MYOCD

myocardin

Summary

This gene encodes a nuclear protein, which is expressed in heart, aorta, and in smooth muscle cell-containing tissues. It functions as a transcriptional co-activator of serum response factor (SRF) and modulates expression of cardiac and smooth muscle-specific SRF-target genes, and thus may play a crucial role in cardiogenesis and differentiation of the smooth muscle cell lineage. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]

Known Variants96 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs8071072	17:12,568,877	A/T	—	benign
rs758187	17:12,569,071	T/C	regulatory region variant	benign
rs76148496	17:12,569,442	G/A	—	benign
rs115950603	17:12,580,733	A/T	intron variant	—
rs8073609	17:12,608,271	T/C	—	benign
rs770602844	17:12,608,471	A/G	—	uncertain significance
rs2508515033	17:12,608,498	G/C	—	uncertain significance
rs55941572	17:12,612,931	T/C	upstream gene variant	—
rs1714984	17:12,617,701	A/G	intron variant	—
rs72811294	17:12,618,680	G/C	—	benign
rs114839607	17:12,620,711	G/A	—	benign
rs12944823	17:12,620,761	A/G	—	benign
rs12602716	17:12,620,897	G/A	—	benign
rs10521200	17:12,625,926	A/G	—	benign
rs1597782599	17:12,626,253	C/T	—	pathogenic
rs2508574547	17:12,626,268	G/A	—	uncertain significance
rs1310611210	17:12,626,269	A/G	—	uncertain significance
rs9905820	17:12,637,371	T/G	intron variant	—
rs16946539	17:12,638,478	C/T	intron variant	—
rs1465249	17:12,639,294	T/C	—	benign
rs1468492	17:12,639,485	G/A	—	benign
rs148826320	17:12,639,568	G/A	—	conflicting classifications of pathogenicity
rs368720240	17:12,639,605	C/T	—	uncertain significance
rs139284512	17:12,642,587	C/T	—	uncertain significance
rs11657113	17:12,642,890	C/T	—	benign
rs8073291	17:12,647,408	G/A	—	benign
rs12709295	17:12,647,490	T/C	—	benign
rs1173196015	17:12,647,507	C/A	—	uncertain significance
rs759803499	17:12,647,543	A/G	—	uncertain significance
rs2508636024	17:12,647,650	C/G	—	uncertain significance
rs374008798	17:12,647,717	G/A	—	uncertain significance
rs73286379	17:12,647,988	T/C	—	benign
rs376772447	17:12,649,255	G/C	—	uncertain significance
rs12451534	17:12,649,660	G/A	—	benign
rs1371459311	17:12,655,813	C/T	—	uncertain significance
rs140165038	17:12,655,831	G/T	—	uncertain significance
rs137939966	17:12,655,857	A/G	missense variant	pathogenic
rs28730822	17:12,655,861	C/T	—	uncertain significance
rs149968263	17:12,656,020	C/G	—	uncertain significance
rs376323244	17:12,656,044	C/A	—	uncertain significance
rs28730823	17:12,656,052	G/A	—	benign
rs367926651	17:12,656,070	G/T	—	uncertain significance
rs149104165	17:12,656,076	G/A	—	uncertain significance
rs2032892494	17:12,656,098	T/C	—	uncertain significance
rs12453883	17:12,656,111	T/C	—	benign
rs548285922	17:12,656,124	C/T	—	uncertain significance
rs146033223	17:12,656,151	G/A	—	uncertain significance
rs2508663363	17:12,656,158	A/G	—	uncertain significance
rs2508663453	17:12,656,169	G/A	—	uncertain significance
rs1597809206	17:12,656,194	A/G	—	no classification for the single variant
rs772254215	17:12,656,233	A/G	—	uncertain significance
rs553893165	17:12,656,290	C/T	—	uncertain significance
rs750466262	17:12,656,339	C/A	—	uncertain significance
rs758560421	17:12,656,340	T/G	—	uncertain significance
rs747188885	17:12,656,353	C/T	—	uncertain significance
rs148450760	17:12,656,406	T/C	—	uncertain significance
rs28730824	17:12,656,417	C/T	—	benign
rs577072079	17:12,656,448	G/A	—	uncertain significance
rs141965445	17:12,656,490	C/A	—	likely benign
rs369146035	17:12,656,521	C/T	—	uncertain significance
rs563372096	17:12,656,522	G/A	—	likely benign
rs28730825	17:12,656,546	G/C	—	benign
rs2508665876	17:12,656,557	T/G	—	uncertain significance
rs201621132	17:12,656,571	A/C	—	conflicting classifications of pathogenicity
rs2032915495	17:12,656,605	C/T	—	uncertain significance
rs4792277	17:12,656,711	A/G	—	benign
rs140624421	17:12,656,742	A/G	intron variant	—
rs2108658	17:12,656,814	C/A	—	benign
rs4792278	17:12,656,815	T/C	—	benign
rs16946568	17:12,659,499	C/T	—	benign
rs772669127	17:12,659,745	C/A	—	uncertain significance
rs369225309	17:12,659,746	G/A	—	benign
rs1247402557	17:12,659,750	G/C	—	uncertain significance
rs768931054	17:12,659,774	A/G	—	likely benign
rs111358990	17:12,659,790	C/T	—	likely benign
rs113595869	17:12,659,857	C/G	—	uncertain significance
rs7219813	17:12,660,106	G/A	—	benign
rs374404083	17:12,661,424	A/G	—	benign
rs56138813	17:12,663,696	A/G	—	benign
rs28730827	17:12,663,721	G/T	—	benign
rs28730828	17:12,663,841	C/T	—	benign
rs753297107	17:12,663,977	G/A	—	uncertain significance
rs16946572	17:12,664,177	T/C	—	benign
rs764441484	17:12,666,404	G/A	—	uncertain significance
rs138291293	17:12,666,408	G/A	—	uncertain significance
rs765402581	17:12,666,416	C/G	—	uncertain significance
rs193131989	17:12,666,520	C/A	—	benign
rs2033235479	17:12,666,536	C/T	—	uncertain significance
rs28730829	17:12,666,634	C/A	—	uncertain significance
rs772264210	17:12,666,689	G/C	—	uncertain significance
rs9913758	17:12,666,721	C/G	—	benign
rs2507881634	17:12,666,737	C/A	—	uncertain significance
rs28730830	17:12,666,739	G/A	—	benign
rs150794965	17:12,666,792	C/G	—	uncertain significance
rs139170912	17:12,666,834	C/T	—	uncertain significance
rs374731521	17:12,666,893	A/G	—	uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.