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rs113994022

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs113994022(C;T)
Make rs113994022(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position44978349
GeneEIF2B3
is asnp
is mentioned by
dbSNPrs113994022
ebirs113994022
HLIrs113994022
Exacrs113994022
Varsomers113994022
Maprs113994022
PheGenIrs113994022
hapmaprs113994022
1000 genomesrs113994022
hgdprs113994022
ensemblrs113994022
gopubmedrs113994022
geneviewrs113994022
scholarrs113994022
googlers113994022
pharmgkbrs113994022
gwascentralrs113994022
openSNPrs113994022
23andMers113994022
23andMe allrs113994022
SNP Nexus

SNPshotrs113994022
SNPdbers113994022
MSV3drs113994022
GWAS Ctlgrs113994022
Max Magnitude0
OMIM606273
Desc
Variant0003
Relatedalso
ClinVar
Risk rs113994022(T;T)
Alt rs113994022(T;T)
Reference Rs113994022(C;C)
Significance Pathogenic
Disease Leukoencephalopathy with vanishing white matter
Variation info
Gene EIF2B3
CLNDBN Leukoencephalopathy with vanishing white matter
Reversed 1
HGVS NC_000001.10:g.45444021G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000004689.2,


[PMID 11835386] Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter.


[PMID 14572143] Leukoencephalopathy with vanishing white matter: from magnetic resonance imaging pattern to five genes.