Variant (rsID / SNP)
rs760551339
rs760551339 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRIP1. Location: chromosome 17, position 59,763,415. Clinical significance in the table: Pathogenic.
Reference-table entries
BRIP1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Deletion
- Chromosome / position
- 17:59763415
- Cytoband
- 17q23.2
- HGVS
- NM_032043.3(BRIP1):c.2684_2687del (p.Val894_Ser895insTer)
Associated conditions / phenotypes
Familial cancer of breast|Fanconi anemia complementation group J|Hereditary cancer-predisposing syndrome|Breast and/or ovarian cancer|Neoplasm of ovary|Carcinoma of pancreas|Malignant tumor of breast|BRIP1-Related Disorders|Fanconi anemia complementation group J
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.