Variant (rsID / SNP)
rs202176679
rs202176679 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MPZ. Location: chromosome 1, position 161,275,906. 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
- 1:161275906
- Cytoband
- 1q23.3
- HGVS
- NM_000530.8(MPZ):c.637G>C (p.Gly213Arg)
- Allele change
- Missense_G213R
Associated conditions / phenotypes
Charcot-Marie-Tooth disease dominant intermediate D|Charcot-Marie-Tooth disease type 4E|Roussy-Lévy syndrome|Charcot-Marie-Tooth disease, type I|Charcot-Marie-Tooth disease|Neuropathy, congenital hypomyelinating, 2|Charcot-Marie-Tooth disease type 1B
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.