DNAH11 Chromosome 7

Dynein axonemal heavy chain 11
1158 variants 1158 Health Risk

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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
RS562163349 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS563280837 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, DNAH11-related disorder, Primary ciliary dyskinesia
RS56333627 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS564202359 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS564401238 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7, DNAH11-related disorder
RS564514095 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS565283604 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS566490774 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS566705895 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS571709285 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, DNAH11-related disorder, Primary ciliary dyskinesia
RS572118148 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS573384750 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS573509767 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS573727689 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 7, Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS574585676 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 7, Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS574898096 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS575221219 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS575246582 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS575775297 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS578086869 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS578153138 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS5882827 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 7, DNAH11-related disorder, Primary ciliary dyskinesia 7
RS72655967 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS72655978 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS72657304 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS72657309 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 7, Primary ciliary dyskinesia, DNAH11-related disorder
RS72657334 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS72657342 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS72657364 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS72657366 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS72657389 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS72658810 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS72658814 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Male infertility, Primary ciliary dyskinesia 7
RS72658839 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS727502966 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS727502967 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS727502969 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS727503901 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, DNAH11-related disorder, Primary ciliary dyskinesia
RS727505321 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS745305844 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS745519889 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS745645801 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS745741888 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS745842220 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS746194866 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS746315507 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS746506506 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS746587907 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, DNAH11-related disorder, Primary ciliary dyskinesia
RS746738432 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS746934962 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
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