Variant (rsID / SNP)
rs777367075
rs777367075 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRIP1. Location: chromosome 17, position 59,760,881. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
BRIP1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- Duplication
- Chromosome / position
- 17:59760881
- Cytoband
- 17q23.2
- HGVS
- NM_032043.3(BRIP1):c.3525dup (p.Ile1176fs)
Associated conditions / phenotypes
Fanconi anemia complementation group J|Familial cancer of breast|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.
