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Gene entry

MPZ

myelin protein zero

Chromosome
1
Cytoband
1q23.3
Variants (rsID)
23

MPZ is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1q23.3). Its official name is “myelin protein zero”. The reference table lists 23 variants (rsID) for this gene.

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Clinically classified variants

21 reference-table entries with clinical significance.

  • rs34307129Benignsingle nucleotide variantCharcot-Marie-Tooth disease type 4E|Roussy-Lévy syndrome|Charcot-Marie-Tooth disease dominant intermediate D|Charcot-Marie-Tooth disease, type I|Neuropathy, congenital hypomyelinating, 2|Charcot-Marie-Tooth disease type 1B|Charcot-Marie-Tooth disease
  • rs121913605Conflicting interpretationssingle nucleotide variantCharcot-Marie-Tooth disease type 2I|Charcot-Marie-Tooth disease, type I|Roussy-Lévy syndrome
  • rs121913609Conflicting interpretationssingle nucleotide variantCharcot-Marie-Tooth disease type 2J|Charcot-Marie-Tooth disease, type I
  • rs202176679Conflicting interpretationssingle nucleotide variantCharcot-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
  • rs267607241Conflicting interpretationssingle nucleotide variantCharcot-Marie-Tooth disease, type I|Charcot-Marie-Tooth disease
  • rs281865127Conflicting interpretationssingle nucleotide variantCharcot-Marie-Tooth disease type 1B|Charcot-Marie-Tooth disease, type I
  • rs121913588Likely pathogenicsingle nucleotide variantCharcot-Marie-Tooth disease type 1B|Charcot-Marie-Tooth disease, type I
  • rs121913585Pathogenicsingle nucleotide variantDejerine-Sottas syndrome, autosomal dominant|Dejerine-Sottas disease|Charcot-Marie-Tooth disease, type I
  • rs121913586Pathogenicsingle nucleotide variantDejerine-Sottas syndrome, autosomal dominant|Dejerine-Sottas disease|7 conditions|Charcot-Marie-Tooth disease, type I
  • rs121913587Pathogenicsingle nucleotide variantCharcot-Marie-Tooth disease type 1B|Dejerine-Sottas disease
  • rs121913590Pathogenicsingle nucleotide variantCharcot-Marie-Tooth disease type 1B|Charcot-Marie-Tooth disease, type I
  • rs121913594Pathogenicsingle nucleotide variantCharcot-Marie-Tooth disease type 1B|Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease, type I
  • rs121913601Pathogenicsingle nucleotide variantCharcot-Marie-Tooth disease, type 1b, with focally folded myelin sheaths|Charcot-Marie-Tooth disease type 1B|Charcot-Marie-Tooth disease, type I|Charcot-Marie-Tooth disease
  • rs121913603Pathogenicsingle nucleotide variantCharcot-Marie-Tooth disease type 1B|Charcot-Marie-Tooth disease, type I|7 conditions
  • rs281865128Pathogenicsingle nucleotide variantCharcot-Marie-Tooth disease type 1B|Charcot-Marie-Tooth disease, type I|Charcot-Marie-Tooth disease
  • rs371856018Pathogenicsingle nucleotide variantCharcot-Marie-Tooth disease, type I
  • rs770546306Pathogenicsingle nucleotide variantCharcot-Marie-Tooth disease, type I|Charcot-Marie-Tooth disease
  • rs864622732Pathogenicsingle nucleotide variantCharcot-Marie-Tooth disease, type I|Charcot-Marie-Tooth disease
  • rs267607242Uncertain significancesingle nucleotide variantCharcot-Marie-Tooth disease
  • rs267607245Uncertain significancesingle nucleotide variantCharcot-Marie-Tooth disease, type I
  • rs267607246Uncertain significancesingle nucleotide variantCharcot-Marie-Tooth disease, type I

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.