SGCD

sarcoglycan delta

Summary

The protein encoded by this gene is one of the four known components of the sarcoglycan complex, which is a subcomplex of the dystrophin-glycoprotein complex (DGC). DGC forms a link between the F-actin cytoskeleton and the extracellular matrix. This protein is expressed most abundantly in skeletal and cardiac muscle. Mutations in this gene have been associated with autosomal recessive limb-girdle muscular dystrophy and dilated cardiomyopathy. Alternatively spliced transcript variants encoding distinct isoforms have been observed for this gene. [provided by RefSeq, Jul 2008]

Known Variants622 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs11134474	5:155,202,528	A/G	intergenic variant	—
rs1432723	5:155,302,582	G/A	intron variant	—
rs13358188	5:155,325,029	A/G	intron variant	—
rs2163746	5:155,345,221	A/C	—	—
rs2008129	5:155,345,295	G/A	intron variant	—
rs244960	5:155,351,261	T/G	—	—
rs17053082	5:155,394,230	C/T	intron variant	—
rs190501715	5:155,407,342	T/A	intron variant	—
rs4704970	5:155,500,992	G/A	intron variant	—
rs190555844	5:155,502,389	A/G	intron variant	—
rs183172007	5:155,544,886	A/G	—	benign
rs3097862	5:155,551,741	G/A	intron variant	—
rs1835919	5:155,613,491	A/G	intron variant	—
rs249878	5:155,645,251	G/C	—	—
rs573482767	5:155,698,705	G/A	—	—
rs150161916	5:155,726,985	A/G	intron variant	—
rs114128937	5:155,753,749	A/C	—	benign
rs7724969	5:155,753,874	A/T	—	conflicting classifications of pathogenicity
rs192662989	5:155,753,882	G/A	—	likely benign
rs531296131	5:155,753,908	G/T	—	uncertain significance
rs915480419	5:155,753,911	A/G	—	benign
rs7717393	5:155,753,914	C/G	—	conflicting classifications of pathogenicity
rs727503419	5:155,753,934	T/C	—	conflicting classifications of pathogenicity
rs1471586918	5:155,753,951	T/G	—	uncertain significance
rs7725121	5:155,753,983	A/T	—	likely benign
rs1767843316	5:155,754,070	C/G	—	benign
rs77808502	5:155,754,107	A/G	—	likely benign
rs886060284	5:155,754,151	C/T	—	conflicting classifications of pathogenicity
rs13170573	5:155,754,192	C/G	—	benign
rs1057522676	5:155,754,206	G/T	—	likely benign
rs375477247	5:155,754,227	G/A	—	conflicting classifications of pathogenicity
rs727503420	5:155,754,242	G/T	—	uncertain significance
rs959438136	5:155,754,243	G/A	—	uncertain significance
rs1300537737	5:155,754,244	T/A	—	uncertain significance
rs184722381	5:155,754,253	G/A	—	conflicting classifications of pathogenicity
rs11744154	5:155,756,299	A/G	—	benign
rs11740347	5:155,756,414	G/A	—	benign
rs767016855	5:155,756,543	G/A	—	uncertain significance
rs369889635	5:155,756,546	A/T	—	not provided
rs374043017	5:155,756,557	G/A	—	conflicting classifications of pathogenicity
rs1440354794	5:155,756,574	G/T	—	likely benign
rs756367674	5:155,756,587	A/G	—	uncertain significance
rs777787493	5:155,756,590	G/A	—	uncertain significance
rs753979573	5:155,756,591	T/A	—	uncertain significance
rs573109924	5:155,756,592	G/C	—	uncertain significance
rs1000990823	5:155,756,594	G/A	—	uncertain significance
rs1561622931	5:155,756,596	A/G	—	conflicting classifications of pathogenicity
rs2481560485	5:155,756,597	A/G	—	likely benign
rs374790317	5:155,756,600	C/T	—	likely benign
rs768506031	5:155,756,602	C/T	—	likely benign
rs538229806	5:155,756,603	G/A	—	conflicting classifications of pathogenicity
rs769519400	5:155,756,604	G/A	—	likely benign
rs2481560612	5:155,756,606	A/G	—	likely benign
rs182715924	5:155,756,608	C/T	—	likely benign
rs187786098	5:155,756,609	G/T	—	likely benign
rs149323169	5:155,756,741	C/T	—	likely benign
rs10447212	5:155,756,837	T/C	—	benign
rs142576328	5:155,756,874	A/G	—	benign
rs4704792	5:155,757,946	A/C	—	—
rs4705007	5:155,762,628	G/A	intron variant	—
rs76348482	5:155,771,330	A/C	—	likely benign
rs8180473	5:155,771,356	G/A	—	benign
rs79949502	5:155,771,378	G/A	—	likely benign
rs200386436	5:155,771,458	G/T	—	likely benign
rs2481652010	5:155,771,485	C/T	—	likely benign
rs761148697	5:155,771,486	T/A	—	likely benign
rs727504580	5:155,771,487	C/T	—	conflicting classifications of pathogenicity
rs754124727	5:155,771,488	G/T	—	likely benign
rs1161530606	5:155,771,492	A/G	—	likely benign
rs1554094927	5:155,771,498	G/T	—	likely pathogenic
rs1554094928	5:155,771,503	C/T	—	uncertain significance
rs2481652139	5:155,771,504	T/C	—	likely benign
rs1768838504	5:155,771,505	C/T	—	pathogenic
rs549319429	5:155,771,510	G/C	—	likely benign
rs1561633494	5:155,771,514	T/C	—	uncertain significance
rs1554094932	5:155,771,517	A/G	—	uncertain significance
rs1320640424	5:155,771,520	C/T	—	uncertain significance
rs2127716448	5:155,771,523	C/T	—	uncertain significance
rs566181541	5:155,771,526	C/T	—	uncertain significance
rs752548592	5:155,771,527	G/A	—	uncertain significance
rs756007116	5:155,771,528	G/A	—	likely benign
rs1449665448	5:155,771,530	G/A	—	uncertain significance
rs1768840932	5:155,771,533	C/T	—	uncertain significance
rs903232864	5:155,771,535	A/G	—	uncertain significance
rs1768841493	5:155,771,536	T/C	—	uncertain significance
rs1281906026	5:155,771,537	G/T	—	uncertain significance
rs727505092	5:155,771,540	T/A	—	conflicting classifications of pathogenicity
rs2481652598	5:155,771,542	G/A	—	uncertain significance
rs2481652623	5:155,771,543	C/T	—	likely benign
rs2127716489	5:155,771,546	T/C	—	likely benign
rs756970013	5:155,771,549	G/A	—	conflicting classifications of pathogenicity
rs778664534	5:155,771,551	G/C	—	uncertain significance
rs2481652749	5:155,771,552	G/T	—	likely benign
rs900010728	5:155,771,561	A/G	—	likely benign
rs1768843843	5:155,771,562	T/C	—	uncertain significance
rs397517923	5:155,771,564	C/A	stop gained	pathogenic
rs370189224	5:155,771,572	G/A	—	uncertain significance
rs373824540	5:155,771,574	A/T	—	uncertain significance
rs1801193	5:155,771,579	C/T	—	benign
rs773399590	5:155,771,580	G/A	—	uncertain significance

Showing 100 of 622 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.