Variant (rsID / SNP)
rs1057519365
rs1057519365 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRIP1. Location: chromosome 17, position 59,858,292. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
BRIP1Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- Deletion
- Chromosome / position
- 17:59858292
- Cytoband
- 17q23.2
- HGVS
- NM_032043.3(BRIP1):c.1702_1703del (p.Asn568fs)
Associated conditions / phenotypes
Carcinoma of colon|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Fanconi anemia complementation group J|Fanconi anemia complementation group J|Neoplasm of ovary
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.