Variant (rsID / SNP)
rs104894619
rs104894619 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PMP22. Location: chromosome 17, position 15,134,364. 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
- 17:15134364
- Cytoband
- 17p12
- HGVS
- NM_000304.4(PMP22):c.353C>T (p.Thr118Met)
- Allele change
- Missense_T118M
Associated conditions / phenotypes
Charcot-Marie-Tooth disease, type 1a, autosomal recessive|Hereditary liability to pressure palsies|Charcot-Marie-Tooth disease, type IA|Charcot-Marie-Tooth disease, type I|Charcot-Marie-Tooth disease|Toe walking
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.