DNAAF5 Chromosome 7
Dynein axonemal assembly factor 5
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What This Gene Does
The protein encoded by this gene is essential for the preassembly or stability of axonemal dynein arms, and is found only in organisms with motile cilia and flagella. Mutations in this gene are associated with primary ciliary dyskinesia-18, a disorder characterized by abnormalities of motile cilia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2013]
Gene Info
Gene Group
"TOG domain containing|Axonemal dynein assembly factors"
Locus Type
gene with protein product
Location
7p22.3
Ensembl
ENSG00000164818
Associated Conditions (4)
Primary ciliary dyskinesia
Primary ciliary dyskinesia 18
DNAAF5-related disorder
Congenital heart disease
Key Variants
RS1314198845
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS137924231
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS138915052
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia 18, DNAAF5-related disorder
Health Risk
RS141955563
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS142141660
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS149139347
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS149610399
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia 18, Primary ciliary dyskinesia
Health Risk
RS149924115
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS200034358
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS200272840
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS201059622
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 18, Primary ciliary dyskinesia, Primary ciliary dyskinesia 18
Health Risk
RS370817681
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
All Variants (61)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS765025514 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS878855036 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS912460897 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS915848808 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS950490534 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS144405450 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia 18, Primary ciliary dyskinesia |
| RS1489856215 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia 18, Primary ciliary dyskinesia |
| RS1554255966 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia 18, Primary ciliary dyskinesia |
| RS1781507295 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia 18, Primary ciliary dyskinesia |
| RS2484204512 | Health Risk | Pathogenic/Likely pathogenic | DNAAF5-related disorder, Primary ciliary dyskinesia 18, DNAAF5-related disorder |
| RS397514561 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia 18, Primary ciliary dyskinesia, Primary ciliary dyskinesia 18 |