Variant (rsID / SNP)
rs121913605
rs121913605 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MPZ. Location: chromosome 1, position 161,277,096. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
MPZConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:161277096
- Cytoband
- 1q23.3
- HGVS
- NM_000530.8(MPZ):c.186C>G (p.Ile62Met)
- Allele change
- Missense_I62M
Associated conditions / phenotypes
Charcot-Marie-Tooth disease type 2I|Charcot-Marie-Tooth disease, type I|Roussy-Lévy syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.