Variant (rsID / SNP)
rs550707862
rs550707862 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRIP1. Location: chromosome 17, position 59,924,502. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
BRIP1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:59924502
- Cytoband
- 17q23.2
- HGVS
- NM_032043.3(BRIP1):c.587A>G (p.Asn196Ser)
- Allele change
- Missense_N196S
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome|Familial cancer of breast|Fanconi anemia complementation group J|Fanconi anemia complementation group J|Cancer of cervix|Malignant tumor of breast
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.