DNAH6

dynein axonemal heavy chain 6

Summary

This gene belongs to the dynein family, whose members encode large proteins that are constituents of the microtubule-associated motor protein complex. This complex is composed of dynein heavy, intermediate and light chains, which can be axonemal or cytoplasmic. This protein is an axonemal dynein heavy chain. It is involved in producing force for ciliary beating by using energy from ATP hydrolysis. Mutations in this gene may cause primary ciliary dyskinesia (PCD) as well as heterotaxy. [provided by RefSeq, Jun 2016]

Known Variants408 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs786205871	2:84,686,294	C/G	—	pathogenic
rs796052053	2:84,686,354	T/C	missense variant	pathogenic
rs7581224	2:84,709,215	G/T	regulatory region variant	—
rs773282169	2:84,744,975	G/A	—	uncertain significance
rs756089376	2:84,745,032	A/C	—	uncertain significance
rs1374986115	2:84,745,055	A/T	—	uncertain significance
rs1454931679	2:84,745,069	C/T	—	uncertain significance
rs1279215438	2:84,745,111	G/C	—	uncertain significance
rs112166113	2:84,745,113	T/C	—	uncertain significance
rs756003894	2:84,745,141	G/C	—	uncertain significance
rs9784108	2:84,752,630	A/C	—	benign
rs1676535494	2:84,752,702	T/C	—	uncertain significance
rs1676536570	2:84,752,714	A/T	—	uncertain significance
rs533477003	2:84,752,747	G/A	—	uncertain significance
rs73945104	2:84,752,784	A/C	—	benign
rs1386489270	2:84,752,821	A/C	—	uncertain significance
rs4832089	2:84,756,049	G/A	—	benign
rs554759139	2:84,756,089	T/C	—	likely benign
rs889547134	2:84,756,146	A/G	—	uncertain significance
rs376060265	2:84,756,147	C/T	—	likely benign
rs374433871	2:84,756,179	G/C	—	uncertain significance
rs1301428891	2:84,756,199	A/G	—	uncertain significance
rs756268182	2:84,756,208	C/T	—	uncertain significance
rs371090965	2:84,756,209	G/T	—	uncertain significance
rs1012671740	2:84,756,253	C/T	—	uncertain significance
rs774899113	2:84,756,265	A/G	—	uncertain significance
rs4832090	2:84,756,341	T/G	—	benign
rs4832091	2:84,756,450	C/A	—	benign
rs79093163	2:84,771,137	T/C	—	benign
rs770893497	2:84,771,440	T/C	—	uncertain significance
rs891673034	2:84,771,446	T/G	—	uncertain significance
rs758329151	2:84,771,451	G/A	—	uncertain significance
rs1259819662	2:84,771,461	G/A	—	uncertain significance
rs1037863	2:84,771,480	G/A	—	benign
rs984910954	2:84,771,556	A/G	—	uncertain significance
rs552271150	2:84,771,562	C/T	—	uncertain significance
rs764375435	2:84,771,563	G/A	—	uncertain significance
rs1542477	2:84,771,567	C/T	—	benign
rs1678582485	2:84,771,607	T/G	—	uncertain significance
rs373968372	2:84,774,399	G/A	—	uncertain significance
rs942414865	2:84,774,404	G/A	—	uncertain significance
rs141384152	2:84,774,688	C/T	—	uncertain significance
rs200299504	2:84,774,689	G/A	—	uncertain significance
rs10171852	2:84,774,835	A/G	—	benign
rs12474026	2:84,774,893	G/A	—	benign
rs902169852	2:84,775,473	T/C	—	likely benign
rs60315854	2:84,775,673	A/T	—	benign
rs750887592	2:84,777,020	C/T	—	uncertain significance
rs145235960	2:84,777,021	G/A	—	uncertain significance
rs554967894	2:84,777,074	G/A	—	uncertain significance
rs143013494	2:84,777,113	C/G	—	uncertain significance
rs148362906	2:84,777,114	G/A	—	uncertain significance
rs112814535	2:84,777,347	T/C	—	benign
rs2469039658	2:84,780,091	T/G	—	uncertain significance
rs746232992	2:84,780,141	T/C	—	uncertain significance
rs6729657	2:84,784,716	G/A	—	benign
rs1219395280	2:84,784,874	G/T	—	uncertain significance
rs139773637	2:84,784,919	G/A	—	uncertain significance
rs1373965792	2:84,784,929	C/A	—	uncertain significance
rs756237010	2:84,784,989	G/C	—	uncertain significance
rs1680224007	2:84,785,001	G/A	—	uncertain significance
rs142159263	2:84,785,029	G/A	—	likely benign
rs1682098699	2:84,800,592	A/G	—	likely benign
rs11891970	2:84,800,605	C/A	—	benign
rs200763341	2:84,800,606	G/A	—	uncertain significance
rs138935163	2:84,800,621	C/T	—	uncertain significance
rs577793487	2:84,800,622	G/A	—	uncertain significance
rs143890721	2:84,800,673	A/G	—	uncertain significance
rs200771885	2:84,800,720	T/G	—	benign
rs13002679	2:84,800,898	T/C	—	benign
rs368818978	2:84,804,426	A/T	—	uncertain significance
rs199597073	2:84,804,486	G/A	—	likely benign
rs115582360	2:84,804,548	A/G	—	benign
rs6547569	2:84,806,553	G/A	—	benign
rs895918865	2:84,806,673	G/A	—	uncertain significance
rs116398232	2:84,806,724	A/G	—	uncertain significance
rs142042706	2:84,806,744	C/T	—	uncertain significance
rs140577999	2:84,806,753	A/G	—	benign
rs6547570	2:84,806,942	G/C	—	benign
rs748728886	2:84,811,163	T/C	—	uncertain significance
rs200199170	2:84,811,183	T/C	—	benign
rs757399618	2:84,811,253	G/A	—	uncertain significance
rs1453863240	2:84,811,351	A/G	—	uncertain significance
rs56329533	2:84,811,403	A/C	—	benign
rs1460703	2:84,815,748	G/A	—	benign
rs769667372	2:84,815,958	G/T	—	uncertain significance
rs1021286426	2:84,815,959	A/G	—	uncertain significance
rs1048725588	2:84,815,998	A/G	—	uncertain significance
rs1006244	2:84,816,015	A/G	—	benign
rs1683830059	2:84,816,074	T/G	—	uncertain significance
rs7423276	2:84,816,130	G/A	—	benign
rs80077123	2:84,816,178	G/A	—	benign
rs1006245	2:84,816,188	G/A	—	benign
rs72941028	2:84,820,989	A/G	—	benign
rs12466574	2:84,822,549	G/A	—	benign
rs76070437	2:84,822,626	T/C	—	benign
rs6761632	2:84,822,715	C/T	—	benign
rs760701007	2:84,822,806	G/A	—	likely benign
rs2469390553	2:84,822,896	G/A	—	uncertain significance
rs199657504	2:84,822,920	T/G	—	likely benign

Showing 100 of 408 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.