DNAH1

dynein axonemal heavy chain 1

Summary

This gene encodes an inner dynein arm heavy chain that provides structural support between the radial spokes and the outer doublet of the sperm tail. Naturally occurring mutations in this gene are associated with primary ciliary dyskinesia and multiple morphological anomalies of the flagella that result in asthenozoospermia and male infertility. Mice with a homozygous knockout of the orthologous gene are viable but have reduced sperm motility and are infertile. [provided by RefSeq, Feb 2017]

Known Variants2,026 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs74762885	3:52,356,126	G/A	—	likely benign
rs747132091	3:52,356,464	G/A	—	likely benign
rs771252539	3:52,356,471	A/C	—	uncertain significance
rs2153222741	3:52,356,475	G/A	—	uncertain significance
rs775936085	3:52,356,500	C/T	—	likely benign
rs199910432	3:52,356,504	C/T	—	conflicting classifications of pathogenicity
rs2471123411	3:52,356,509	C/T	—	likely benign
rs2471123420	3:52,356,512	A/G	—	likely benign
rs1214676887	3:52,356,525	G/T	—	uncertain significance
rs1245503993	3:52,356,526	C/T	—	uncertain significance
rs772550201	3:52,356,535	T/C	—	uncertain significance
rs759317020	3:52,356,570	C/A	—	uncertain significance
rs752563791	3:52,356,571	C/T	—	uncertain significance
rs758216516	3:52,356,572	G/A	—	likely benign
rs559216813	3:52,356,575	G/C	—	likely benign
rs1701186408	3:52,356,582	C/A	—	uncertain significance
rs373701749	3:52,356,587	A/G	—	likely benign
rs2471123641	3:52,356,601	G/A	—	uncertain significance
rs2153222765	3:52,356,608	A/G	—	likely benign
rs867666470	3:52,356,609	A/G	—	uncertain significance
rs1559485379	3:52,356,628	C/T	—	uncertain significance
rs182751106	3:52,356,655	C/T	—	likely benign
rs1701190185	3:52,356,659	C/T	—	likely benign
rs2471123836	3:52,356,668	A/G	—	likely benign
rs750191626	3:52,356,691	G/A	—	uncertain significance
rs770488524	3:52,356,699	C/T	—	uncertain significance
rs377237246	3:52,356,703	T/A	—	uncertain significance
rs202174386	3:52,356,727	C/T	—	conflicting classifications of pathogenicity
rs187716200	3:52,356,741	C/T	—	uncertain significance
rs779382795	3:52,356,762	C/T	—	uncertain significance
rs748599858	3:52,356,767	C/T	—	likely benign
rs745428356	3:52,356,791	G/A	—	uncertain significance
rs775277811	3:52,356,801	G/A	—	likely benign
rs1447957262	3:52,356,806	C/T	—	likely benign
rs144102868	3:52,357,812	G/A	—	benign
rs755171391	3:52,357,834	G/A	—	uncertain significance
rs779186461	3:52,357,838	C/A	—	likely benign
rs201474620	3:52,357,842	C/T	—	pathogenic
rs370930322	3:52,357,843	G/A	—	uncertain significance
rs745363325	3:52,357,863	C/T	—	uncertain significance
rs373203216	3:52,357,864	G/A	—	uncertain significance
rs1016034342	3:52,357,867	A/G	—	uncertain significance
rs961986537	3:52,357,879	A/G	—	uncertain significance
rs1701241345	3:52,357,881	A/T	—	pathogenic
rs2471126720	3:52,357,887	A/G	—	uncertain significance
rs1701242021	3:52,357,902	T/A	—	uncertain significance
rs1279150351	3:52,357,905	T/C	—	likely benign
rs540839638	3:52,357,912	G/A	—	likely benign
rs561152104	3:52,357,914	C/G	—	benign
rs11711934	3:52,358,117	T/C	—	benign
rs35133416	3:52,359,040	C/T	intron variant	—
rs11710014	3:52,359,972	C/T	—	benign
rs1248894429	3:52,360,137	C/T	—	likely benign
rs199779498	3:52,360,143	C/A	—	likely benign
rs1701329208	3:52,360,148	A/G	—	likely benign
rs368577542	3:52,360,157	C/A	—	uncertain significance
rs770952001	3:52,360,158	G/A	—	uncertain significance
rs1382163756	3:52,360,167	G/C	—	uncertain significance
rs1438410477	3:52,360,191	C/T	—	uncertain significance
rs768707082	3:52,360,192	G/A	—	uncertain significance
rs770809590	3:52,360,193	C/T	—	likely benign
rs2471130799	3:52,360,196	G/A	—	uncertain significance
rs776727806	3:52,360,209	A/C	—	uncertain significance
rs759571672	3:52,360,211	C/T	—	likely benign
rs2471130894	3:52,360,218	A/G	—	uncertain significance
rs561508479	3:52,360,224	C/T	—	uncertain significance
rs530570673	3:52,360,225	G/A	—	conflicting classifications of pathogenicity
rs1018979330	3:52,360,228	T/C	—	uncertain significance
rs1440005574	3:52,360,230	C/T	—	uncertain significance
rs372647456	3:52,360,232	C/T	—	likely benign
rs993782683	3:52,360,234	C/T	—	uncertain significance
rs753358571	3:52,360,238	G/A	—	likely benign
rs754602688	3:52,360,239	A/G	—	uncertain significance
rs374290346	3:52,360,252	T/C	—	uncertain significance
rs746807405	3:52,360,262	C/T	—	likely benign
rs1233684785	3:52,360,268	C/T	—	likely benign
rs2471131093	3:52,360,275	C/T	—	pathogenic
rs774452903	3:52,360,278	G/A	—	uncertain significance
rs769805453	3:52,360,280	G/C	—	likely benign
rs775549481	3:52,360,282	C/T	—	uncertain significance
rs181177631	3:52,360,297	C/T	—	uncertain significance
rs1578073213	3:52,360,299	G/T	—	not provided
rs201444060	3:52,360,300	G/A	—	uncertain significance
rs368210345	3:52,360,311	C/G	—	uncertain significance
rs200051758	3:52,360,312	G/A	—	uncertain significance
rs61729450	3:52,360,318	T/C	—	likely benign
rs555661049	3:52,360,325	C/T	—	likely benign
rs757070489	3:52,360,326	G/A	—	uncertain significance
rs376123460	3:52,360,334	C/T	—	uncertain significance
rs369026320	3:52,360,344	G/T	—	likely benign
rs1336650377	3:52,360,345	G/T	—	likely benign
rs34181173	3:52,360,647	G/A	—	likely benign
rs1188626824	3:52,360,732	C/T	—	likely benign
rs779054079	3:52,360,742	C/T	—	likely benign
rs1453796788	3:52,360,745	G/T	—	likely benign
rs1395611267	3:52,360,774	T/C	—	uncertain significance
rs2471132400	3:52,360,781	T/G	—	uncertain significance
rs2471132423	3:52,360,787	G/C	—	uncertain significance
rs548996613	3:52,360,808	C/T	—	likely benign
rs373792628	3:52,360,809	G/A	—	uncertain significance

Showing 100 of 2,026 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.