Variant (rsID / SNP)
rs28936682
rs28936682 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PMP22. Location: chromosome 17, position 15,134,248. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
PMP22Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:15134248
- Cytoband
- 17p12
- HGVS
- NM_000304.4(PMP22):c.469C>T (p.Arg157Trp)
- Allele change
- Missense_R157W
Associated conditions / phenotypes
Autosomal recessive Dejerine-Sottas syndrome|Charcot-Marie-Tooth disease type 1E|PMP22-Related Disorders|Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease, type I|Hereditary liability to pressure palsies
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.