{{Rsnum
|rsid=113994043
|Chromosome=3
|Orientation=plus
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene=EIF2B5
|position=184135551
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=EIF2B5
}}{{omim
|id=603945
|rsnum=113994043
|variant=0010
}}{{ClinVar
|rsid=113994043
|Reversed=0
|FwdREF=T
|FwdALT=G
|REF=T
|ALT=G
|RSPOS=183853339
|CHROM=3
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050168000000000002110100
|GENEINFO=EIF2B5:8893
|GENE_NAME=EIF2B5
|GENE_ID=8893
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000003.11:g.183853339T>G
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=0
|CLNSRCID=603945.0010
|CLNSIG=5
|CLNCUI=C1858991
|CLNDBN=Leukoencephalopathy with vanishing white matter
|Disease=Leukoencephalopathy with vanishing white matter
|CLNACC=RCV000006315.1
|Tags=PM;PMC;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1258:C1858991:603896:135
}}{{PMID Auto
|PMID=17646634
|Title=Progressive megalencephaly due to specific EIF2Bepsilon mutations in two unrelated families.
}}