Variant: rs28939717 

    present in Gene: LOC105374249;EIF2B5
    present in Chromosome: 3
    Position on Chromosome: 184136687
    Alleles of this Variant: A/G

rs28939717 in LOC105374249;EIF2B5 gene and Childhood Ataxia with Central Nervous System Hypomyelinization PMID 15776425 2005 Identification of ten novel mutations in patients with eIF2B-related disorders.

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

PMID 12325082 2002 Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus.

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

PMID 21484434 2011 Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5.

PMID 21560189 2011 Severity of vanishing white matter disease does not correlate with deficits in eIF2B activity or the integrity of eIF2B complexes.

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

PMID 19158808 2009 Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease.