rs113994049

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs113994049(A;A)

Make rs113994049(A;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

184137637

Gene

EIF2B5

is a	snp
is	mentioned by
dbSNP	rs113994049
dbSNP (classic)	rs113994049
ClinGen	rs113994049
ebi	rs113994049
HLI	rs113994049
Exac	rs113994049
Gnomad	rs113994049
Varsome	rs113994049
LitVar	rs113994049
Map	rs113994049
PheGenI	rs113994049
Biobank	rs113994049
1000 genomes	rs113994049
hgdp	rs113994049
ensembl	rs113994049
geneview	rs113994049
scholar	rs113994049
google	rs113994049
pharmgkb	rs113994049
gwascentral	rs113994049
openSNP	rs113994049
23andMe	rs113994049
SNPshot	rs113994049
SNPdbe	rs113994049
MSV3d	rs113994049
GWAS Ctlg	rs113994049

GMAF

0.0004591

Max Magnitude

0

OMIM	603945
Desc
Variant	0004
Related	also

ClinVar
Risk	rs113994049(A;A)
Alt	rs113994049(A;A)
Reference	Rs113994049(G;G)
Significance	Pathogenic
Disease	Leukoencephalopathy with vanishing white matter Ovarioleukodystrophy not provided
Variation	info
Gene	EIF2B5
CLNDBN	Leukoencephalopathy with vanishing white matter Ovarioleukodystrophy not provided
Reversed	0
HGVS	NC_000003.11:g.183855425G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006308.4, RCV000006309.3, RCV000254893.2,

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

[PMID 12707859] Ovarian failure related to eukaryotic initiation factor 2B mutations.

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

[PMID 14694060] Leukoencephalopathy with vanishing white matter:: an adult onset case.

[PMID 15136689] Arg113His mutation in eIF2Bepsilon as cause of leukoencephalopathy in adults.