Variant (rsID / SNP)

rs132630281

rs132630281 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PLP1. Clinical significance in the table: Pathogenic.

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Reference-table entries

PLP1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xq22.2
HGVS: NM_000533.5(PLP1):c.655G>T (p.Val219Phe)
Allele change: Silent

Associated conditions / phenotypes

Pelizaeus-Merzbacher disease

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.