Variant (rsID / SNP)

rs104894621

rs104894621 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PMP22. Location: chromosome 17, position 15,142,892. Clinical significance in the table: Pathogenic.

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Reference-table entries

PMP22Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 17:15142892
Cytoband: 17p12
HGVS: NM_000304.4(PMP22):c.215C>T (p.Ser72Leu)
Allele change: Missense_S72L

Associated conditions / phenotypes

Dejerine-Sottas syndrome, autosomal dominant|Charcot-Marie-Tooth disease, type I|Inborn genetic diseases|Charcot-Marie-Tooth disease, type IA

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.