Variant (rsID / SNP)

rs878853113

rs878853113 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PMP22. Location: chromosome 17, position 15,142,862. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PMP22Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 17:15142862
Cytoband: 17p12
HGVS: NM_000304.4(PMP22):c.245T>C (p.Leu82Pro)
Allele change: Missense_L82P

Associated conditions / phenotypes

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.