Variant (rsID / SNP)
rs180177127
rs180177127 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PALB2. Location: chromosome 16, position 23,634,303. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
PALB2Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- Duplication
- Chromosome / position
- 16:23634303
- Cytoband
- 16p12.2
- HGVS
- NM_024675.4(PALB2):c.2982dup (p.Ala995fs)
Associated conditions / phenotypes
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.