DNAH7 Chromosome 2
Dynein axonemal heavy chain 7
Upload your DNA to see your personal genotypes for variants in DNAH7.
What This Gene Does
DNAH7 is a component of the inner dynein arm of ciliary axonemes (Zhang et al., 2002 [PubMed 11877439]).[supplied by OMIM, Mar 2008]
Gene Info
Gene Group
"EF-hand domain containing|Dyneins, axonemal inner arm I1/f complex subunits"
Locus Type
gene with protein product
Location
2q32.3
Ensembl
ENSG00000118997
Associated Conditions (12)
Abdominal situs inversus
Primary ciliary dyskinesia
Male infertility with azoospermia or oligozoospermia due to single gene mutation
DNAH7-related disorder
Ciliary dyskinesia
primary
50
Abnormal muscle tone
Seizure
Abnormal basal ganglia morphology
Hypoplasia of the corpus callosum
Dyspnea
Key Variants
RS114621989
Conflicting classifications of pathogenicity
Abdominal situs inversus, Primary ciliary dyskinesia, Male infertility with azoospermia or oligozoospermia due to single gene mutation
Health Risk
RS115321388
Conflicting classifications of pathogenicity
Health Risk
RS181561310
Conflicting classifications of pathogenicity
Health Risk
RS189420137
Conflicting classifications of pathogenicity
DNAH7-related disorder, DNAH7-related disorder
Health Risk
RS192120666
Conflicting classifications of pathogenicity
Ciliary dyskinesia, primary, 50
Health Risk
RS199784282
Conflicting classifications of pathogenicity
Health Risk
RS200413215
Conflicting classifications of pathogenicity
Health Risk
RS202245796
Conflicting classifications of pathogenicity
Health Risk
RS371925699
Conflicting classifications of pathogenicity
Ciliary dyskinesia, primary, 50
Health Risk
RS74317435
Conflicting classifications of pathogenicity
DNAH7-related disorder, DNAH7-related disorder
Health Risk
RS75067824
Conflicting classifications of pathogenicity
DNAH7-related disorder, DNAH7-related disorder
Health Risk
RS1057519439
Pathogenic
Abnormal muscle tone, Seizure, Abnormal basal ganglia morphology
Health Risk
All Variants (13)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS114621989 | Health Risk | Conflicting classifications of pathogenicity | Abdominal situs inversus, Primary ciliary dyskinesia, Male infertility with azoospermia or oligozoospermia due to single gene mutation |
| RS115321388 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS181561310 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS189420137 | Health Risk | Conflicting classifications of pathogenicity | DNAH7-related disorder, DNAH7-related disorder |
| RS192120666 | Health Risk | Conflicting classifications of pathogenicity | Ciliary dyskinesia, primary, 50 |
| RS199784282 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200413215 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS202245796 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS371925699 | Health Risk | Conflicting classifications of pathogenicity | Ciliary dyskinesia, primary, 50 |
| RS74317435 | Health Risk | Conflicting classifications of pathogenicity | DNAH7-related disorder, DNAH7-related disorder |
| RS75067824 | Health Risk | Conflicting classifications of pathogenicity | DNAH7-related disorder, DNAH7-related disorder |
| RS1057519439 | Health Risk | Pathogenic | Abnormal muscle tone, Seizure, Abnormal basal ganglia morphology |
| RS770861172 | Health Risk | Pathogenic | Abdominal situs inversus, Primary ciliary dyskinesia, Abdominal situs inversus |