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Variant (rsID / SNP)

rs121913601

MPZ

rs121913601 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MPZ. Location: chromosome 1, position 161,277,049. Clinical significance in the table: Pathogenic.

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Reference-table entries

MPZPathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
1:161277049
Cytoband
1q23.3
HGVS
NM_000530.8(MPZ):c.233C>T (p.Ser78Leu)
Allele change
Missense_S78L

Associated conditions / phenotypes

Charcot-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

Public references

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