Variant (rsID / SNP)

rs11654383

rs11654383 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PMP22. Location: chromosome 17, position 15,133,114. Clinical significance in the table: Likely benign.

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Reference-table entries

PMP22Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 17:15133114
Cytoband: 17p12
HGVS: NM_000304.4(PMP22):c.*1120T>C
Allele change: Silent

Associated conditions / phenotypes

Charcot-Marie-Tooth disease, type I|Hereditary liability to pressure palsies

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.