Variant (rsID / SNP)
rs180177133
rs180177133 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PALB2. Location: chromosome 16, position 23,625,410. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
PALB2Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- Deletion
- Chromosome / position
- 16:23625410
- Cytoband
- 16p12.2
- HGVS
- NM_024675.4(PALB2):c.3116del (p.Asn1039fs)
Associated conditions / phenotypes
Breast cancer, susceptibility to|Familial cancer of breast|Fanconi anemia complementation group N|Pancreatic cancer, susceptibility to, 3|Hereditary cancer-predisposing syndrome|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.