EIF2B5-DT

Chr 3

EIF2B5 divergent transcript

NCBI Gene: 105374249ENSG00000272721

ResearchGenerating clinical summary…
Clinical Summary— EIF2B5-DT
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ClinVar Variants
2 total variants — no pathogenic classifications of 2 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

2 submitted variants in ClinVar

ClinVar

Classification Summary

Benign2
2
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
0
0
0
Likely Pathogenic
0
0
0
0
0
VUS
0
0
0
0
0
Likely Benign
0
0
0
0
0
Benign
0
0
2
0
2
Total00202

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

17 pathogenic / likely-pathogenic (of 19) ClinVar copy-number / structural variants overlap EIF2B5-DT — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →

Protein Context — Lollipop Plot

EIF2B5-DT · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients