{{Rsnum
|rsid=113994049
|Gene=EIF2B5
|Chromosome=3
|position=184137637
|Orientation=plus
|GMAF=0.0004591
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=EIF2B5
}}{{omim
|id=603945
|rsnum=113994049
|variant=0004
}}{{ClinVar
|rsid=113994049
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=183855425
|CHROM=3
|GMAF=0.0005
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050168000000040016110100
|GENEINFO=EIF2B5:8893
|GENE_NAME=EIF2B5
|GENE_ID=8893
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000003.11:g.183855425G>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=0
|CLNSRCID=603945.0004
|CLNSIG=5
|CLNCUI=C1858991
|CLNDBN=Leukoencephalopathy with vanishing white matter; Ovarioleukodystrophy
|Disease=Leukoencephalopathy with vanishing white matter; Ovarioleukodystrophy
|CLNACC=RCV000006308.1; RCV000006309.1
|Tags=PM;PMC;SLO;VLD;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9995; 0.0004591
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet; MedGen
|CLNDSDBID=NBK1258:C1858991:603896:135; C1847967
|COMMON=0
}}{{PMID Auto
|PMID=11704758
|Title=Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter.
}}

{{PMID Auto
|PMID=12707859
|Title=Ovarian failure related to eukaryotic initiation factor 2B mutations.
|OA=1
}}

{{PMID Auto
|PMID=14572143
|Title=Leukoencephalopathy with vanishing white matter: from magnetic resonance imaging pattern to five genes.
}}

{{PMID Auto
|PMID=14694060
|Title=Leukoencephalopathy with vanishing white matter:: an adult onset case.
}}

{{PMID Auto
|PMID=15136689
|Title=Arg113His mutation in eIF2Bepsilon as cause of leukoencephalopathy in adults.
}}