NM_001408430.1:c.1762-12G>A
- NM_001408431.1:c.1762-12G>A
- NM_001408432.1:c.1759-12G>A
- NM_001408433.1:c.1759-12G>A
- NM_001408434.1:c.1759-12G>A
- NM_001408435.1:c.1759-12G>A
- NM_001408436.1:c.1759-12G>A
- NM_001408437.1:c.1759-12G>A
- NM_001408438.1:c.1759-12G>A
- NM_001408439.1:c.1759-12G>A
- NM_001408440.1:c.1759-12G>A
- NM_001408441.1:c.1759-12G>A
- NM_001408442.1:c.1759-12G>A
- NM_001408443.1:c.1759-12G>A
- NM_001408444.1:c.1759-12G>A
- NM_001408445.1:c.1756-12G>A
- NM_001408446.1:c.1756-12G>A
- NM_001408447.1:c.1756-12G>A
- NM_001408448.1:c.1756-12G>A
- NM_001408450.1:c.1756-12G>A
- NM_001408451.1:c.1750-12G>A
- NM_001408452.1:c.1744-12G>A
- NM_001408453.1:c.1744-12G>A
- NM_001408454.1:c.1744-12G>A
- NM_001408455.1:c.1744-12G>A
- NM_001408456.1:c.1744-12G>A
- NM_001408457.1:c.1744-12G>A
- NM_001408458.1:c.1741-12G>A
- NM_001408459.1:c.1741-12G>A
- NM_001408460.1:c.1741-12G>A
- NM_001408461.1:c.1741-12G>A
- NM_001408462.1:c.1741-12G>A
- NM_001408463.1:c.1741-12G>A
- NM_001408464.1:c.1741-12G>A
- NM_001408465.1:c.1741-12G>A
- NM_001408466.1:c.1741-12G>A
- NM_001408467.1:c.1741-12G>A
- NM_001408468.1:c.1738-12G>A
- NM_001408469.1:c.1738-12G>A
- NM_001408470.1:c.1738-12G>A
- NM_001408472.1:c.1882-12G>A
- NM_001408473.1:c.1879-12G>A
- NM_001408474.1:c.1684-12G>A
- NM_001408475.1:c.1681-12G>A
- NM_001408476.1:c.1681-12G>A
- NM_001408478.1:c.1675-12G>A
- NM_001408479.1:c.1675-12G>A
- NM_001408480.1:c.1675-12G>A
- NM_001408481.1:c.1672-12G>A
- NM_001408482.1:c.1672-12G>A
- NM_001408483.1:c.1672-12G>A
- NM_001408484.1:c.1672-12G>A
- NM_001408485.1:c.1672-12G>A
- NM_001408489.1:c.1672-12G>A
- NM_001408490.1:c.1672-12G>A
- NM_001408491.1:c.1672-12G>A
- NM_001408492.1:c.1669-12G>A
- NM_001408493.1:c.1669-12G>A
- NM_001408494.1:c.1645-12G>A
- NM_001408495.1:c.1639-12G>A
- NM_001408496.1:c.1621-12G>A
- NM_001408497.1:c.1621-12G>A
- NM_001408498.1:c.1621-12G>A
- NM_001408499.1:c.1621-12G>A
- NM_001408500.1:c.1621-12G>A
- NM_001408501.1:c.1621-12G>A
- NM_001408502.1:c.1618-12G>A
- NM_001408503.1:c.1618-12G>A
- NM_001408504.1:c.1618-12G>A
- NM_001408505.1:c.1615-12G>A
- NM_001408506.1:c.1558-12G>A
- NM_001408507.1:c.1555-12G>A
- NM_001408508.1:c.1546-12G>A
- NM_001408509.1:c.1543-12G>A
- NM_001408510.1:c.1504-12G>A
- NM_001408511.1:c.1501-12G>A
- NM_001408512.1:c.1381-12G>A
- NM_001408513.1:c.1354-12G>A
- NM_001408514.1:c.958-12G>A
- NM_007294.4:c.5194-12G>AMANE SELECT
- NM_007297.4:c.5053-12G>A
- NM_007298.4:c.1882-12G>A
- NM_007299.4:c.1882-12G>A
- NM_007300.4:c.5257-12G>A
- LRG_292t1:c.5194-12G>A
- LRG_292:g.160837G>A
- NC_000017.10:g.41209164C>T
- NM_007294.3:c.5194-12G>A
- U14680.1:n.5313-12G>A
This HGVS expression did not pass validation- Nucleotide change:
- IVS19-12G>A
- Links:
- BRCA1-HCI: BRCA1_00123; Breast Cancer Information Core (BIC) (BRCA1): 5313-12&base_change=G to A; dbSNP: rs80358079
- NCBI 1000 Genomes Browser:
- rs80358079
- Molecular consequence:
- NM_001407571.1:c.4981-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407581.1:c.5260-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407582.1:c.5260-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407583.1:c.5257-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407585.1:c.5257-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407587.1:c.5257-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407590.1:c.5254-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407591.1:c.5254-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407593.1:c.5194-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407594.1:c.5194-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407596.1:c.5194-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407597.1:c.5194-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407598.1:c.5194-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407602.1:c.5194-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407603.1:c.5194-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407605.1:c.5194-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407610.1:c.5191-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407611.1:c.5191-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407612.1:c.5191-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407613.1:c.5191-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407614.1:c.5191-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407615.1:c.5191-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407616.1:c.5191-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407617.1:c.5191-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407618.1:c.5191-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407619.1:c.5191-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407620.1:c.5191-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407621.1:c.5191-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407622.1:c.5191-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407623.1:c.5191-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407624.1:c.5191-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407625.1:c.5191-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407626.1:c.5191-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407627.1:c.5188-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407628.1:c.5188-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407629.1:c.5188-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407630.1:c.5188-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407631.1:c.5188-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407632.1:c.5188-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407633.1:c.5188-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407634.1:c.5188-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407635.1:c.5188-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407636.1:c.5188-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407637.1:c.5188-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407638.1:c.5188-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407639.1:c.5188-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407640.1:c.5188-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407641.1:c.5188-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407642.1:c.5188-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407644.1:c.5185-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407645.1:c.5185-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407646.1:c.5182-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407647.1:c.5179-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407648.1:c.5137-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407649.1:c.5134-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407652.1:c.5116-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407653.1:c.5116-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407654.1:c.5116-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407655.1:c.5116-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407656.1:c.5113-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407657.1:c.5113-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407658.1:c.5113-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407659.1:c.5110-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407660.1:c.5110-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407661.1:c.5110-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407662.1:c.5110-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407663.1:c.5110-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407664.1:c.5071-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407665.1:c.5071-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407666.1:c.5071-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407667.1:c.5071-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407668.1:c.5071-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407669.1:c.5071-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407670.1:c.5068-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407671.1:c.5068-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407672.1:c.5068-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407673.1:c.5068-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407674.1:c.5068-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407675.1:c.5068-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407676.1:c.5068-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407677.1:c.5068-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407678.1:c.5068-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407679.1:c.5068-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407680.1:c.5068-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407681.1:c.5065-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407682.1:c.5065-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407683.1:c.5065-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407684.1:c.5194-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407685.1:c.5065-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407686.1:c.5065-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407687.1:c.5065-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407688.1:c.5065-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407689.1:c.5065-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407690.1:c.5062-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407691.1:c.5062-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407692.1:c.5053-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407694.1:c.5053-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407695.1:c.5053-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407696.1:c.5053-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407697.1:c.5053-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407698.1:c.5053-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407724.1:c.5053-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407725.1:c.5053-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407726.1:c.5053-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407727.1:c.5053-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407728.1:c.5053-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407729.1:c.5053-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407730.1:c.5053-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407731.1:c.5053-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407732.1:c.5050-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407733.1:c.5050-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407734.1:c.5050-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407735.1:c.5050-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407736.1:c.5050-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407737.1:c.5050-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407738.1:c.5050-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407739.1:c.5050-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407740.1:c.5050-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407741.1:c.5050-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407742.1:c.5050-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407743.1:c.5050-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407744.1:c.5050-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407745.1:c.5050-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407746.1:c.5050-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407747.1:c.5050-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407748.1:c.5050-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407749.1:c.5050-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407750.1:c.5050-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407751.1:c.5050-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407752.1:c.5050-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407838.1:c.5047-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407839.1:c.5047-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407841.1:c.5047-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407842.1:c.5047-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407843.1:c.5047-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407844.1:c.5047-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407845.1:c.5047-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407846.1:c.5047-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407847.1:c.5047-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407848.1:c.5047-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407849.1:c.5047-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407850.1:c.5047-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407851.1:c.5047-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407852.1:c.5047-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407853.1:c.5047-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407854.1:c.5194-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407858.1:c.5191-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407859.1:c.5191-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407860.1:c.5191-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407861.1:c.5188-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407862.1:c.4993-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407863.1:c.4990-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407874.1:c.4987-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407875.1:c.4987-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407879.1:c.4984-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407881.1:c.4984-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407882.1:c.4984-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407884.1:c.4984-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407885.1:c.4984-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407886.1:c.4984-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407887.1:c.4984-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407889.1:c.4984-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407894.1:c.4981-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407895.1:c.4981-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407896.1:c.4981-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407897.1:c.4981-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407898.1:c.4981-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407899.1:c.4981-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407900.1:c.4981-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407902.1:c.4981-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407904.1:c.4981-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407906.1:c.4981-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407907.1:c.4981-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407908.1:c.4981-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407909.1:c.4981-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407910.1:c.4981-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407915.1:c.4978-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407916.1:c.4978-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407917.1:c.4978-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407918.1:c.4978-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407919.1:c.5071-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407920.1:c.4930-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407921.1:c.4930-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407922.1:c.4930-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407923.1:c.4930-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407924.1:c.4930-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407925.1:c.4930-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407926.1:c.4930-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407927.1:c.4927-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407928.1:c.4927-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407929.1:c.4927-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407930.1:c.4927-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407931.1:c.4927-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407932.1:c.4927-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407933.1:c.4927-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407934.1:c.4924-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407935.1:c.4924-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407936.1:c.4924-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407937.1:c.5071-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407938.1:c.5071-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407939.1:c.5068-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407940.1:c.5068-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407941.1:c.5065-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407942.1:c.5053-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407943.1:c.5050-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407944.1:c.5050-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407945.1:c.5050-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407946.1:c.4861-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407947.1:c.4861-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407948.1:c.4861-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407949.1:c.4861-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407950.1:c.4858-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407951.1:c.4858-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407952.1:c.4858-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407953.1:c.4858-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407954.1:c.4858-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407955.1:c.4858-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407956.1:c.4855-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407957.1:c.4855-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407958.1:c.4855-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407959.1:c.4813-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407960.1:c.4810-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407962.1:c.4810-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407963.1:c.4807-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407964.1:c.4732-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407965.1:c.4687-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407966.1:c.4306-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407967.1:c.4303-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407968.1:c.2590-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407969.1:c.2587-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407970.1:c.1951-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407971.1:c.1951-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407972.1:c.1948-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407973.1:c.1885-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407974.1:c.1885-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407975.1:c.1885-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407976.1:c.1885-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407977.1:c.1885-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407978.1:c.1885-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407979.1:c.1882-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407980.1:c.1882-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407981.1:c.1882-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407982.1:c.1882-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407983.1:c.1882-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407984.1:c.1882-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407985.1:c.1882-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407986.1:c.1882-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407990.1:c.1882-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407991.1:c.1882-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407992.1:c.1882-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407993.1:c.1882-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408392.1:c.1879-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408396.1:c.1879-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408397.1:c.1879-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408398.1:c.1879-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408399.1:c.1879-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408400.1:c.1879-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408401.1:c.1879-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408402.1:c.1879-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408403.1:c.1879-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408404.1:c.1879-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408406.1:c.1876-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408407.1:c.1876-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408408.1:c.1876-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408409.1:c.1873-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408410.1:c.1810-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408411.1:c.1807-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408412.1:c.1804-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408413.1:c.1804-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408414.1:c.1804-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408415.1:c.1804-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408416.1:c.1804-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408418.1:c.1768-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408419.1:c.1768-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408420.1:c.1768-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408421.1:c.1765-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408422.1:c.1765-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408423.1:c.1765-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408424.1:c.1765-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408425.1:c.1762-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408426.1:c.1762-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408427.1:c.1762-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408428.1:c.1762-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408429.1:c.1762-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408430.1:c.1762-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408431.1:c.1762-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408432.1:c.1759-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408433.1:c.1759-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408434.1:c.1759-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408435.1:c.1759-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408436.1:c.1759-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408437.1:c.1759-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408438.1:c.1759-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408439.1:c.1759-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408440.1:c.1759-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408441.1:c.1759-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408442.1:c.1759-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408443.1:c.1759-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408444.1:c.1759-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408445.1:c.1756-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408446.1:c.1756-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408447.1:c.1756-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408448.1:c.1756-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408450.1:c.1756-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408451.1:c.1750-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408452.1:c.1744-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408453.1:c.1744-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408454.1:c.1744-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408455.1:c.1744-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408456.1:c.1744-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408457.1:c.1744-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408458.1:c.1741-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408459.1:c.1741-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408460.1:c.1741-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408461.1:c.1741-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408462.1:c.1741-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408463.1:c.1741-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408464.1:c.1741-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408465.1:c.1741-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408466.1:c.1741-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408467.1:c.1741-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408468.1:c.1738-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408469.1:c.1738-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408470.1:c.1738-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408472.1:c.1882-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408473.1:c.1879-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408474.1:c.1684-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408475.1:c.1681-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408476.1:c.1681-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408478.1:c.1675-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408479.1:c.1675-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408480.1:c.1675-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408481.1:c.1672-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408482.1:c.1672-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408483.1:c.1672-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408484.1:c.1672-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408485.1:c.1672-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408489.1:c.1672-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408490.1:c.1672-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408491.1:c.1672-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408492.1:c.1669-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408493.1:c.1669-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408494.1:c.1645-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408495.1:c.1639-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408496.1:c.1621-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408497.1:c.1621-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408498.1:c.1621-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408499.1:c.1621-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408500.1:c.1621-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408501.1:c.1621-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408502.1:c.1618-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408503.1:c.1618-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408504.1:c.1618-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408505.1:c.1615-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408506.1:c.1558-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408507.1:c.1555-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408508.1:c.1546-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408509.1:c.1543-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408510.1:c.1504-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408511.1:c.1501-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408512.1:c.1381-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408513.1:c.1354-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408514.1:c.958-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_007294.4:c.5194-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_007297.4:c.5053-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_007298.4:c.1882-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_007299.4:c.1882-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_007300.4:c.5257-12G>A - intron variant - [Sequence Ontology: SO:0001627]
- Observations:
- 2
Condition(s)
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000109411 | Sharing Clinical Reports Project (SCRP) | no assertion criteria provided | Likely pathogenic (Feb 11, 2014) | germline | clinical testing | |
SCV000145385 | Breast Cancer Information Core (BIC) (BRCA1) | no assertion criteria provided | Uncertain significance (May 29, 2002) | germline | clinical testing | |
SCV000326205 | Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge | criteria provided, single submitter (CIMBA Mutation Classification guidelines May 2016) | Pathogenic (Oct 2, 2015) | germline | clinical testing | CIMBA_Mutation_Classification_guidelines_May16.pdf |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | germline | yes | 3 | not provided | not provided | not provided | not provided | clinical testing |
not provided | germline | not provided | 4 | not provided | not provided | 4 | not provided | clinical testing |
not provided | germline | unknown | not provided | 2 | not provided | not provided | not provided | clinical testing |
Western European | germline | yes | 2 | not provided | not provided | not provided | not provided | clinical testing |
Details of each submission
From Sharing Clinical Reports Project (SCRP), SCV000109411.5
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | not provided | 4 | not provided | not provided | not provided | not provided | not provided | not provided |
From Breast Cancer Information Core (BIC) (BRCA1), SCV000145385.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | 2 | not provided | not provided | clinical testing | not provided |
2 | not provided | 1 | not provided | not provided | clinical testing | not provided |
3 | Western European | 2 | not provided | not provided | clinical testing | not provided |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | yes | not provided | not provided | not provided | 2 | not provided | not provided | not provided | |
2 | germline | yes | not provided | not provided | not provided | 1 | not provided | not provided | not provided | |
3 | germline | yes | not provided | not provided | not provided | 2 | not provided | not provided | not provided |
From Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge, SCV000326205.4
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | 2 | not provided |
Last Updated: Aug 18, 2024