CFAP184
Chr 4cilia and flagella associated protein 184
Also known as: CCDC96
CFAP184 encodes a protein that regulates ciliary beating by connecting radial spoke 3 to inner dynein arms and the nexin-dynein regulatory complex within the ciliary axoneme. Mutations cause primary ciliary dyskinesia, a disorder affecting the respiratory tract, fertility, and laterality determination with typical onset in early childhood. Primary ciliary dyskinesia follows an autosomal recessive inheritance pattern.
Some data sources returned errors (1)
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
183 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 | 0 | 0 | 80 | 0 | 80 |
Likely Pathogenic | 0 | 0 | 4 | 0 | 4 |
VUS | 1 | 93 | 2 | 0 | 96 |
Likely Benign | 0 | 3 | 0 | 0 | 3 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 1 | 96 | 86 | 0 | 183 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
CFAP184 · 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 →No open access results found
External Resources
Links to major genomics databases and tools