Variant (rsID / SNP)

rs121913594

rs121913594 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MPZ. Location: chromosome 1, position 161,276,704. 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: 1:161276704
Cytoband: 1q23.3
HGVS: NM_000530.8(MPZ):c.242A>G (p.His81Arg)
Allele change: Missense_H81R

Associated conditions / phenotypes

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

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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