DNAAF19 Chromosome 17
Dynein axonemal assembly factor 19
Upload your DNA to see your personal genotypes for variants in DNAAF19.
What This Gene Does
Enables protein homodimerization activity. Involved in axonemal dynein complex assembly; cilium movement; and determination of left/right symmetry. Predicted to be located in axoneme. Predicted to be part of outer dynein arm. Implicated in primary ciliary dyskinesia 17. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Axonemal dynein assembly factors
Locus Type
gene with protein product
Location
17q21.31
Ensembl
ENSG00000167131
Associated Conditions (10)
Primary ciliary dyskinesia
Primary ciliary dyskinesia 17
Diarrhea 12
with microvillus atrophy
Infertility disorder
CCDC103-related disorder
Respiratory ciliopathies including non-CF bronchiectasis
Hereditary spastic paraplegia 50
Absent inner and outer dynein arms
Situs inversus
Key Variants
RS112994687
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia 17, Primary ciliary dyskinesia
Health Risk
RS142342712
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia 17, Primary ciliary dyskinesia
Health Risk
RS146015856
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia 17, Primary ciliary dyskinesia
Health Risk
RS148834205
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS557822238
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 17, Primary ciliary dyskinesia, Primary ciliary dyskinesia 17
Health Risk
RS575078578
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia 17, Primary ciliary dyskinesia
Health Risk
RS752532336
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 17, Primary ciliary dyskinesia, Primary ciliary dyskinesia 17
Health Risk
RS763062802
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 17, Primary ciliary dyskinesia, Primary ciliary dyskinesia 17
Health Risk
RS1597843267
Likely pathogenic
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS2508896569
Likely pathogenic
Primary ciliary dyskinesia 17, Primary ciliary dyskinesia 17
Health Risk
RS1060503433
Pathogenic
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS1470852605
Pathogenic
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
All Variants (25)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS112994687 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia 17, Primary ciliary dyskinesia |
| RS142342712 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia 17, Primary ciliary dyskinesia |
| RS146015856 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia 17, Primary ciliary dyskinesia |
| RS148834205 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS557822238 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 17, Primary ciliary dyskinesia, Primary ciliary dyskinesia 17 |
| RS575078578 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia 17, Primary ciliary dyskinesia |
| RS752532336 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 17, Primary ciliary dyskinesia, Primary ciliary dyskinesia 17 |
| RS763062802 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 17, Primary ciliary dyskinesia, Primary ciliary dyskinesia 17 |
| RS1597843267 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2508896569 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia 17, Primary ciliary dyskinesia 17 |
| RS1060503433 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1470852605 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS147738533 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Diarrhea 12, with microvillus atrophy |
| RS1567763865 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2051550027 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2508900110 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2508900227 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2508900598 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS587776910 | Health Risk | Pathogenic | Primary ciliary dyskinesia 17, Primary ciliary dyskinesia 17 |
| RS747091524 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia 17, Primary ciliary dyskinesia |
| RS1292757961 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia 17, Primary ciliary dyskinesia |
| RS141004815 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS145457535 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia 17, Primary ciliary dyskinesia, Infertility disorder |
| RS746242380 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia, Absent inner and outer dynein arms, Situs inversus |
| RS759224168 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia 17, Primary ciliary dyskinesia |