TBC1D32
Chr 6ARTBC1 domain family member 32
Also known as: ALHSA, BROMI, C6orf170, C6orf171, OFD9, RP100
This protein is required for high-level sonic hedgehog responses in the developing neural tube and controls primary cilium structure by coordinating assembly of the ciliary membrane and axoneme. Mutations cause autosomal recessive ciliopathies including Alsahan-Harris syndrome, orofaciodigital syndrome IX, and retinitis pigmentosa 100. These conditions primarily affect craniofacial development, limb formation, and retinal function due to disrupted ciliary signaling pathways.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
403 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 | 11 | 0 | 26 | 0 | 37 |
Likely Pathogenic | 7 | 0 | 4 | 0 | 11 |
VUS | 3 | 202 | 17 | 2 | 224 |
Likely Benign | 0 | 15 | 23 | 28 | 66 |
Benign | 0 | 13 | 15 | 10 | 38 |
Conflicting | — | 3 | |||
| Total | 21 | 230 | 85 | 40 | 379 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
TBC1D32 · 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