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
RS774648747 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS774855826 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS774996068 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS775354685 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS775598568 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Cervical cancer, Primary ciliary dyskinesia
RS775730577 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS776228270 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS776262883 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS776368544 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS776376992 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS776464348 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS776549742 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 7, Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS776666835 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS776830736 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS776959465 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS777011433 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS777290108 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS777319170 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS777405662 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS777435555 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS777454538 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS777735154 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS777887934 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS778000913 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS778096489 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS778125255 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS778255538 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS778362196 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS778649796 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 7, Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS778698443 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 7, Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS778901546 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS778936667 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS779250701 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS779303486 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Congenital portosystemic shunt, Primary ciliary dyskinesia
RS779389497 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS779537030 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS779573927 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS780042783 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS780492669 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS780660397 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS780931328 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS781089233 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS781116833 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS781151745 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS781520837 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS781560218 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS781652233 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS80267624 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS878854450 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS886038468 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
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