DNAAF19
Chr 17ARdynein axonemal assembly factor 19
Also known as: CCDC103, CILD17, PR46b, SMH
The protein is a dynein-attachment factor that enables protein homodimerization and is required for axonemal dynein complex assembly and cilia motility. Biallelic mutations cause primary ciliary dyskinesia 17, an autosomal recessive disorder resulting from defective outer dynein arm function leading to impaired cilium movement and disrupted left-right body asymmetry.
Primary Disease Associations & Inheritance
Definitive — sufficient evidence for diagnostic panels
Some data sources returned errors (1)
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
218 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 | 5 | 0 | 18 | 0 | 23 |
Likely Pathogenic | 9 | 2 | 3 | 0 | 14 |
VUS | 1 | 55 | 24 | 1 | 81 |
Likely Benign | 1 | 9 | 16 | 53 | 79 |
Benign | 0 | 1 | 7 | 0 | 8 |
Conflicting | — | 9 | |||
| Total | 16 | 67 | 68 | 54 | 214 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
DNAAF19 · 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