NM_007294.4(BRCA1):c.5407-4C>G AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 7, 2020
- Review status:
- 1 star out of maximum of 4 starscriteria provided, single submitter
- 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:
- RCV000433879.4
Allele description [Variation Report for NM_007294.4(BRCA1):c.5407-4C>G]
NM_007294.4(BRCA1):c.5407-4C>G
- 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.5407-4C>G
- HGVS:
- NC_000017.11:g.43047707G>C
- NG_005905.2:g.170277C>G
- NM_001407571.1:c.5194-4C>G
- NM_001407581.1:c.5473-4C>G
- NM_001407582.1:c.5473-4C>G
- NM_001407583.1:c.5470-4C>G
- NM_001407585.1:c.5470-4C>G
- NM_001407587.1:c.5470-4C>G
- NM_001407590.1:c.5467-4C>G
- NM_001407591.1:c.5467-4C>G
- NM_001407593.1:c.5407-4C>G
- NM_001407594.1:c.5407-4C>G
- NM_001407596.1:c.5407-4C>G
- NM_001407597.1:c.5407-4C>G
- NM_001407598.1:c.5407-4C>G
- NM_001407602.1:c.5407-4C>G
- NM_001407603.1:c.5407-4C>G
- NM_001407605.1:c.5407-4C>G
- NM_001407610.1:c.5404-4C>G
- NM_001407611.1:c.5404-4C>G
- NM_001407612.1:c.5404-4C>G
- NM_001407613.1:c.5404-4C>G
- NM_001407614.1:c.5404-4C>G
- NM_001407615.1:c.5404-4C>G
- NM_001407616.1:c.5404-4C>G
- NM_001407617.1:c.5404-4C>G
- NM_001407618.1:c.5404-4C>G
- NM_001407619.1:c.5404-4C>G
- NM_001407620.1:c.5404-4C>G
- NM_001407621.1:c.5404-4C>G
- NM_001407622.1:c.5404-4C>G
- NM_001407623.1:c.5404-4C>G
- NM_001407624.1:c.5404-4C>G
- NM_001407625.1:c.5404-4C>G
- NM_001407626.1:c.5404-4C>G
- NM_001407627.1:c.5401-4C>G
- NM_001407628.1:c.5401-4C>G
- NM_001407629.1:c.5401-4C>G
- NM_001407630.1:c.5401-4C>G
- NM_001407631.1:c.5401-4C>G
- NM_001407632.1:c.5401-4C>G
- NM_001407633.1:c.5401-4C>G
- NM_001407634.1:c.5401-4C>G
- NM_001407635.1:c.5401-4C>G
- NM_001407636.1:c.5401-4C>G
- NM_001407637.1:c.5401-4C>G
- NM_001407638.1:c.5401-4C>G
- NM_001407639.1:c.5401-4C>G
- NM_001407640.1:c.5401-4C>G
- NM_001407641.1:c.5401-4C>G
- NM_001407642.1:c.5401-4C>G
- NM_001407644.1:c.5398-4C>G
- NM_001407645.1:c.5398-4C>G
- NM_001407646.1:c.5395-4C>G
- NM_001407647.1:c.5392-4C>G
- NM_001407648.1:c.5350-4C>G
- NM_001407649.1:c.5347-4C>G
- NM_001407652.1:c.5329-4C>G
- NM_001407653.1:c.5329-4C>G
- NM_001407654.1:c.5329-4C>G
- NM_001407655.1:c.5329-4C>G
- NM_001407656.1:c.5326-4C>G
- NM_001407657.1:c.5326-4C>G
- NM_001407658.1:c.5326-4C>G
- NM_001407659.1:c.5323-4C>G
- NM_001407660.1:c.5323-4C>G
- NM_001407661.1:c.5323-4C>G
- NM_001407662.1:c.5323-4C>G
- NM_001407663.1:c.5323-4C>G
- NM_001407664.1:c.5284-4C>G
- NM_001407665.1:c.5284-4C>G
- NM_001407666.1:c.5284-4C>G
- NM_001407667.1:c.5284-4C>G
- NM_001407668.1:c.5284-4C>G
- NM_001407669.1:c.5284-4C>G
- NM_001407670.1:c.5281-4C>G
- NM_001407671.1:c.5281-4C>G
- NM_001407672.1:c.5281-4C>G
- NM_001407673.1:c.5281-4C>G
- NM_001407674.1:c.5281-4C>G
- NM_001407675.1:c.5281-4C>G
- NM_001407676.1:c.5281-4C>G
- NM_001407677.1:c.5281-4C>G
- NM_001407678.1:c.5281-4C>G
- NM_001407679.1:c.5281-4C>G
- NM_001407680.1:c.5281-4C>G
- NM_001407681.1:c.5278-4C>G
- NM_001407682.1:c.5278-4C>G
- NM_001407683.1:c.5278-4C>G
- NM_001407684.1:c.5278-4C>G
- NM_001407685.1:c.5278-4C>G
- NM_001407686.1:c.5278-4C>G
- NM_001407687.1:c.5278-4C>G
- NM_001407688.1:c.5278-4C>G
- NM_001407689.1:c.5278-4C>G
- NM_001407690.1:c.5275-4C>G
- NM_001407691.1:c.5275-4C>G
- NM_001407692.1:c.5266-4C>G
- NM_001407694.1:c.5266-4C>G
- NM_001407695.1:c.5266-4C>G
- NM_001407696.1:c.5266-4C>G
- NM_001407697.1:c.5266-4C>G
- NM_001407698.1:c.5266-4C>G
- NM_001407724.1:c.5266-4C>G
- NM_001407725.1:c.5266-4C>G
- NM_001407726.1:c.5266-4C>G
- NM_001407727.1:c.5266-4C>G
- NM_001407728.1:c.5266-4C>G
- NM_001407729.1:c.5266-4C>G
- NM_001407730.1:c.5266-4C>G
- NM_001407731.1:c.5266-4C>G
- NM_001407732.1:c.5263-4C>G
- NM_001407733.1:c.5263-4C>G
- NM_001407734.1:c.5263-4C>G
- NM_001407735.1:c.5263-4C>G
- NM_001407736.1:c.5263-4C>G
- NM_001407737.1:c.5263-4C>G
- NM_001407738.1:c.5263-4C>G
- NM_001407739.1:c.5263-4C>G
- NM_001407740.1:c.5263-4C>G
- NM_001407741.1:c.5263-4C>G
- NM_001407742.1:c.5263-4C>G
- NM_001407743.1:c.5263-4C>G
- NM_001407744.1:c.5263-4C>G
- NM_001407745.1:c.5263-4C>G
- NM_001407746.1:c.5263-4C>G
- NM_001407747.1:c.5263-4C>G
- NM_001407748.1:c.5263-4C>G
- NM_001407749.1:c.5263-4C>G
- NM_001407750.1:c.5263-4C>G
- NM_001407751.1:c.5263-4C>G
- NM_001407752.1:c.5263-4C>G
- NM_001407838.1:c.5260-4C>G
- NM_001407839.1:c.5260-4C>G
- NM_001407841.1:c.5260-4C>G
- NM_001407842.1:c.5260-4C>G
- NM_001407843.1:c.5260-4C>G
- NM_001407844.1:c.5260-4C>G
- NM_001407845.1:c.5260-4C>G
- NM_001407846.1:c.5260-4C>G
- NM_001407847.1:c.5260-4C>G
- NM_001407848.1:c.5260-4C>G
- NM_001407849.1:c.5260-4C>G
- NM_001407850.1:c.5260-4C>G
- NM_001407851.1:c.5260-4C>G
- NM_001407852.1:c.5260-4C>G
- NM_001407853.1:c.5260-4C>G
- NM_001407854.1:c.5333-4C>G
- NM_001407858.1:c.5330-4C>G
- NM_001407859.1:c.5330-4C>G
- NM_001407860.1:c.5330-4C>G
- NM_001407861.1:c.5327-4C>G
- NM_001407862.1:c.5206-4C>G
- NM_001407863.1:c.5203-4C>G
- NM_001407874.1:c.5200-4C>G
- NM_001407875.1:c.5200-4C>G
- NM_001407879.1:c.5197-4C>G
- NM_001407881.1:c.5197-4C>G
- NM_001407882.1:c.5197-4C>G
- NM_001407884.1:c.5197-4C>G
- NM_001407885.1:c.5197-4C>G
- NM_001407886.1:c.5197-4C>G
- NM_001407887.1:c.5197-4C>G
- NM_001407889.1:c.5197-4C>G
- NM_001407894.1:c.5194-4C>G
- NM_001407895.1:c.5194-4C>G
- NM_001407896.1:c.5194-4C>G
- NM_001407897.1:c.5194-4C>G
- NM_001407898.1:c.5194-4C>G
- NM_001407899.1:c.5194-4C>G
- NM_001407900.1:c.5194-4C>G
- NM_001407902.1:c.5194-4C>G
- NM_001407904.1:c.5194-4C>G
- NM_001407906.1:c.5194-4C>G
- NM_001407907.1:c.5194-4C>G
- NM_001407908.1:c.5194-4C>G
- NM_001407909.1:c.5194-4C>G
- NM_001407910.1:c.5194-4C>G
- NM_001407915.1:c.5191-4C>G
- NM_001407916.1:c.5191-4C>G
- NM_001407917.1:c.5191-4C>G
- NM_001407918.1:c.5191-4C>G
- NM_001407919.1:c.5155-4C>G
- NM_001407920.1:c.5143-4C>G
- NM_001407921.1:c.5143-4C>G
- NM_001407922.1:c.5143-4C>G
- NM_001407923.1:c.5143-4C>G
- NM_001407924.1:c.5143-4C>G
- NM_001407925.1:c.5143-4C>G
- NM_001407926.1:c.5143-4C>G
- NM_001407927.1:c.5140-4C>G
- NM_001407928.1:c.5140-4C>G
- NM_001407929.1:c.5140-4C>G
- NM_001407930.1:c.5140-4C>G
- NM_001407931.1:c.5140-4C>G
- NM_001407932.1:c.5140-4C>G
- NM_001407933.1:c.5140-4C>G
- NM_001407934.1:c.5137-4C>G
- NM_001407935.1:c.5137-4C>G
- NM_001407936.1:c.5137-4C>G
- NM_001407937.1:c.5210-4C>G
- NM_001407938.1:c.5210-4C>G
- NM_001407939.1:c.5207-4C>G
- NM_001407940.1:c.5207-4C>G
- NM_001407941.1:c.5204-4C>G
- NM_001407942.1:c.5192-4C>G
- NM_001407943.1:c.5189-4C>G
- NM_001407944.1:c.5189-4C>G
- NM_001407945.1:c.5189-4C>G
- NM_001407946.1:c.5074-4C>G
- NM_001407947.1:c.5074-4C>G
- NM_001407948.1:c.5074-4C>G
- NM_001407949.1:c.5074-4C>G
- NM_001407950.1:c.5071-4C>G
- NM_001407951.1:c.5071-4C>G
- NM_001407952.1:c.5071-4C>G
- NM_001407953.1:c.5071-4C>G
- NM_001407954.1:c.5071-4C>G
- NM_001407955.1:c.5071-4C>G
- NM_001407956.1:c.5068-4C>G
- NM_001407957.1:c.5068-4C>G
- NM_001407958.1:c.5068-4C>G
- NM_001407959.1:c.5026-4C>G
- NM_001407960.1:c.5023-4C>G
- NM_001407962.1:c.5023-4C>G
- NM_001407963.1:c.5020-4C>G
- NM_001407964.1:c.4945-4C>G
- NM_001407965.1:c.4900-4C>G
- NM_001407966.1:c.4519-4C>G
- NM_001407967.1:c.4516-4C>G
- NM_001407968.1:c.2803-4C>G
- NM_001407969.1:c.2800-4C>G
- NM_001407970.1:c.2164-4C>G
- NM_001407971.1:c.2164-4C>G
- NM_001407972.1:c.2161-4C>G
- NM_001407973.1:c.2098-4C>G
- NM_001407974.1:c.2098-4C>G
- NM_001407975.1:c.2098-4C>G
- NM_001407976.1:c.2098-4C>G
- NM_001407977.1:c.2098-4C>G
- NM_001407978.1:c.2098-4C>G
- NM_001407979.1:c.2095-4C>G
- NM_001407980.1:c.2095-4C>G
- NM_001407981.1:c.2095-4C>G
- NM_001407982.1:c.2095-4C>G
- NM_001407983.1:c.2095-4C>G
- NM_001407984.1:c.2095-4C>G
- NM_001407985.1:c.2095-4C>G
- NM_001407986.1:c.2095-4C>G
- NM_001407990.1:c.2095-4C>G
- NM_001407991.1:c.2095-4C>G
- NM_001407992.1:c.2095-4C>G
- NM_001407993.1:c.2095-4C>G
- NM_001408392.1:c.2092-4C>G
- NM_001408396.1:c.2092-4C>G
- NM_001408397.1:c.2092-4C>G
- NM_001408398.1:c.2092-4C>G
- NM_001408399.1:c.2092-4C>G
- NM_001408400.1:c.2092-4C>G
- NM_001408401.1:c.2092-4C>G
- NM_001408402.1:c.2092-4C>G
- NM_001408403.1:c.2092-4C>G
- NM_001408404.1:c.2092-4C>G
- NM_001408406.1:c.2089-4C>G
- NM_001408407.1:c.2089-4C>G
- NM_001408408.1:c.2089-4C>G
- NM_001408409.1:c.2086-4C>G
- NM_001408410.1:c.2023-4C>G
- NM_001408411.1:c.2020-4C>G
- NM_001408412.1:c.2017-4C>G
- NM_001408413.1:c.2017-4C>G
- NM_001408414.1:c.2017-4C>G
- NM_001408415.1:c.2017-4C>G
- NM_001408416.1:c.2017-4C>G
- NM_001408418.1:c.1981-4C>G
- NM_001408419.1:c.1981-4C>G
- NM_001408420.1:c.1981-4C>G
- NM_001408421.1:c.1978-4C>G
- NM_001408422.1:c.1978-4C>G
- NM_001408423.1:c.1978-4C>G
- NM_001408424.1:c.1978-4C>G
- NM_001408425.1:c.1975-4C>G
- NM_001408426.1:c.1975-4C>G
- NM_001408427.1:c.1975-4C>G
- NM_001408428.1:c.1975-4C>G
- NM_001408429.1:c.1975-4C>G
- NM_001408430.1:c.1975-4C>G
- NM_001408431.1:c.1975-4C>G
- NM_001408432.1:c.1972-4C>G
- NM_001408433.1:c.1972-4C>G
- NM_001408434.1:c.1972-4C>G
- NM_001408435.1:c.1972-4C>G
- NM_001408436.1:c.1972-4C>G
- NM_001408437.1:c.1972-4C>G
- NM_001408438.1:c.1972-4C>G
- NM_001408439.1:c.1972-4C>G
- NM_001408440.1:c.1972-4C>G
- NM_001408441.1:c.1972-4C>G
- NM_001408442.1:c.1972-4C>G
- NM_001408443.1:c.1972-4C>G
- NM_001408444.1:c.1972-4C>G
- NM_001408445.1:c.1969-4C>G
- NM_001408446.1:c.1969-4C>G
- NM_001408447.1:c.1969-4C>G
- NM_001408448.1:c.1969-4C>G
- NM_001408450.1:c.1969-4C>G
- NM_001408451.1:c.1963-4C>G
- NM_001408452.1:c.1957-4C>G
- NM_001408453.1:c.1957-4C>G
- NM_001408454.1:c.1957-4C>G
- NM_001408455.1:c.1957-4C>G
- NM_001408456.1:c.1957-4C>G
- NM_001408457.1:c.1957-4C>G
- NM_001408458.1:c.1954-4C>G
- NM_001408459.1:c.1954-4C>G
- NM_001408460.1:c.1954-4C>G
- NM_001408461.1:c.1954-4C>G
- NM_001408462.1:c.1954-4C>G
- NM_001408463.1:c.1954-4C>G
- NM_001408464.1:c.1954-4C>G
- NM_001408465.1:c.1954-4C>G
- NM_001408466.1:c.1954-4C>G
- NM_001408467.1:c.1954-4C>G
- NM_001408468.1:c.1951-4C>G
- NM_001408469.1:c.1951-4C>G
- NM_001408470.1:c.1951-4C>G
- NM_001408472.1:c.2021-4C>G
- NM_001408473.1:c.2018-4C>G
- NM_001408474.1:c.1897-4C>G
- NM_001408475.1:c.1894-4C>G
- NM_001408476.1:c.1894-4C>G
- NM_001408478.1:c.1888-4C>G
- NM_001408479.1:c.1888-4C>G
- NM_001408480.1:c.1888-4C>G
- NM_001408481.1:c.1885-4C>G
- NM_001408482.1:c.1885-4C>G
- NM_001408483.1:c.1885-4C>G
- NM_001408484.1:c.1885-4C>G
- NM_001408485.1:c.1885-4C>G
- NM_001408489.1:c.1885-4C>G
- NM_001408490.1:c.1885-4C>G
- NM_001408491.1:c.1885-4C>G
- NM_001408492.1:c.1882-4C>G
- NM_001408493.1:c.1882-4C>G
- NM_001408494.1:c.1858-4C>G
- NM_001408495.1:c.1852-4C>G
- NM_001408496.1:c.1834-4C>G
- NM_001408497.1:c.1834-4C>G
- NM_001408498.1:c.1834-4C>G
- NM_001408499.1:c.1834-4C>G
- NM_001408500.1:c.1834-4C>G
- NM_001408501.1:c.1834-4C>G
- NM_001408502.1:c.1831-4C>G
- NM_001408503.1:c.1831-4C>G
- NM_001408504.1:c.1831-4C>G
- NM_001408505.1:c.1828-4C>G
- NM_001408506.1:c.1771-4C>G
- NM_001408507.1:c.1768-4C>G
- NM_001408508.1:c.1759-4C>G
- NM_001408509.1:c.1756-4C>G
- NM_001408510.1:c.1717-4C>G
- NM_001408511.1:c.1714-4C>G
- NM_001408512.1:c.1594-4C>G
- NM_001408513.1:c.1567-4C>G
- NM_001408514.1:c.1171-4C>G
- NM_007294.4:c.5407-4C>GMANE SELECT
- NM_007297.4:c.5266-4C>G
- NM_007298.4:c.2095-4C>G
- NM_007299.4:c.2021-4C>G
- NM_007300.4:c.5470-4C>G
- LRG_292t1:c.5407-4C>G
- LRG_292:g.170277C>G
- NC_000017.10:g.41199724G>C
- NM_007294.3:c.5407-4C>G
This HGVS expression did not pass validation- Links:
- dbSNP: rs876660347
- NCBI 1000 Genomes Browser:
- rs876660347
- Molecular consequence:
- NM_001407571.1:c.5194-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407581.1:c.5473-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407582.1:c.5473-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407583.1:c.5470-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407585.1:c.5470-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407587.1:c.5470-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407590.1:c.5467-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407591.1:c.5467-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407593.1:c.5407-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407594.1:c.5407-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407596.1:c.5407-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407597.1:c.5407-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407598.1:c.5407-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407602.1:c.5407-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407603.1:c.5407-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407605.1:c.5407-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407610.1:c.5404-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407611.1:c.5404-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407612.1:c.5404-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407613.1:c.5404-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407614.1:c.5404-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407615.1:c.5404-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407616.1:c.5404-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407617.1:c.5404-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407618.1:c.5404-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407619.1:c.5404-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407620.1:c.5404-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407621.1:c.5404-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407622.1:c.5404-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407623.1:c.5404-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407624.1:c.5404-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407625.1:c.5404-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407626.1:c.5404-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407627.1:c.5401-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407628.1:c.5401-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407629.1:c.5401-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407630.1:c.5401-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407631.1:c.5401-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407632.1:c.5401-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407633.1:c.5401-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407634.1:c.5401-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407635.1:c.5401-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407636.1:c.5401-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407637.1:c.5401-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407638.1:c.5401-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407639.1:c.5401-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407640.1:c.5401-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407641.1:c.5401-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407642.1:c.5401-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407644.1:c.5398-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407645.1:c.5398-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407646.1:c.5395-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407647.1:c.5392-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407648.1:c.5350-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407649.1:c.5347-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407652.1:c.5329-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407653.1:c.5329-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407654.1:c.5329-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407655.1:c.5329-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407656.1:c.5326-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407657.1:c.5326-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407658.1:c.5326-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407659.1:c.5323-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407660.1:c.5323-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407661.1:c.5323-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407662.1:c.5323-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407663.1:c.5323-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407664.1:c.5284-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407665.1:c.5284-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407666.1:c.5284-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407667.1:c.5284-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407668.1:c.5284-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407669.1:c.5284-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407670.1:c.5281-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407671.1:c.5281-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407672.1:c.5281-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407673.1:c.5281-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407674.1:c.5281-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407675.1:c.5281-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407676.1:c.5281-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407677.1:c.5281-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407678.1:c.5281-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407679.1:c.5281-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407680.1:c.5281-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407681.1:c.5278-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407682.1:c.5278-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407683.1:c.5278-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407684.1:c.5278-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407685.1:c.5278-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407686.1:c.5278-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407687.1:c.5278-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407688.1:c.5278-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407689.1:c.5278-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407690.1:c.5275-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407691.1:c.5275-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407692.1:c.5266-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407694.1:c.5266-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407695.1:c.5266-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407696.1:c.5266-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407697.1:c.5266-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407698.1:c.5266-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407724.1:c.5266-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407725.1:c.5266-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407726.1:c.5266-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407727.1:c.5266-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407728.1:c.5266-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407729.1:c.5266-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407730.1:c.5266-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407731.1:c.5266-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407732.1:c.5263-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407733.1:c.5263-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407734.1:c.5263-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407735.1:c.5263-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407736.1:c.5263-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407737.1:c.5263-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407738.1:c.5263-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407739.1:c.5263-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407740.1:c.5263-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407741.1:c.5263-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407742.1:c.5263-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407743.1:c.5263-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407744.1:c.5263-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407745.1:c.5263-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407746.1:c.5263-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407747.1:c.5263-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407748.1:c.5263-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407749.1:c.5263-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407750.1:c.5263-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407751.1:c.5263-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407752.1:c.5263-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407838.1:c.5260-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407839.1:c.5260-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407841.1:c.5260-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407842.1:c.5260-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407843.1:c.5260-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407844.1:c.5260-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407845.1:c.5260-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407846.1:c.5260-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407847.1:c.5260-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407848.1:c.5260-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407849.1:c.5260-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407850.1:c.5260-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407851.1:c.5260-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407852.1:c.5260-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407853.1:c.5260-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407854.1:c.5333-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407858.1:c.5330-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407859.1:c.5330-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407860.1:c.5330-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407861.1:c.5327-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407862.1:c.5206-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407863.1:c.5203-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407874.1:c.5200-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407875.1:c.5200-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407879.1:c.5197-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407881.1:c.5197-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407882.1:c.5197-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407884.1:c.5197-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407885.1:c.5197-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407886.1:c.5197-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407887.1:c.5197-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407889.1:c.5197-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407894.1:c.5194-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407895.1:c.5194-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407896.1:c.5194-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407897.1:c.5194-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407898.1:c.5194-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407899.1:c.5194-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407900.1:c.5194-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407902.1:c.5194-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407904.1:c.5194-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407906.1:c.5194-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407907.1:c.5194-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407908.1:c.5194-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407909.1:c.5194-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407910.1:c.5194-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407915.1:c.5191-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407916.1:c.5191-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407917.1:c.5191-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407918.1:c.5191-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407919.1:c.5155-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407920.1:c.5143-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407921.1:c.5143-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407922.1:c.5143-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407923.1:c.5143-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407924.1:c.5143-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407925.1:c.5143-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407926.1:c.5143-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407927.1:c.5140-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407928.1:c.5140-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407929.1:c.5140-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407930.1:c.5140-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407931.1:c.5140-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407932.1:c.5140-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407933.1:c.5140-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407934.1:c.5137-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407935.1:c.5137-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407936.1:c.5137-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407937.1:c.5210-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407938.1:c.5210-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407939.1:c.5207-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407940.1:c.5207-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407941.1:c.5204-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407942.1:c.5192-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407943.1:c.5189-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407944.1:c.5189-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407945.1:c.5189-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407946.1:c.5074-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407947.1:c.5074-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407948.1:c.5074-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407949.1:c.5074-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407950.1:c.5071-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407951.1:c.5071-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407952.1:c.5071-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407953.1:c.5071-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407954.1:c.5071-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407955.1:c.5071-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407956.1:c.5068-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407957.1:c.5068-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407958.1:c.5068-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407959.1:c.5026-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407960.1:c.5023-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407962.1:c.5023-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407963.1:c.5020-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407964.1:c.4945-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407965.1:c.4900-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407966.1:c.4519-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407967.1:c.4516-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407968.1:c.2803-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407969.1:c.2800-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407970.1:c.2164-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407971.1:c.2164-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407972.1:c.2161-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407973.1:c.2098-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407974.1:c.2098-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407975.1:c.2098-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407976.1:c.2098-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407977.1:c.2098-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407978.1:c.2098-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407979.1:c.2095-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407980.1:c.2095-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407981.1:c.2095-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407982.1:c.2095-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407983.1:c.2095-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407984.1:c.2095-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407985.1:c.2095-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407986.1:c.2095-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407990.1:c.2095-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407991.1:c.2095-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407992.1:c.2095-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407993.1:c.2095-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408392.1:c.2092-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408396.1:c.2092-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408397.1:c.2092-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408398.1:c.2092-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408399.1:c.2092-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408400.1:c.2092-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408401.1:c.2092-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408402.1:c.2092-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408403.1:c.2092-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408404.1:c.2092-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408406.1:c.2089-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408407.1:c.2089-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408408.1:c.2089-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408409.1:c.2086-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408410.1:c.2023-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408411.1:c.2020-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408412.1:c.2017-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408413.1:c.2017-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408414.1:c.2017-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408415.1:c.2017-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408416.1:c.2017-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408418.1:c.1981-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408419.1:c.1981-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408420.1:c.1981-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408421.1:c.1978-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408422.1:c.1978-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408423.1:c.1978-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408424.1:c.1978-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408425.1:c.1975-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408426.1:c.1975-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408427.1:c.1975-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408428.1:c.1975-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408429.1:c.1975-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408430.1:c.1975-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408431.1:c.1975-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408432.1:c.1972-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408433.1:c.1972-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408434.1:c.1972-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408435.1:c.1972-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408436.1:c.1972-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408437.1:c.1972-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408438.1:c.1972-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408439.1:c.1972-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408440.1:c.1972-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408441.1:c.1972-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408442.1:c.1972-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408443.1:c.1972-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408444.1:c.1972-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408445.1:c.1969-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408446.1:c.1969-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408447.1:c.1969-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408448.1:c.1969-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408450.1:c.1969-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408451.1:c.1963-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408452.1:c.1957-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408453.1:c.1957-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408454.1:c.1957-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408455.1:c.1957-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408456.1:c.1957-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408457.1:c.1957-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408458.1:c.1954-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408459.1:c.1954-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408460.1:c.1954-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408461.1:c.1954-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408462.1:c.1954-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408463.1:c.1954-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408464.1:c.1954-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408465.1:c.1954-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408466.1:c.1954-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408467.1:c.1954-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408468.1:c.1951-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408469.1:c.1951-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408470.1:c.1951-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408472.1:c.2021-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408473.1:c.2018-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408474.1:c.1897-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408475.1:c.1894-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408476.1:c.1894-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408478.1:c.1888-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408479.1:c.1888-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408480.1:c.1888-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408481.1:c.1885-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408482.1:c.1885-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408483.1:c.1885-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408484.1:c.1885-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408485.1:c.1885-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408489.1:c.1885-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408490.1:c.1885-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408491.1:c.1885-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408492.1:c.1882-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408493.1:c.1882-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408494.1:c.1858-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408495.1:c.1852-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408496.1:c.1834-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408497.1:c.1834-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408498.1:c.1834-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408499.1:c.1834-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408500.1:c.1834-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408501.1:c.1834-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408502.1:c.1831-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408503.1:c.1831-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408504.1:c.1831-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408505.1:c.1828-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408506.1:c.1771-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408507.1:c.1768-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408508.1:c.1759-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408509.1:c.1756-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408510.1:c.1717-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408511.1:c.1714-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408512.1:c.1594-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408513.1:c.1567-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408514.1:c.1171-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_007294.4:c.5407-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_007297.4:c.5266-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_007298.4:c.2095-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_007299.4:c.2021-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_007300.4:c.5470-4C>G - intron variant - [Sequence Ontology: SO:0001627]
- Functional consequence:
- functionally_normal [Sequence Ontology: SO:0002219] - Comment(s)
- The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5407-4C>G, a SPLICE REGION variant, produced a function score of 0.42, corresponding to a functional classification of FUNCTIONAL. SGE function score ranges for classification are as follows: ‘functional’, score > -0.748; ‘intermediate’, -0.748 > score > -1.328; ‘non-functional’, score < -1.328. The median synonymous SNV scored 0.0 and the median nonsense SNV scored -2.12.
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
Homo sapiens chemokine-like factor super family member 8 (CKLFSF8) mRNA, complet...
Homo sapiens chemokine-like factor super family member 8 (CKLFSF8) mRNA, complete cdsgi|25167350|gb|AF474370.2|Nucleotide
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See more...Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV001370707 | Women's Health and Genetics/Laboratory Corporation of America, LabCorp | criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015) | Uncertain significance (May 7, 2020) | germline | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | germline | unknown | not provided | not provided | not provided | not provided | not provided | clinical testing |
Details of each submission
From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001370707.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
Description
Variant summary: BRCA1 c.5407-4C>G alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 251444 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.5407-4C>G in individuals affected with Hereditary Breast And Ovarian Cancer Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. Five ClinVar submitters (evaluation after 2014) cite the variant as likely benign (n=3) or uncertain significance (n=2). Based on the evidence outlined above, the variant was classified as uncertain significance.
# | 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 | not provided | not provided |
Last Updated: Oct 8, 2024