DNAI7
Chr 12dynein axonemal intermediate chain 7
Also known as: CASC1, CFAP94, LAS1, PPP1R54
This protein is predicted to bind beta-tubulin and microtubules as part of the axonemal dynein complex that regulates cilia function and may also regulate the cell cycle. Mutations in DNAI7 cause primary ciliary dyskinesia, a disorder affecting the respiratory system, fertility, and organ positioning that follows autosomal recessive inheritance. The gene shows no intolerance to loss-of-function variants in the general population.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
168 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 | 36 | 0 | 36 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 0 | 99 | 7 | 0 | 106 |
Likely Benign | 0 | 7 | 6 | 1 | 14 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 106 | 51 | 1 | 158 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
DNAI7 · 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