C12ORF56
Chr 12chromosome 12 open reading frame 56
The protein encoded by this gene is poorly characterized, with limited functional data available. Biallelic mutations cause a severe neurodevelopmental disorder characterized by global developmental delay, intellectual disability, seizures, and brain malformations including microcephaly and corpus callosum abnormalities. This follows an autosomal recessive inheritance pattern with early childhood onset of neurological symptoms.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
C12ORF56 · 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