CDC123
Chr 10cell division cycle 123
Also known as: C10orf7, D123
The CDC123 protein functions as an ATP-dependent chaperone that facilitates assembly of the eIF2 translation initiation complex by binding to its gamma subunit and enabling proper association with the alpha and beta subunits. Mutations in CDC123 cause autosomal recessive developmental and epileptic encephalopathy with severe developmental delay, infantile spasms, and microcephaly. This gene shows low constraint against loss-of-function variants, consistent with recessive inheritance where heterozygous carriers are typically unaffected.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
99 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 20 | 0 | 20 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 0 | 35 | 7 | 0 | 42 |
Likely Benign | 0 | 1 | 0 | 1 | 2 |
Benign | 0 | 0 | 3 | 0 | 3 |
| Total | 0 | 36 | 30 | 1 | 67 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
CDC123 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools