DNAH11 Chromosome 7
Dynein axonemal heavy chain 11
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What This Gene Does
This gene encodes a ciliary outer dynein arm protein and is a member of the dynein heavy chain family. It is a microtubule-dependent motor ATPase and has been reported to be involved in the movement of respiratory cilia. Mutations in this gene have been implicated in causing Kartagener Syndrome (a combination of situs inversus totalis and Primary Ciliary Dyskinesia (PCD), also called Immotile Cilia Syndrome 1 (ICS1)) and male sterility. [provided by RefSeq, Mar 2013]
Gene Info
Gene Group
Dyneins, axonemal outer arm complex subunits
Locus Type
gene with protein product
Location
7p15.3
Ensembl
ENSG00000105877
Associated Conditions (26)
Primary ciliary dyskinesia
Primary ciliary dyskinesia 7
DNAH11-related disorder
CILIARY DYSKINESIA
PRIMARY
7
WITH SITUS INVERSUS
Infertility disorder
Congenital portosystemic shunt
Developmental defect during embryogenesis
Lung cancer
Ciliary dyskinesia
primary
37
Male infertility
Inborn genetic diseases
Respiratory ciliopathies including non-CF bronchiectasis
Gastric cancer
See cases
Cervical cancer
+6 more conditions
Key Variants
RS1003575600
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS1016473135
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS1021905098
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS10247099
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
Health Risk
RS1026816105
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS10269832
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS1035326227
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 7, Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
Health Risk
RS112892548
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS114286628
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia 7, DNAH11-related disorder
Health Risk
RS115598432
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS1156473739
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 7, Primary ciliary dyskinesia 7
Health Risk
RS1163253626
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
All Variants (1158)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS199613080 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia 7, DNAH11-related disorder |
| RS199627577 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 7, Primary ciliary dyskinesia, Primary ciliary dyskinesia 7 |
| RS199719583 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS199770001 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS199772877 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS199789835 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia 7, DNAH11-related disorder |
| RS199864090 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia 7, Primary ciliary dyskinesia |
| RS199911435 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS200057913 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS200073714 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia 7, Primary ciliary dyskinesia |
| RS200099996 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia 7, Primary ciliary dyskinesia |
| RS200126117 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 7, Primary ciliary dyskinesia, Primary ciliary dyskinesia 7 |
| RS200166341 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS200216579 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS200216795 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS200223750 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS200256329 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 7, Primary ciliary dyskinesia, Primary ciliary dyskinesia 7 |
| RS200295318 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS200388651 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS200454446 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS200459876 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS200462132 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS200581574 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, DNAH11-related disorder, Primary ciliary dyskinesia |
| RS200628085 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS200648006 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS200664169 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS200758776 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS200824684 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS200954442 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS201120788 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS201121146 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia 7, Primary ciliary dyskinesia |
| RS201257328 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS201261243 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia 7, DNAH11-related disorder |
| RS201323940 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia 7, DNAH11-related disorder |
| RS201386161 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, DNAH11-related disorder, Primary ciliary dyskinesia |
| RS201494403 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS201501951 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS201618995 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS201671992 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, DNAH11-related disorder, Primary ciliary dyskinesia |
| RS201944089 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia 7, Primary ciliary dyskinesia |
| RS202009583 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia 7, Primary ciliary dyskinesia |
| RS202014541 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS202034810 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, DNAH11-related disorder, Primary ciliary dyskinesia |
| RS202100672 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS202139668 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS202148932 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia 7, Primary ciliary dyskinesia |
| RS202224167 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia 7, Primary ciliary dyskinesia |
| RS202236144 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia 7, Primary ciliary dyskinesia |
| RS2214326 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2534482993 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia 7, Primary ciliary dyskinesia |