Variant (rsID / SNP)
rs368796923
rs368796923 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRIP1. Location: chromosome 17, position 59,876,561. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
BRIP1Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:59876561
- Cytoband
- 17q23.2
- HGVS
- NM_032043.3(BRIP1):c.1240C>T (p.Gln414Ter)
- Allele change
- Nonsense_Q414X
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome|Fanconi anemia complementation group J|Neoplasm of ovary|Familial cancer of breast|Fanconi anemia complementation group J|Familial cancer of breast
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.