Variant (rsID / SNP)

rs132630295

rs132630295 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PLP1. Clinical significance in the table: Uncertain significance.

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Reference-table entries

PLP1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Cytoband: Xq22.2
HGVS: NM_000533.5(PLP1):c.409C>T (p.Arg137Trp)
Allele change: Silent

Associated conditions / phenotypes

Hereditary spastic paraplegia 2

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.