DNAAF1 Chromosome 16
Dynein axonemal assembly factor 1
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What This Gene Does
The protein encoded by this gene is cilium-specific and is required for the stability of the ciliary architecture. It is involved in the regulation of microtubule-based cilia and actin-based brush border microvilli. Mutations in this gene are associated with primary ciliary dyskinesia-13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Gene Info
Gene Group
Axonemal dynein assembly factors
Locus Type
gene with protein product
Location
16q24.1
Ensembl
ENSG00000154099
Associated Conditions (9)
Primary ciliary dyskinesia 13
Primary ciliary dyskinesia
Heterotaxy
DNAAF1-related disorder
Ovarian serous cystadenocarcinoma
Uterine corpus endometrial carcinoma
Clear cell carcinoma of kidney
Kartagener syndrome
Respiratory ciliopathies including non-CF bronchiectasis
Key Variants
RS1014231886
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 13, Primary ciliary dyskinesia, Primary ciliary dyskinesia 13
Health Risk
RS1024875120
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS112114400
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia 13, Primary ciliary dyskinesia
Health Risk
RS117114021
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia 13, Primary ciliary dyskinesia
Health Risk
RS137862641
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS138838276
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS139519641
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia 13, Heterotaxy
Health Risk
RS139566676
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS140386513
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia 13, Primary ciliary dyskinesia
Health Risk
RS141074491
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia 13, Primary ciliary dyskinesia
Health Risk
RS144018942
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia 13, Primary ciliary dyskinesia
Health Risk
RS144034147
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia 13, Primary ciliary dyskinesia
Health Risk
All Variants (92)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1014231886 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 13, Primary ciliary dyskinesia, Primary ciliary dyskinesia 13 |
| RS1024875120 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS112114400 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia 13, Primary ciliary dyskinesia |
| RS117114021 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia 13, Primary ciliary dyskinesia |
| RS137862641 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS138838276 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS139519641 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia 13, Heterotaxy |
| RS139566676 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS140386513 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia 13, Primary ciliary dyskinesia |
| RS141074491 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia 13, Primary ciliary dyskinesia |
| RS144018942 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia 13, Primary ciliary dyskinesia |
| RS144034147 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia 13, Primary ciliary dyskinesia |
| RS145469545 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia 13, DNAAF1-related disorder |
| RS145680314 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia 13, DNAAF1-related disorder |
| RS145973397 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia 13, DNAAF1-related disorder |
| RS146725281 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS147393144 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS147804813 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia 13, Primary ciliary dyskinesia |
| RS148387367 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia 13, Primary ciliary dyskinesia |
| RS148674729 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia 13, Primary ciliary dyskinesia |
| RS148990251 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia 13, Primary ciliary dyskinesia |
| RS192432193 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS193291760 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS199727292 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS200109125 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 13, Primary ciliary dyskinesia, Primary ciliary dyskinesia 13 |
| RS200286840 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 13, Primary ciliary dyskinesia, Primary ciliary dyskinesia 13 |
| RS200487337 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia 13, Uterine corpus endometrial carcinoma |
| RS201504436 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS201519478 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia 13, DNAAF1-related disorder |
| RS2088633060 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS368651695 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 13, Primary ciliary dyskinesia, Primary ciliary dyskinesia 13 |
| RS370128838 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 13, Primary ciliary dyskinesia, Primary ciliary dyskinesia 13 |
| RS370819090 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 13, Primary ciliary dyskinesia, Primary ciliary dyskinesia 13 |
| RS373512514 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS373515859 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia 13, DNAAF1-related disorder |
| RS374704486 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS375586650 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 13, Primary ciliary dyskinesia, Primary ciliary dyskinesia 13 |
| RS376164700 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS558403928 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS750513286 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS764066045 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia 13, Clear cell carcinoma of kidney |
| RS764511452 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 13, Primary ciliary dyskinesia, DNAAF1-related disorder |
| RS765784723 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 13, Primary ciliary dyskinesia, Primary ciliary dyskinesia 13 |
| RS769877978 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia 13, Primary ciliary dyskinesia |
| RS772036783 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 13, Primary ciliary dyskinesia, Primary ciliary dyskinesia 13 |
| RS774606576 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia 13, DNAAF1-related disorder |
| RS775618173 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS775816960 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS79772571 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia 13, Primary ciliary dyskinesia |
| RS886052366 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 13, Primary ciliary dyskinesia, Primary ciliary dyskinesia 13 |