Variant (rsID / SNP)
rs797045175
rs797045175 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRCA1. Location: chromosome 17, position 41,247,936. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
BRCA1Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- Deletion
- Chromosome / position
- 17:41247936
- Cytoband
- 17q21.31
- HGVS
- NM_007294.4(BRCA1):c.594_597delTGTG
Associated conditions / phenotypes
Fanconi anemia complementation group A|Breast-ovarian cancer, familial, susceptibility to, 1|Fanconi anemia, complementation group S|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.