MYH6

myosin heavy chain 6

Summary

Cardiac muscle myosin is a hexamer consisting of two heavy chain subunits, two light chain subunits, and two regulatory subunits. This gene encodes the alpha heavy chain subunit of cardiac myosin. The gene is located approximately 4kb downstream of the gene encoding the beta heavy chain subunit of cardiac myosin. Mutations in this gene cause familial hypertrophic cardiomyopathy and atrial septal defect 3. [provided by RefSeq, Feb 2017]

Known Variants1,914 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs201560522	14:23,851,241	A/G	—	likely benign
rs1595045701	14:23,851,258	A/T	—	uncertain significance
rs878854503	14:23,851,260	C/T	—	conflicting classifications of pathogenicity
rs372265811	14:23,851,264	C/A	—	uncertain significance
rs377133201	14:23,851,265	A/G	—	uncertain significance
rs1484679078	14:23,851,273	C/T	—	conflicting classifications of pathogenicity
rs751748384	14:23,851,274	T/C	—	uncertain significance
rs1890877939	14:23,851,276	C/T	—	likely benign
rs1890878061	14:23,851,278	A/G	—	likely benign
rs142808595	14:23,851,290	G/A	—	likely benign
rs774470143	14:23,851,633	C/T	—	uncertain significance
rs730880153	14:23,851,637	C/T	—	uncertain significance
rs763914096	14:23,851,639	T/A	—	uncertain significance
rs1233371859	14:23,851,641	G/A	—	conflicting classifications of pathogenicity
rs563924147	14:23,851,642	C/T	—	uncertain significance
rs761796189	14:23,851,645	C/G	—	uncertain significance
rs1890889294	14:23,851,648	T/C	—	uncertain significance
rs2502129626	14:23,851,651	C/T	—	uncertain significance
rs730880152	14:23,851,653	C/A	—	uncertain significance
rs1424944982	14:23,851,654	G/A	—	uncertain significance
rs765861895	14:23,851,666	G/A	—	uncertain significance
rs539827027	14:23,851,674	T/C	—	uncertain significance
rs1566503504	14:23,851,685	C/G	—	uncertain significance
rs754649208	14:23,851,690	C/T	—	uncertain significance
rs781733700	14:23,851,691	G/A	—	likely benign
rs1555332882	14:23,851,696	C/T	—	uncertain significance
rs150277296	14:23,851,697	C/T	—	likely benign
rs373076710	14:23,851,698	G/A	—	uncertain significance
rs1463159568	14:23,851,701	C/T	—	uncertain significance
rs746557077	14:23,851,702	G/A	—	uncertain significance
rs749763001	14:23,851,703	C/T	—	likely benign
rs2502129833	14:23,851,715	A/G	—	likely benign
rs2138578297	14:23,851,719	A/G	—	uncertain significance
rs1057518591	14:23,851,723	C/T	—	uncertain significance
rs746154984	14:23,851,727	C/A	—	uncertain significance
rs397516778	14:23,851,733	C/G	—	uncertain significance
rs61731171	14:23,851,737	C/T	—	uncertain significance
rs371607892	14:23,851,738	G/A	—	uncertain significance
rs201199853	14:23,851,739	G/C	—	uncertain significance
rs762923098	14:23,851,741	A/C	—	uncertain significance
rs765849175	14:23,851,743	T/C	—	uncertain significance
rs1209697861	14:23,851,746	G/A	—	uncertain significance
rs1474675483	14:23,851,751	G/A	—	likely benign
rs1186462290	14:23,851,756	T/C	—	uncertain significance
rs1258355019	14:23,851,759	T/A	—	uncertain significance
rs1415232837	14:23,851,766	C/G	—	uncertain significance
rs947393801	14:23,851,771	C/T	—	uncertain significance
rs2138578417	14:23,851,773	T/C	—	uncertain significance
rs2502130051	14:23,851,776	G/A	—	uncertain significance
rs183733802	14:23,851,777	G/A	—	conflicting classifications of pathogenicity
rs2502130074	14:23,851,780	G/A	—	likely benign
rs2502130109	14:23,851,786	T/C	—	likely benign
rs373908250	14:23,852,425	T/C	—	likely benign
rs759126258	14:23,852,434	C/T	—	conflicting classifications of pathogenicity
rs767096302	14:23,852,435	G/A	—	uncertain significance
rs138864419	14:23,852,439	C/T	—	uncertain significance
rs1442362401	14:23,852,441	T/C	—	uncertain significance
rs760353963	14:23,852,442	C/T	—	uncertain significance
rs200662317	14:23,852,443	G/A	—	conflicting classifications of pathogenicity
rs2502132216	14:23,852,447	T/A	—	uncertain significance
rs199755234	14:23,852,450	C/T	—	uncertain significance
rs779397173	14:23,852,451	G/A	—	uncertain significance
rs1890912044	14:23,852,452	C/T	—	likely benign
rs750886219	14:23,852,453	T/C	—	conflicting classifications of pathogenicity
rs1457647629	14:23,852,460	C/T	—	uncertain significance
rs2502132277	14:23,852,466	C/T	—	uncertain significance
rs1390751455	14:23,852,467	C/A	—	uncertain significance
rs201919534	14:23,852,468	T/C	—	uncertain significance
rs368604132	14:23,852,472	G/A	—	likely benign
rs747232886	14:23,852,473	T/C	—	likely benign
rs148984154	14:23,852,494	C/T	—	likely benign
rs17091278	14:23,852,497	T/C	—	benign
rs138720701	14:23,852,501	C/T	—	uncertain significance
rs759499155	14:23,852,502	G/A	—	uncertain significance
rs2138579438	14:23,852,506	C/T	—	likely benign
rs142767538	14:23,852,508	G/A	—	likely benign
rs544009955	14:23,852,509	G/C	—	uncertain significance
rs1890914926	14:23,852,514	T/C	—	uncertain significance
rs1441072867	14:23,852,520	C/T	—	uncertain significance
rs763818508	14:23,852,531	T/G	—	benign
rs753364388	14:23,852,534	G/A	—	likely benign
rs762268691	14:23,852,535	G/A	—	likely benign
rs200509899	14:23,852,536	G/A	—	likely benign
rs529785746	14:23,852,537	T/G	—	benign
rs758869144	14:23,852,538	G/A	—	uncertain significance
rs546563498	14:23,852,541	A/G	—	benign
rs8006357	14:23,853,629	T/C	—	benign
rs778921765	14:23,853,640	G/A	—	likely benign
rs751363583	14:23,853,643	C/T	—	likely benign
rs780068582	14:23,853,644	G/A	—	likely benign
rs527840758	14:23,853,646	C/T	—	uncertain significance
rs1325601781	14:23,853,648	C/A	—	uncertain significance
rs113775009	14:23,853,649	A/T	—	uncertain significance
rs769420961	14:23,853,653	G/A	—	uncertain significance
rs2138581208	14:23,853,661	A/G	—	uncertain significance
rs763313787	14:23,853,663	C/T	—	likely benign
rs1233959906	14:23,853,665	C/T	—	uncertain significance
rs887453569	14:23,853,667	T/C	—	uncertain significance
rs370868497	14:23,853,669	G/A	—	likely benign
rs147348589	14:23,853,672	G/A	—	likely benign

Showing 100 of 1,914 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.