Variant: rs1553262438 

    present in Gene: GJC2
    present in Chromosome: 1
    Position on Chromosome: 228157899
    Alleles of this Variant: C/G

rs1553262438 in GJC2 gene and Spastic Paraplegia PMID 20513814 2010 Clinical neurophysiology in GJA12-related hypomyelination vs Pelizaeus-Merzbacher disease.

PMID 18094336 2008 GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease.