Variant (rsID / SNP)
rs281865160
rs281865160 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WRN. Location: chromosome 8, position 31,007,871. Clinical significance in the table: Pathogenic.
Reference-table entries
WRNPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Deletion
- Chromosome / position
- 8:31007871
- Cytoband
- 8p12
- HGVS
- NM_000553.6(WRN):c.3590del (p.Asn1197fs)
Associated conditions / phenotypes
Werner syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.