DNAH8 Chromosome 6
Dynein axonemal heavy chain 8
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What This Gene Does
The protein encoded by this gene is a heavy chain of an axonemal dynein involved in sperm and respiratory cilia motility. Axonemal dyneins generate force through hydrolysis of ATP and binding to microtubules. [provided by RefSeq, Jan 2012]
Gene Info
Gene Group
Dyneins, axonemal outer arm complex subunits
Locus Type
gene with protein product
Location
6p21.2
Ensembl
ENSG00000124721
Associated Conditions (4)
Primary ciliary dyskinesia
DNAH8-related disorder
Spermatogenic failure 46
Inherited obesity
Key Variants
RS1202897114
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS1348383754
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS139533720
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, DNAH8-related disorder, Primary ciliary dyskinesia
Health Risk
RS140442435
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS140935840
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, DNAH8-related disorder, Primary ciliary dyskinesia
Health Risk
RS141012833
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS141147863
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS142438011
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Spermatogenic failure 46, Primary ciliary dyskinesia
Health Risk
RS142863013
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Spermatogenic failure 46, Primary ciliary dyskinesia
Health Risk
RS142907521
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS144505769
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, DNAH8-related disorder, Primary ciliary dyskinesia
Health Risk
RS145036630
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
All Variants (135)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS369304378 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS375764737 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS545867507 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS747123680 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS747550558 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS749731714 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS751151452 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS752692263 | Health Risk | Pathogenic | Spermatogenic failure 46, Primary ciliary dyskinesia, Spermatogenic failure 46 |
| RS752991804 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS753062783 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS753496815 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS753926744 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS754334951 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS754547680 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS756851431 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS756919169 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS765139051 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS765386646 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS766256391 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS767180208 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS769126261 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS769929539 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS770372463 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS771580014 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS776079621 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS776257226 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS777610268 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS777613343 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS777912337 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS781128315 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS781224411 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS199969537 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia, Spermatogenic failure 46, Primary ciliary dyskinesia |
| RS758035061 | Health Risk | Pathogenic/Likely pathogenic | DNAH8-related disorder, Primary ciliary dyskinesia, DNAH8-related disorder |
| RS766707325 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia, Spermatogenic failure 46, Primary ciliary dyskinesia |
| RS776176679 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia, Spermatogenic failure 46, Primary ciliary dyskinesia |