Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs281865127

MPZ

rs281865127 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MPZ. Location: chromosome 1, position 161,276,557. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

MPZConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:161276557
Cytoband
1q23.3
HGVS
NM_000530.8(MPZ):c.389A>G (p.Lys130Arg)
Allele change
Missense_K130R

Associated conditions / phenotypes

Charcot-Marie-Tooth disease type 1B|Charcot-Marie-Tooth disease, type I

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.