Variant (rsID / SNP)
rs17847577
rs17847577 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WRN. Location: chromosome 8, position 30,938,648. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
WRNPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 8:30938648
- Cytoband
- 8p12
- HGVS
- NM_000553.6(WRN):c.1105C>T (p.Arg369Ter)
- Allele change
- Nonsense_R369X
Associated conditions / phenotypes
Werner syndrome|Medulloblastoma
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.