Variant (rsID / SNP)
rs587778134
rs587778134 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRIP1. Location: chromosome 17, position 59,853,819. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
BRIP1Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- Duplication
- Chromosome / position
- 17:59853819
- Cytoband
- 17q23.2
- HGVS
- NM_032043.3(BRIP1):c.2038_2039dup (p.Leu680fs)
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome|Fanconi anemia complementation group J|Neoplasm of ovary|Familial cancer of breast|Fanconi anemia complementation group J|Breast and/or ovarian cancer
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.