DNAH11 Chromosome 7

Dynein axonemal heavy chain 11
1158 variants 1158 Health Risk

Upload your DNA to see your personal genotypes for variants in DNAH11.

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
RS756621896 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS756850884 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS757013900 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS757784023 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS758224118 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS758391967 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS759332741 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS760516093 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS760622693 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS760757416 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS761855200 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS763657340 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS764374746 Health Risk Pathogenic Primary ciliary dyskinesia 7, Primary ciliary dyskinesia 7
RS764414399 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS765308785 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS765632800 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS765778415 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS766759197 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS767078773 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS767101212 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS767231963 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS767595964 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS769279343 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS769315133 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS769637393 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS771781357 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS773538041 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS773851007 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS774304164 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS774665658 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS774903187 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS774963422 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS775230957 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS775720394 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS776980207 Health Risk Pathogenic Primary ciliary dyskinesia 7, Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS777360011 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS779520176 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS779535145 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS780948319 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS781372148 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS797045085 Health Risk Pathogenic Primary ciliary dyskinesia 7, Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS868313799 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS878854435 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS878854441 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS878854445 Health Risk Pathogenic Primary ciliary dyskinesia, DNAH11-related disorder, Primary ciliary dyskinesia 7
RS878854446 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS886039340 Health Risk Pathogenic Primary ciliary dyskinesia, DNAH11-related disorder, Primary ciliary dyskinesia
RS949492765 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS958055112 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS980444912 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
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