Variant (rsID / SNP)

rs1126707

rs1126707 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PLP1. Clinical significance in the table: Benign.

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Reference-table entries

PLP1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Cytoband: Xq22.2
HGVS: NM_000533.5(PLP1):c.609T>C (p.Asp203=)
Allele change: Silent

Associated conditions / phenotypes

History of neurodevelopmental disorder|Hereditary spastic paraplegia 2|Pelizaeus-Merzbacher disease|Hereditary spastic paraplegia

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.