C4ORF46
Chr 4chromosome 4 open reading frame 46
Also known as: RCDG1
The protein encoded by this gene has an unknown function but is expressed across multiple tissues. Mutations cause autosomal recessive developmental delay with seizures and microcephaly, typically presenting in early childhood. The gene shows low constraint to loss-of-function variants, which is consistent with the recessive inheritance pattern observed in affected individuals.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
C4ORF46 · 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