Gene entry
EIF2B5
eukaryotic translation initiation factor 2B subunit epsilon
- Chromosome
- 3
- Cytoband
- 3q27.1
- Variants (rsID)
- 11
EIF2B5 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 3 (region 3q27.1). Its official name is “eukaryotic translation initiation factor 2B subunit epsilon”. The reference table lists 11 variants (rsID) for this gene.
Clinically classified variants
5 reference-table entries with clinical significance.
- rs843358Benignsingle nucleotide variantVanishing white matter disease
- rs113994048Pathogenicsingle nucleotide variantVanishing white matter disease|Inborn genetic diseases
- rs113994049Pathogenicsingle nucleotide variantOvarioleukodystrophy|Vanishing white matter disease|See cases
- rs113994053Pathogenicsingle nucleotide variantVanishing white matter disease
- rs113994054Pathogenicsingle nucleotide variantVanishing white matter disease
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.