Variant (rsID / SNP)

rs2233695

rs2233695 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PLP1. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

PLP1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Cytoband: Xq22.2
HGVS: NM_000533.5(PLP1):c.-31C>T
Allele change: Silent

Associated conditions / phenotypes

Hereditary spastic paraplegia 2|Pelizaeus-Merzbacher disease|Pelizaeus-Merzbacher disease, mild

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.