{{Rsnum
|rsid=119474039
|Chromosome=1
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=EIF2B3
|position=44875634
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=EIF2B3
}}{{omim
|id=606273
|rsnum=119474039
|variant=0004
}}{{ClinVar
|rsid=119474039
|Reversed=1
|FwdREF=T
|FwdALT=C
|REF=A
|ALT=G
|RSPOS=44875634
|CHROM=1
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050060000a05000002110100
|GENEINFO=EIF2B3:8891
|GENE_NAME=EIF2B3
|GENE_ID=8891
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.44875634A>G
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NM_020365.4:c.1037T>C; 606273.0004
|CLNSIG=5
|CLNCUI=C1858991
|CLNDBN=Leukoencephalopathy with vanishing white matter
|Disease=Leukoencephalopathy with vanishing white matter
|CLNACC=RCV000004690.1
|Tags=RV;PM;NSM;REF;ASP;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1258:C1858991:603896:ORPHA135
}}