Variant (rsID / SNP)
rs80359747
rs80359747 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRCA2. Location: chromosome 13, position 32,954,031. Clinical significance in the table: Pathogenic.
Reference-table entries
BRCA2Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Insertion
- Chromosome / position
- 13:32954031
- Cytoband
- 13q13.1
- HGVS
- NM_000059.4(BRCA2):c.9098_9099insA (p.Gln3034fs)
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.