Variant (rsID / SNP)
rs397508933
rs397508933 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRCA1. Location: chromosome 17, position 41,245,500. Clinical significance in the table: Pathogenic.
Reference-table entries
BRCA1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Deletion
- Chromosome / position
- 17:41245500
- Cytoband
- 17q21.31
- HGVS
- NM_007294.4(BRCA1):c.2048del (p.Lys683fs)
Associated conditions / phenotypes
Familial cancer of breast|Breast-ovarian cancer, familial, susceptibility to, 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.