Variant: rs113994049 

    present in Gene: EIF2B5
    present in Chromosome: 3
    Position on Chromosome: 184137637
    Alleles of this Variant: G/A

rs113994049 in EIF2B5 gene and Childhood Ataxia with Central Nervous System Hypomyelinization PMID 12707859 2003 Ovarian failure related to eukaryotic initiation factor 2B mutations.

PMID 20975056 2010 Genotype-phenotype correlation in vanishing white matter disease.

PMID 24938145 2014 Vanishing white matter disease presenting as opsoclonus myoclonus syndrome in childhood--a case report and review of the literature.

PMID 22952606 2012 CSF N-glycan profiles to investigate biomarkers in brain developmental disorders: application to leukodystrophies related to eIF2B mutations.

PMID 22699478 2011 Ovarioleukodystrophy: report of a case with the c.338G>A (p.Arg113His) mutation on exon 3 and the c.896G>A (p.Arg299His) mutation on exon 7 of the EIF2B5 gene.