Variant (rsID / SNP)
rs180177132
rs180177132 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PALB2. Location: chromosome 16, position 23,632,683. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 16:23632683
- Cytoband
- 16p12.2
- HGVS
- NM_024675.4(PALB2):c.3113G>A (p.Trp1038Ter)
- Allele change
- Nonsense_W1038X
Associated conditions / phenotypes
Familial cancer of breast|Hereditary cancer-predisposing syndrome|Breast cancer, susceptibility to|Hereditary breast ovarian cancer syndrome|PALB2-Related Disorders|Familial cancer of breast|Hereditary cancer-predisposing syndrome|Pancreatic cancer, susceptibility to, 3|Fanconi anemia complementation group N|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.