MYBPC3

myosin binding protein C3

Summary

MYBPC3 encodes the cardiac isoform of myosin-binding protein C. Myosin-binding protein C is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. MYBPC3 is expressed exclusively in heart muscle and is a key regulator of cardiac contraction. Mutations in this gene are a frequent cause of familial hypertrophic cardiomyopathy. [provided by RefSeq, May 2022]

Known Variants2,620 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs3729805	11:47,352,757	C/T	—	benign
rs3729804	11:47,352,862	G/A	—	benign
rs576187732	11:47,352,882	A/T	—	benign
rs397516037	11:47,352,957	G/A	splice donor variant	pathogenic
rs886048364	11:47,352,967	G/T	—	uncertain significance
rs975731675	11:47,352,980	T/C	—	benign
rs939074534	11:47,353,000	A/T	—	benign
rs886048365	11:47,353,001	T/C	—	uncertain significance
rs916334281	11:47,353,019	C/T	—	uncertain significance
rs11570121	11:47,353,058	C/T	—	likely benign
rs2095874401	11:47,353,082	G/C	—	uncertain significance
rs886048366	11:47,353,131	G/T	—	uncertain significance
rs570058149	11:47,353,163	A/G	—	conflicting classifications of pathogenicity
rs549519453	11:47,353,167	C/T	—	uncertain significance
rs764758393	11:47,353,175	G/T	—	uncertain significance
rs886048367	11:47,353,178	A/G	—	uncertain significance
rs117960173	11:47,353,181	C/A	—	likely benign
rs886048368	11:47,353,199	C/A	—	uncertain significance
rs964280282	11:47,353,247	G/A	—	benign
rs11570119	11:47,353,311	G/T	—	benign
rs371789899	11:47,353,380	G/C	—	benign
rs375011839	11:47,353,382	C/T	—	benign
rs756818187	11:47,353,383	G/A	—	likely benign
rs886048369	11:47,353,393	T/C	—	uncertain significance
rs1416420771	11:47,353,394	A/G	—	uncertain significance
rs2495732818	11:47,353,420	G/C	—	uncertain significance
rs727504380	11:47,353,422	T/C	stop lost	uncertain significance
rs1378278382	11:47,353,423	C/T	—	likely benign
rs369184972	11:47,353,429	G/A	—	uncertain significance
rs776112819	11:47,353,431	C/T	—	likely benign
rs397516044	11:47,353,433	C/T	—	pathogenic
rs2495733080	11:47,353,434	T/C	—	likely pathogenic
rs1327835284	11:47,353,436	C/T	—	likely benign
rs397516043	11:47,353,442	A/C	—	conflicting classifications of pathogenicity
rs764320767	11:47,353,444	G/A	—	conflicting classifications of pathogenicity
rs1003286810	11:47,353,446	G/A	—	likely benign
rs2095876675	11:47,353,447	G/A	—	likely benign
rs1216064650	11:47,353,452	G/A	—	likely benign
rs2290146	11:47,353,498	G/A	—	benign
rs727504656	11:47,353,609	C/T	—	likely benign
rs764528392	11:47,353,610	G/T	—	likely benign
rs1488843018	11:47,353,615	C/T	—	likely benign
rs2495735902	11:47,353,620	C/T	—	uncertain significance
rs869025470	11:47,353,621	A/G	—	pathogenic
rs1057521823	11:47,353,622	C/T	—	pathogenic
rs730880609	11:47,353,623	C/T	missense variant	uncertain significance
rs762225417	11:47,353,625	C/G	—	uncertain significance
rs397516042	11:47,353,626	G/A	stop gained	pathogenic
rs1255638075	11:47,353,627	C/T	—	conflicting classifications of pathogenicity
rs1064793310	11:47,353,628	A/C	—	uncertain significance
rs1064796634	11:47,353,629	C/A	—	uncertain significance
rs2495735937	11:47,353,632	C/A	—	pathogenic
rs786204363	11:47,353,634	A/G	—	uncertain significance
rs2095877612	11:47,353,635	G/C	—	uncertain significance
rs541377415	11:47,353,636	G/A	—	likely benign
rs730880142	11:47,353,637	C/T	missense variant	uncertain significance
rs765825263	11:47,353,638	G/A	—	uncertain significance
rs1312046345	11:47,353,639	G/C	—	uncertain significance
rs397516041	11:47,353,640	C/T	missense variant	uncertain significance
rs730880608	11:47,353,641	A/G	missense variant	uncertain significance
rs730880607	11:47,353,643	T/A	missense variant	uncertain significance
rs751527360	11:47,353,644	C/T	—	uncertain significance
rs397514751	11:47,353,646	C/T	missense variant	uncertain significance
rs2142849221	11:47,353,647	A/G	—	uncertain significance
rs2495735988	11:47,353,648	C/T	—	uncertain significance
rs781180230	11:47,353,649	C/G	—	uncertain significance
rs370338674	11:47,353,650	G/A	missense variant	uncertain significance
rs2095877651	11:47,353,652	G/A	—	uncertain significance
rs2495736049	11:47,353,653	C/T	—	uncertain significance
rs1036127423	11:47,353,654	C/T	—	likely benign
rs730880141	11:47,353,656	C/A	stop gained	pathogenic
rs779312310	11:47,353,657	G/A	—	conflicting classifications of pathogenicity
rs730880606	11:47,353,658	C/T	—	uncertain significance
rs1555120117	11:47,353,659	C/G	—	uncertain significance
rs746042492	11:47,353,660	C/T	—	likely benign
rs727503166	11:47,353,661	—	—	pathogenic
rs730880605	11:47,353,662	G/A	stop gained	pathogenic
rs730880604	11:47,353,664	A/G	missense variant	uncertain significance
rs730880603	11:47,353,666	G/T	missense variant	pathogenic
rs2142849248	11:47,353,667	T/C	—	uncertain significance
rs1394764478	11:47,353,669	G/C	—	uncertain significance
rs775370325	11:47,353,670	G/A	—	uncertain significance
rs1354801986	11:47,353,672	G/C	—	likely benign
rs727504722	11:47,353,673	G/C	missense variant	uncertain significance
rs727503167	11:47,353,674	C/T	missense variant	uncertain significance
rs769101292	11:47,353,675	C/T	—	likely benign
rs2495736165	11:47,353,677	T/C	—	uncertain significance
rs2495736176	11:47,353,679	C/T	—	uncertain significance
rs2495736181	11:47,353,680	A/T	—	uncertain significance
rs374760003	11:47,353,681	G/C	—	likely benign
rs2094620865	11:47,353,683	C/T	—	conflicting classifications of pathogenicity
rs397516039	11:47,353,684	A/G	synonymous variant	uncertain significance
rs730880602	11:47,353,685	T/C	missense variant	pathogenic
rs730880601	11:47,353,686	A/C	missense variant	uncertain significance
rs770102135	11:47,353,687	G/C	—	conflicting classifications of pathogenicity
rs772872595	11:47,353,690	G/C	—	likely benign
rs727504259	11:47,353,691	C/A	—	conflicting classifications of pathogenicity
rs202147520	11:47,353,695	C/T	missense variant	uncertain significance
rs543376073	11:47,353,696	G/A	—	conflicting classifications of pathogenicity
rs1085307978	11:47,353,697	T/C	missense variant	pathogenic

Showing 100 of 2,620 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.