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rs28939717

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs28939717(A;G)
Make rs28939717(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position184136687
GeneEIF2B5
is asnp
is mentioned by
dbSNPrs28939717
ebirs28939717
HLIrs28939717
Exacrs28939717
Varsomers28939717
Maprs28939717
PheGenIrs28939717
hapmaprs28939717
1000 genomesrs28939717
hgdprs28939717
ensemblrs28939717
gopubmedrs28939717
geneviewrs28939717
scholarrs28939717
googlers28939717
pharmgkbrs28939717
gwascentralrs28939717
openSNPrs28939717
23andMers28939717
23andMe allrs28939717
SNP Nexus

SNPshotrs28939717
SNPdbers28939717
MSV3drs28939717
GWAS Ctlgrs28939717
GMAF0.0004591
Max Magnitude0
OMIM603945
DescLEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
Variant0001
Relatedalso
ClinVar
Risk rs28939717(G;G)
Alt rs28939717(G;G)
Reference rs28939717(A;A)
Significance Pathogenic
Disease Leukoencephalopathy with vanishing white matter
Variation info
Gene EIF2B5
CLNDBN Leukoencephalopathy with vanishing white matter
Reversed 0
HGVS NC_000003.11:g.183854475A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000006305.3,


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

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

GET Evidence
EIF2B5-T91A
aa_change Thr91Ala
aa_change_short T91A
impact pathogenic
qualified_impact High clinical importance, Likely pathogenic
overall_frequency 0.0078125
summary Recessive, reported to cause leukoencephalopathy with vanishing white matter (a degenerative brain disease that manifests in childhood). Published observations of this variant were all linked to a common haplotype, indicating a single founder mutation, and carriers all had ancestors that lived in a rural region in the eastern part of the Netherlands.