ODAD3 Chromosome 19
Outer dynein arm docking complex subunit 3
Upload your DNA to see your personal genotypes for variants in ODAD3.
What This Gene Does
This gene encodes a protein containing coiled-coil domains. The encoded protein functions in outer dynein arm assembly and is required for motile cilia function. Mutations in this gene result in primary ciliary dyskinesia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]
Gene Info
Gene Group
Outer dynein arm docking complex subunits
Locus Type
gene with protein product
Location
19p13.2
Ensembl
ENSG00000198003
Associated Conditions (5)
Primary ciliary dyskinesia 30
Inborn genetic diseases
Primary ciliary dyskinesia
ODAD3-related disorder
Kartagener syndrome
Key Variants
RS143192349
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 30, Inborn genetic diseases, Primary ciliary dyskinesia 30
Health Risk
RS376087461
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 30, Inborn genetic diseases, Primary ciliary dyskinesia 30
Health Risk
RS528337895
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 30, Inborn genetic diseases, Primary ciliary dyskinesia 30
Health Risk
RS761992279
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 30, Primary ciliary dyskinesia 30, Primary ciliary dyskinesia 30
Health Risk
RS1186608353
Likely pathogenic
Primary ciliary dyskinesia 30, Primary ciliary dyskinesia 30, Primary ciliary dyskinesia 30
Health Risk
RS1480671731
Likely pathogenic
Primary ciliary dyskinesia 30, Primary ciliary dyskinesia 30
Health Risk
RS1969484928
Likely pathogenic
Primary ciliary dyskinesia 30, Primary ciliary dyskinesia 30
Health Risk
RS1969627663
Likely pathogenic
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS2144780130
Likely pathogenic
Primary ciliary dyskinesia 30, Primary ciliary dyskinesia 30
Health Risk
RS2512473911
Likely pathogenic
ODAD3-related disorder, ODAD3-related disorder
Health Risk
RS2512482311
Likely pathogenic
Primary ciliary dyskinesia 30, Primary ciliary dyskinesia 30
Health Risk
RS2512487338
Likely pathogenic
Primary ciliary dyskinesia 30, Primary ciliary dyskinesia 30
Health Risk
All Variants (32)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS143192349 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 30, Inborn genetic diseases, Primary ciliary dyskinesia 30 |
| RS376087461 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 30, Inborn genetic diseases, Primary ciliary dyskinesia 30 |
| RS528337895 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 30, Inborn genetic diseases, Primary ciliary dyskinesia 30 |
| RS761992279 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 30, Primary ciliary dyskinesia 30, Primary ciliary dyskinesia 30 |
| RS1186608353 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia 30, Primary ciliary dyskinesia 30, Primary ciliary dyskinesia 30 |
| RS1480671731 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia 30, Primary ciliary dyskinesia 30 |
| RS1969484928 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia 30, Primary ciliary dyskinesia 30 |
| RS1969627663 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2144780130 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia 30, Primary ciliary dyskinesia 30 |
| RS2512473911 | Health Risk | Likely pathogenic | ODAD3-related disorder, ODAD3-related disorder |
| RS2512482311 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia 30, Primary ciliary dyskinesia 30 |
| RS2512487338 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia 30, Primary ciliary dyskinesia 30 |
| RS2512493638 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia 30, Primary ciliary dyskinesia 30 |
| RS746849797 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia 30, Primary ciliary dyskinesia 30 |
| RS757046319 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia 30, Primary ciliary dyskinesia 30 |
| RS937290981 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia 30, Primary ciliary dyskinesia 30, Primary ciliary dyskinesia 30 |
| RS1277185772 | Health Risk | Pathogenic | Primary ciliary dyskinesia 30, Primary ciliary dyskinesia 30 |
| RS1308843878 | Health Risk | Pathogenic | Primary ciliary dyskinesia 30, Primary ciliary dyskinesia 30 |
| RS1368294758 | Health Risk | Pathogenic | Primary ciliary dyskinesia 30, Primary ciliary dyskinesia 30 |
| RS1437321108 | Health Risk | Pathogenic | Primary ciliary dyskinesia 30, Primary ciliary dyskinesia 30 |
| RS1555721837 | Health Risk | Pathogenic | Inborn genetic diseases, Primary ciliary dyskinesia 30, Inborn genetic diseases |
| RS1555723797 | Health Risk | Pathogenic | Primary ciliary dyskinesia 30, Primary ciliary dyskinesia 30 |
| RS1969172237 | Health Risk | Pathogenic | Kartagener syndrome, Kartagener syndrome |
| RS2144772827 | Health Risk | Pathogenic | Primary ciliary dyskinesia 30, Primary ciliary dyskinesia 30 |
| RS2512482280 | Health Risk | Pathogenic | Primary ciliary dyskinesia 30, Primary ciliary dyskinesia 30 |
| RS2512483025 | Health Risk | Pathogenic | Primary ciliary dyskinesia 30, Primary ciliary dyskinesia 30 |
| RS2512494505 | Health Risk | Pathogenic | Primary ciliary dyskinesia 30, Primary ciliary dyskinesia 30 |
| RS587777780 | Health Risk | Pathogenic | Primary ciliary dyskinesia 30, Kartagener syndrome, Primary ciliary dyskinesia 30 |
| RS750658321 | Health Risk | Pathogenic | Primary ciliary dyskinesia 30, Primary ciliary dyskinesia 30 |
| RS759213872 | Health Risk | Pathogenic | Primary ciliary dyskinesia 30, Primary ciliary dyskinesia 30 |
| RS761781827 | Health Risk | Pathogenic | Primary ciliary dyskinesia 30, Primary ciliary dyskinesia 30 |
| RS2512487710 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia 30, Primary ciliary dyskinesia 30 |