EIF2B3 Chromosome 1
Eukaryotic translation initiation factor 2B subunit gamma
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What This Gene Does
The protein encoded by this gene is one of the subunits of initiation factor eIF2B, which catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP. It has also been found to function as a cofactor of hepatitis C virus internal ribosome entry site-mediated translation. Mutations in this gene have been associated with leukodystrophy with vanishing white matter. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
Associated Conditions (4)
Vanishing white matter disease
EIF2B3-related disorder
Leukoencephalopathy with vanishing white matter 1
Leukoencephalopathy with vanishing white matter 3
Key Variants
RS138741202
Conflicting classifications of pathogenicity
Vanishing white matter disease, EIF2B3-related disorder, Vanishing white matter disease
Health Risk
RS142753066
Conflicting classifications of pathogenicity
Vanishing white matter disease, Vanishing white matter disease
Health Risk
RS151320540
Conflicting classifications of pathogenicity
Vanishing white matter disease, Vanishing white matter disease
Health Risk
RS188705026
Conflicting classifications of pathogenicity
Vanishing white matter disease, EIF2B3-related disorder, Vanishing white matter disease
Health Risk
RS3738247
Conflicting classifications of pathogenicity
Vanishing white matter disease, EIF2B3-related disorder, Vanishing white matter disease
Health Risk
RS538917969
Conflicting classifications of pathogenicity
Vanishing white matter disease, Leukoencephalopathy with vanishing white matter 1, Vanishing white matter disease
Health Risk
RS754415797
Conflicting classifications of pathogenicity
Leukoencephalopathy with vanishing white matter 3, Leukoencephalopathy with vanishing white matter 3
Health Risk
RS774696817
Conflicting classifications of pathogenicity
Vanishing white matter disease, Vanishing white matter disease
Health Risk
RS775634835
Conflicting classifications of pathogenicity
Vanishing white matter disease, EIF2B3-related disorder, Vanishing white matter disease
Health Risk
RS886046358
Conflicting classifications of pathogenicity
Vanishing white matter disease, Vanishing white matter disease
Health Risk
RS141988913
Likely pathogenic
Vanishing white matter disease, Leukoencephalopathy with vanishing white matter 3, Vanishing white matter disease
Health Risk
RS1643855445
Likely pathogenic
Vanishing white matter disease, Vanishing white matter disease
Health Risk
All Variants (20)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138741202 | Health Risk | Conflicting classifications of pathogenicity | Vanishing white matter disease, EIF2B3-related disorder, Vanishing white matter disease |
| RS142753066 | Health Risk | Conflicting classifications of pathogenicity | Vanishing white matter disease, Vanishing white matter disease |
| RS151320540 | Health Risk | Conflicting classifications of pathogenicity | Vanishing white matter disease, Vanishing white matter disease |
| RS188705026 | Health Risk | Conflicting classifications of pathogenicity | Vanishing white matter disease, EIF2B3-related disorder, Vanishing white matter disease |
| RS3738247 | Health Risk | Conflicting classifications of pathogenicity | Vanishing white matter disease, EIF2B3-related disorder, Vanishing white matter disease |
| RS538917969 | Health Risk | Conflicting classifications of pathogenicity | Vanishing white matter disease, Leukoencephalopathy with vanishing white matter 1, Vanishing white matter disease |
| RS754415797 | Health Risk | Conflicting classifications of pathogenicity | Leukoencephalopathy with vanishing white matter 3, Leukoencephalopathy with vanishing white matter 3 |
| RS774696817 | Health Risk | Conflicting classifications of pathogenicity | Vanishing white matter disease, Vanishing white matter disease |
| RS775634835 | Health Risk | Conflicting classifications of pathogenicity | Vanishing white matter disease, EIF2B3-related disorder, Vanishing white matter disease |
| RS886046358 | Health Risk | Conflicting classifications of pathogenicity | Vanishing white matter disease, Vanishing white matter disease |
| RS141988913 | Health Risk | Likely pathogenic | Vanishing white matter disease, Leukoencephalopathy with vanishing white matter 3, Vanishing white matter disease |
| RS1643855445 | Health Risk | Likely pathogenic | Vanishing white matter disease, Vanishing white matter disease |
| RS748937918 | Health Risk | Likely pathogenic | — |
| RS766866104 | Health Risk | Likely pathogenic | Leukoencephalopathy with vanishing white matter 3, Vanishing white matter disease, Leukoencephalopathy with vanishing white matter 3 |
| RS113994024 | Health Risk | Pathogenic | Leukoencephalopathy with vanishing white matter 3, Vanishing white matter disease, Leukoencephalopathy with vanishing white matter 3 |
| RS113994026 | Health Risk | Pathogenic | Leukoencephalopathy with vanishing white matter 3, Leukoencephalopathy with vanishing white matter 3 |
| RS397514647 | Health Risk | Pathogenic | Leukoencephalopathy with vanishing white matter 3, Leukoencephalopathy with vanishing white matter 3 |
| RS113994022 | Health Risk | Pathogenic/Likely pathogenic | Vanishing white matter disease, Leukoencephalopathy with vanishing white matter 3, EIF2B3-related disorder |
| RS119474039 | Health Risk | Pathogenic/Likely pathogenic | Vanishing white matter disease, Leukoencephalopathy with vanishing white matter 3, Vanishing white matter disease |
| RS752636698 | Health Risk | Pathogenic/Likely pathogenic | Vanishing white matter disease, Leukoencephalopathy with vanishing white matter 1, Vanishing white matter disease |