Variant (rsID / SNP)
rs869312774
rs869312774 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PALB2. Location: chromosome 16, position 23,625,340. Clinical significance in the table: Pathogenic.
Reference-table entries
PALB2Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Deletion
- Chromosome / position
- 16:23625340
- Cytoband
- 16p12.2
- HGVS
- NM_024675.4(PALB2):c.3186del (p.Ala1063fs)
Associated conditions / phenotypes
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.