TBC1D30
Chr 12TBC1 domain family member 30
The protein acts as a GTPase-activating protein for Rab family proteins and regulates cilium assembly. Mutations cause autosomal recessive intellectual disability with seizures and brain abnormalities, typically presenting in infancy or early childhood. This gene is highly constrained against loss-of-function variants (pLI 0.89, LOEUF 0.35), indicating intolerance to protein disruption.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
TBC1D30 · 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 →External Resources
Links to major genomics databases and tools