C9ORF152
Chr 9chromosome 9 open reading frame 152
Also known as: bA470J20.2
This gene encodes a protein of unknown function. Mutations cause autosomal recessive developmental and epileptic encephalopathy with movement abnormalities, characterized by early-onset seizures, developmental delay, and dystonia. The gene shows minimal constraint against loss-of-function variants, consistent with the recessive inheritance pattern observed in affected patients.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
42 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 29 |
Likely Pathogenic | — | — | — | — | 5 |
VUS | — | — | — | — | 1 |
Likely Benign | — | — | — | — | 3 |
Benign | — | — | — | — | 0 |
| Total | — | 38 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
C9ORF152 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
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 →No open access results found
External Resources
Links to major genomics databases and tools