Variant: rs104894425 

    present in Gene: EIF2B2
    present in Chromosome: 14
    Position on Chromosome: 75005906
    Alleles of this Variant: A/G

rs104894425 in EIF2B2 gene and Childhood Ataxia with Central Nervous System Hypomyelinization PMID 21484434 2011 Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5.

PMID 22285377 2012 Vanishing white matter disease caused by EIF2B2 mutation with the presentation of an adrenoleukodystrophy phenotype.

PMID 22729508 2013 Vanishing white matter disease: an Italian case with A638G mutation in exon 5 of EIF2B2 gene, an unusual early onset and a long course.

PMID 15060152 2004 Mutations linked to leukoencephalopathy with vanishing white matter impair the function of the eukaryotic initiation factor 2B complex in diverse ways.

PMID 15136673 2004 The effect of genotype on the natural history of eIF2B-related leukodystrophies.

PMID 11704758 2001 Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter.

PMID 15776425 2005 Identification of ten novel mutations in patients with eIF2B-related disorders.

PMID 12707859 2003 Ovarian failure related to eukaryotic initiation factor 2B mutations.