Gene entry
PLP1
proteolipid protein 1
- Chromosome
- X
- Cytoband
- Xq22.2
- Variants (rsID)
- 23
PLP1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome X (region Xq22.2). Its official name is “proteolipid protein 1”. The reference table lists 23 variants (rsID) for this gene.
Clinically classified variants
20 reference-table entries with clinical significance.
- rs1126707Benignsingle nucleotide variantHistory of neurodevelopmental disorder|Hereditary spastic paraplegia 2|Pelizaeus-Merzbacher disease|Hereditary spastic paraplegia
- rs2233695Benignsingle nucleotide variantHereditary spastic paraplegia 2|Pelizaeus-Merzbacher disease|Pelizaeus-Merzbacher disease, mild
- rs132630279Likely pathogenicsingle nucleotide variantPelizaeus-Merzbacher disease
- rs132630294Likely pathogenicsingle nucleotide variantHereditary spastic paraplegia 2
- rs11543022Pathogenicsingle nucleotide variantPelizaeus-Merzbacher disease|Hereditary spastic paraplegia 2
- rs132630278Pathogenicsingle nucleotide variantPelizaeus-Merzbacher disease
- rs132630280Pathogenicsingle nucleotide variantPelizaeus-Merzbacher disease
- rs132630281Pathogenicsingle nucleotide variantPelizaeus-Merzbacher disease
- rs132630282Pathogenicsingle nucleotide variantPelizaeus-Merzbacher disease
- rs132630283Pathogenicsingle nucleotide variantPelizaeus-Merzbacher disease
- rs132630284Pathogenicsingle nucleotide variantPelizaeus-Merzbacher disease
- rs132630286Pathogenicsingle nucleotide variantPelizaeus-Merzbacher disease, connatal
- rs132630287Pathogenicsingle nucleotide variantHereditary spastic paraplegia 2
- rs132630288Pathogenicsingle nucleotide variantHereditary spastic paraplegia 2
- rs132630289Pathogenicsingle nucleotide variantPelizaeus-Merzbacher disease
- rs132630291Pathogenicsingle nucleotide variantHereditary spastic paraplegia 2
- rs132630292Pathogenicsingle nucleotide variantPelizaeus-Merzbacher disease, atypical|Hereditary spastic paraplegia 2
- rs132630293Pathogenicsingle nucleotide variantPelizaeus-Merzbacher disease, connatal
- rs864622194Pathogenicsingle nucleotide variantHereditary spastic paraplegia 2
- rs132630295Uncertain significancesingle nucleotide variantHereditary spastic paraplegia 2
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.