Variant (rsID / SNP)
rs4986763
rs4986763 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRIP1. Location: chromosome 17, position 59,760,996. Clinical significance in the table: Benign.
Reference-table entries
BRIP1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:59760996
- Cytoband
- 17q23.2
- HGVS
- NM_032043.3(BRIP1):c.3411T>C (p.Tyr1137=)
- Allele change
- Synonymous_Y1137Y
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome|Fanconi anemia complementation group J|Neoplasm of ovary|Fanconi anemia complementation group J|Familial cancer of breast|Hereditary breast ovarian cancer syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.