Variant (rsID / SNP)
rs267607008
rs267607008 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WRN. Location: chromosome 8, position 30,922,478. Clinical significance in the table: no interpretation for the single variant.
Reference-table entries
WRNOther
- Clinical significance (as recorded)
- no interpretation for the single variant
- Variant type
- single nucleotide variant
- Chromosome / position
- 8:30922478
- Cytoband
- 8p12
- HGVS
- NM_000553.6(WRN):c.403A>G (p.Lys135Glu)
- Allele change
- Missense_K135E
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.