Variant: rs587776888 

    present in Gene: GJC2
    present in Chromosome: 1
    Position on Chromosome: 228149860
    Alleles of this Variant: A/G

rs587776888 in GJC2 gene and Leukodystrophy, Hypomyelinating, 2 PMID 20695017 2010 Disrupted SOX10 regulation of GJC2 transcription causes Pelizaeus-Merzbacher-like disease.

PMID 24374284 2014 GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease.

PMID 27780564 2016 Corrigendum to "GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease" [Mol. Genet. Metab. 111 (2014) 393-398].

rs587776888 in GJC2 gene and Spastic Paraplegia PMID 20695017 2010 Disrupted SOX10 regulation of GJC2 transcription causes Pelizaeus-Merzbacher-like disease.

PMID 24374284 2014 GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease.

PMID 21959080 2011 Promoter mutation is a common variant in GJC2-associated Pelizaeus-Merzbacher-like disease.

PMID 23142375 2013 Molecular confirmation of founder mutation c.-167A>G in Tunisian patients with PMLD disease.

PMID 21246605 2012 Relevance of GJC2 promoter mutation in Pelizaeus-Merzbacher-like disease.