Variant (rsID / SNP)
rs118203998
rs118203998 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PALB2. Location: chromosome 16, position 23,614,792. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
PALB2Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 16:23614792
- Cytoband
- 16p12.2
- HGVS
- NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter)
- Allele change
- Nonsense_Y1183X
Associated conditions / phenotypes
Fanconi anemia complementation group N|Breast cancer, susceptibility to|Familial cancer of breast|Hereditary cancer-predisposing syndrome|PALB2-Related Disorders|Pancreatic cancer, susceptibility to, 3
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.