DNAH11

dynein axonemal heavy chain 11

Summary

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]

Known Variants4,777 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs7788515	7:21,580,679	G/A	upstream gene variant	—
rs11760336	7:21,582,516	T/C	—	benign
rs72655965	7:21,582,728	T/G	—	benign
rs183170050	7:21,582,745	C/T	—	likely benign
rs72655966	7:21,582,837	A/C	—	conflicting classifications of pathogenicity
rs886038455	7:21,582,850	C/T	—	likely benign
rs1162526607	7:21,582,864	A/G	—	likely pathogenic
rs1355068287	7:21,582,865	T/G	—	likely pathogenic
rs1227064699	7:21,582,871	C/A	—	conflicting classifications of pathogenicity
rs2534408640	7:21,582,872	C/G	—	likely benign
rs755966311	7:21,582,882	G/A	—	conflicting classifications of pathogenicity
rs779664174	7:21,582,884	C/T	—	benign
rs1284141098	7:21,582,886	G/T	—	benign
rs1489353643	7:21,582,887	G/C	—	likely benign
rs753645186	7:21,582,888	G/T	—	pathogenic
rs758658916	7:21,582,894	C/G	—	likely benign
rs1471867391	7:21,582,895	G/A	—	conflicting classifications of pathogenicity
rs1180027756	7:21,582,899	C/G	—	benign
rs2534408876	7:21,582,902	C/T	—	likely benign
rs1387077003	7:21,582,907	A/T	—	likely benign
rs1000525671	7:21,582,910	C/T	—	likely benign
rs1358408381	7:21,582,913	C/T	—	benign
rs1402035790	7:21,582,914	G/A	—	likely benign
rs1039233944	7:21,582,916	C/T	—	benign
rs2285942	7:21,582,917	C/T	—	likely benign
rs2534409005	7:21,582,918	C/T	—	uncertain significance
rs72655967	7:21,582,921	C/A	—	conflicting classifications of pathogenicity
rs2534409057	7:21,582,926	A/C	—	likely benign
rs1562648351	7:21,582,928	C/T	—	uncertain significance
rs745842220	7:21,582,931	C/T	—	conflicting classifications of pathogenicity
rs201804029	7:21,582,936	G/C	—	likely benign
rs746309042	7:21,582,941	C/G	—	likely benign
rs770221913	7:21,582,942	C/G	—	benign
rs1243832682	7:21,582,947	G/A	—	likely benign
rs1445106476	7:21,582,950	A/G	—	benign
rs1004777420	7:21,582,951	G/A	—	benign
rs1219460682	7:21,582,956	C/T	—	likely benign
rs1401125804	7:21,582,960	G/A	—	uncertain significance
rs2534409355	7:21,582,962	G/A	—	likely benign
rs2285943	7:21,582,963	G/T	—	benign
rs2285944	7:21,582,964	A/T	—	benign
rs1406186023	7:21,582,965	G/A	—	benign
rs1307384309	7:21,582,967	T/G	—	benign
rs1176978999	7:21,582,968	C/A	—	likely benign
rs943142146	7:21,582,969	G/C	—	benign
rs537596387	7:21,582,970	A/G	—	benign
rs748250611	7:21,582,989	G/A	—	conflicting classifications of pathogenicity
rs1583467748	7:21,582,990	G/C	—	uncertain significance
rs1457396865	7:21,582,992	G/A	—	benign
rs1203659423	7:21,582,993	G/T	—	pathogenic
rs750407994	7:21,582,994	A/C	—	benign
rs772333047	7:21,582,996	G/A	—	conflicting classifications of pathogenicity
rs918116615	7:21,582,999	G/C	—	uncertain significance
rs557408462	7:21,583,000	C/T	—	benign
rs945514775	7:21,583,001	G/A	—	benign
rs1178165787	7:21,583,011	G/A	—	benign
rs753634502	7:21,583,015	G/C	—	conflicting classifications of pathogenicity
rs978373825	7:21,583,031	C/G	—	conflicting classifications of pathogenicity
rs2534409960	7:21,583,033	C/G	—	uncertain significance
rs2534409985	7:21,583,037	G/A	—	likely benign
rs1284215510	7:21,583,038	G/A	—	conflicting classifications of pathogenicity
rs751721373	7:21,583,040	G/T	—	likely benign
rs1256071786	7:21,583,041	C/T	—	benign
rs757349371	7:21,583,042	G/C	—	conflicting classifications of pathogenicity
rs781089233	7:21,583,043	C/T	—	conflicting classifications of pathogenicity
rs571142873	7:21,583,046	C/T	—	likely benign
rs969842140	7:21,583,048	T/C	—	uncertain significance
rs1476469305	7:21,583,049	C/T	—	likely benign
rs6966525	7:21,583,051	G/C	—	benign
rs369285943	7:21,583,058	C/T	—	likely benign
rs1388988809	7:21,583,064	G/A	—	likely benign
rs771623831	7:21,583,075	G/A	—	benign
rs542513475	7:21,583,076	G/T	—	likely benign
rs2534410268	7:21,583,079	C/T	—	likely benign
rs1051931486	7:21,583,082	G/A	—	likely benign
rs753741123	7:21,583,083	G/A	—	conflicting classifications of pathogenicity
rs886309783	7:21,583,085	G/A	—	likely benign
rs2128424849	7:21,583,090	A/G	—	uncertain significance
rs759339238	7:21,583,096	G/A	—	likely benign
rs1487726993	7:21,583,097	C/G	—	uncertain significance
rs1263171996	7:21,583,100	G/A	—	likely benign
rs2128424856	7:21,583,102	A/G	—	uncertain significance
rs1782666524	7:21,583,103	T/C	—	likely benign
rs1157375192	7:21,583,112	C/T	—	likely benign
rs2534410392	7:21,583,116	G/A	—	uncertain significance
rs560422553	7:21,583,122	C/T	—	conflicting classifications of pathogenicity
rs372762132	7:21,583,126	A/G	—	likely benign
rs767753234	7:21,583,127	G/A	—	likely benign
rs750522660	7:21,583,133	T/C	—	likely benign
rs1016139987	7:21,583,136	G/T	—	likely benign
rs1311898625	7:21,583,143	C/T	—	likely benign
rs1380410361	7:21,583,146	G/C	—	uncertain significance
rs1782669287	7:21,583,148	A/G	—	likely benign
rs576486289	7:21,583,151	C/T	—	likely benign
rs992285091	7:21,583,158	C/G	—	likely benign
rs886038461	7:21,583,160	G/T	—	likely benign
rs966907044	7:21,583,165	G/C	—	likely benign
rs1206558265	7:21,583,168	T/C	—	uncertain significance
rs1253466147	7:21,583,170	G/A	—	benign
rs755427308	7:21,583,177	G/C	—	uncertain significance

Showing 100 of 4,777 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.