Variant (rsID / SNP)
rs80357562
rs80357562 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRCA1. Location: chromosome 17, position 41,243,954. Clinical significance in the table: Pathogenic.
Reference-table entries
BRCA1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Duplication
- Chromosome / position
- 17:41243954
- Cytoband
- 17q21.31
- HGVS
- NM_007294.4(BRCA1):c.3592_3593dup (p.Leu1198fs)
Associated conditions / phenotypes
Breast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.