Variant (rsID / SNP)
rs80359569
rs80359569 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRCA2. Location: chromosome 13, position 32,914,730. Clinical significance in the table: Pathogenic.
Reference-table entries
BRCA2Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Deletion
- Chromosome / position
- 13:32914730
- Cytoband
- 13q13.1
- HGVS
- NM_000059.4(BRCA2):c.6239del (p.Val2079_Leu2080insTer)
Associated conditions / phenotypes
Breast-ovarian cancer, familial, susceptibility to, 2
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.