DNAH1 Chromosome 3
Dynein axonemal heavy chain 1
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What This Gene Does
This gene encodes an inner dynein arm heavy chain that provides structural support between the radial spokes and the outer doublet of the sperm tail. Naturally occurring mutations in this gene are associated with primary ciliary dyskinesia and multiple morphological anomalies of the flagella that result in asthenozoospermia and male infertility. Mice with a homozygous knockout of the orthologous gene are viable but have reduced sperm motility and are infertile. [provided by RefSeq, Feb 2017]
Gene Info
Gene Group
Dyneins, axonemal inner arm I1/f complex subunits
Locus Type
gene with protein product
Location
3p21.1
Ensembl
ENSG00000114841
Associated Conditions (11)
Spermatogenic failure 18
Ciliary dyskinesia
primary
37
Intellectual disability
Primary ciliary dyskinesia
DNAH1-related disorder
Primary ciliary dyskinesia 7
Ovarian serous cystadenocarcinoma
Kartagener syndrome
Non-syndromic male infertility due to sperm motility disorder
Key Variants
RS111568726
Conflicting classifications of pathogenicity
Spermatogenic failure 18, Ciliary dyskinesia, primary
Health Risk
RS115647631
Conflicting classifications of pathogenicity
Ciliary dyskinesia, primary, 37
Health Risk
RS1215558613
Conflicting classifications of pathogenicity
Spermatogenic failure 18, Ciliary dyskinesia, primary
Health Risk
RS138940904
Conflicting classifications of pathogenicity
Spermatogenic failure 18, Ciliary dyskinesia, primary
Health Risk
RS143443167
Conflicting classifications of pathogenicity
Spermatogenic failure 18, Ciliary dyskinesia, primary
Health Risk
RS144668102
Conflicting classifications of pathogenicity
Spermatogenic failure 18, Ciliary dyskinesia, primary
Health Risk
RS181919231
Conflicting classifications of pathogenicity
Spermatogenic failure 18, Ciliary dyskinesia, primary
Health Risk
RS185397176
Conflicting classifications of pathogenicity
Spermatogenic failure 18, Ciliary dyskinesia, primary
Health Risk
RS199602894
Conflicting classifications of pathogenicity
Spermatogenic failure 18, Ciliary dyskinesia, primary
Health Risk
RS199603472
Conflicting classifications of pathogenicity
Ciliary dyskinesia, primary, 37
Health Risk
RS199884450
Conflicting classifications of pathogenicity
Spermatogenic failure 18, Ciliary dyskinesia, primary
Health Risk
RS199910432
Conflicting classifications of pathogenicity
Spermatogenic failure 18, Ciliary dyskinesia, primary
Health Risk
All Variants (133)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2471189312 | Health Risk | Pathogenic | Spermatogenic failure 18, Ciliary dyskinesia, primary |
| RS2471193161 | Health Risk | Pathogenic | Spermatogenic failure 18, Ciliary dyskinesia, primary |
| RS2471216516 | Health Risk | Pathogenic | Spermatogenic failure 18, Ciliary dyskinesia, primary |
| RS2471253329 | Health Risk | Pathogenic | Spermatogenic failure 18, Ciliary dyskinesia, primary |
| RS2471256182 | Health Risk | Pathogenic | Spermatogenic failure 18, Ciliary dyskinesia, primary |
| RS2471269709 | Health Risk | Pathogenic | Spermatogenic failure 18, Ciliary dyskinesia, primary |
| RS2471297630 | Health Risk | Pathogenic | Spermatogenic failure 18, Ciliary dyskinesia, primary |
| RS2471302472 | Health Risk | Pathogenic | Spermatogenic failure 18, Ciliary dyskinesia, primary |
| RS371940272 | Health Risk | Pathogenic | Ciliary dyskinesia, primary, 37 |
| RS752041071 | Health Risk | Pathogenic | Spermatogenic failure 18, Ciliary dyskinesia, primary |
| RS753771532 | Health Risk | Pathogenic | Spermatogenic failure 18, Ciliary dyskinesia, primary |
| RS755572946 | Health Risk | Pathogenic | Ciliary dyskinesia, primary, 37 |
| RS757847775 | Health Risk | Pathogenic | Spermatogenic failure 18, Ciliary dyskinesia, primary |
| RS759646845 | Health Risk | Pathogenic | Spermatogenic failure 18, Ciliary dyskinesia, primary |
| RS759727960 | Health Risk | Pathogenic | Spermatogenic failure 18, Ciliary dyskinesia, primary |
| RS762545991 | Health Risk | Pathogenic | Spermatogenic failure 18, Ciliary dyskinesia, primary |
| RS766323732 | Health Risk | Pathogenic | Spermatogenic failure 18, Ciliary dyskinesia, primary |
| RS772235528 | Health Risk | Pathogenic | Spermatogenic failure 18, Ciliary dyskinesia, primary |
| RS774298278 | Health Risk | Pathogenic | Ciliary dyskinesia, primary, 37 |
| RS775289921 | Health Risk | Pathogenic | Spermatogenic failure 18, Ciliary dyskinesia, primary |
| RS777765506 | Health Risk | Pathogenic | Spermatogenic failure 18, Ciliary dyskinesia, primary |
| RS778209826 | Health Risk | Pathogenic | Spermatogenic failure 18, Ciliary dyskinesia, primary |
| RS778973398 | Health Risk | Pathogenic | Spermatogenic failure 18, Ciliary dyskinesia, primary |
| RS779490893 | Health Risk | Pathogenic | Spermatogenic failure 18, Ciliary dyskinesia, primary |
| RS780050981 | Health Risk | Pathogenic | Spermatogenic failure 18, Ciliary dyskinesia, primary |
| RS780451014 | Health Risk | Pathogenic | Spermatogenic failure 18, Ciliary dyskinesia, primary |
| RS1415820936 | Health Risk | Pathogenic/Likely pathogenic | Ciliary dyskinesia, primary, 37 |
| RS368033879 | Health Risk | Pathogenic/Likely pathogenic | Spermatogenic failure 18, Ciliary dyskinesia, primary |
| RS746049858 | Health Risk | Pathogenic/Likely pathogenic | Spermatogenic failure 18, Ciliary dyskinesia, primary |
| RS765417610 | Health Risk | Pathogenic/Likely pathogenic | Spermatogenic failure 18, Ciliary dyskinesia, primary |
| RS765688686 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia, Spermatogenic failure 18, Ciliary dyskinesia |
| RS767196276 | Health Risk | Pathogenic/Likely pathogenic | Spermatogenic failure 18, Ciliary dyskinesia, primary |
| RS768361045 | Health Risk | Pathogenic/Likely pathogenic | Spermatogenic failure 18, Ciliary dyskinesia, primary |