Variant (rsID / SNP)
rs864622180
rs864622180 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PMP22. Location: chromosome 17, position 15,162,451. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
PMP22Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- Deletion
- Chromosome / position
- 17:15162451
- Cytoband
- 17p12
- HGVS
- NM_000304.4(PMP22):c.138del (p.Ser47fs)
Associated conditions / phenotypes
Charcot-Marie-Tooth disease, type I|Charcot-Marie-Tooth disease
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.