Variant: rs132630288 

    present in Gene: RAB9B;PLP1
    present in Chromosome: X
    Position on Chromosome: 103787904
    Alleles of this Variant: T/C

rs132630288 in RAB9B;PLP1 gene and SPASTIC PARAPLEGIA 2, X-LINKED (disorder) PMID 10319897 1999 Novel exon 3B proteolipid protein gene mutation causing late-onset spastic paraplegia type 2 with variable penetrance in female family members.

PMID 17438221 2007 Steroid-responsive neurologic relapses in a child with a proteolipid protein-1 mutation.

PMID 8780101 1996 Refined genetic mapping and proteolipid protein mutation analysis in X-linked pure hereditary spastic paraplegia.

PMID 8956049 1996 A novel mutation in exon 6 (F236S) of the proteolipid protein gene is associated with spastic paraplegia.

PMID 24103481 2014 A novel mutation in PLP1 causes severe hereditary spastic paraplegia type 2.

PMID 8012387 1994 X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus.

PMID 9489796 1998 X-linked spastic paraplegia due to a mutation (C506T; Ser169Phe) in exon 4 of the proteolipid protein gene (PLP).

PMID 15450775 2004 A case of complicated spastic paraplegia 2 due to a point mutation in the proteolipid protein 1 gene.

PMID 11093273 2000 Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Clinical European Network on Brain Dysmyelinating Disease.

PMID 7522741 1994 The rumpshaker mutation in spastic paraplegia.