SGCB

sarcoglycan beta

Summary

This gene encodes a member of the sarcoglycan family. Sarcoglycans are transmembrane components in the dystrophin-glycoprotein complex which help stabilize the muscle fiber membranes and link the muscle cytoskeleton to the extracellular matrix. Mutations in this gene have been associated with limb-girdle muscular dystrophy.[provided by RefSeq, Oct 2008]

Known Variants438 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs182133472	4:52,886,865	C/G	—	uncertain significance
rs774980532	4:52,886,907	T/C	—	uncertain significance
rs1157646116	4:52,886,910	C/A	—	uncertain significance
rs937533250	4:52,886,987	A/G	—	uncertain significance
rs1578121631	4:52,887,067	A/C	—	uncertain significance
rs73246100	4:52,887,080	T/C	—	benign
rs574951031	4:52,887,139	C/T	—	uncertain significance
rs777090102	4:52,887,153	T/C	—	uncertain significance
rs138349341	4:52,887,216	A/G	—	conflicting classifications of pathogenicity
rs1046127430	4:52,887,309	T/C	—	uncertain significance
rs561817001	4:52,887,312	C/T	—	uncertain significance
rs886059426	4:52,887,359	C/T	—	uncertain significance
rs574973588	4:52,887,416	A/G	—	uncertain significance
rs886059427	4:52,887,543	G/A	—	uncertain significance
rs1423436549	4:52,887,629	C/A	—	uncertain significance
rs753761435	4:52,887,679	C/T	—	uncertain significance
rs1384400878	4:52,887,700	G/C	—	uncertain significance
rs1276424882	4:52,887,736	T/A	—	uncertain significance
rs886059428	4:52,887,772	G/A	—	uncertain significance
rs116538326	4:52,887,837	A/T	—	conflicting classifications of pathogenicity
rs560517192	4:52,887,841	T/A	—	likely benign
rs192993435	4:52,887,957	A/G	—	uncertain significance
rs981695292	4:52,887,976	G/A	—	uncertain significance
rs170424	4:52,888,026	A/C	—	benign
rs1237440030	4:52,888,102	T/G	—	uncertain significance
rs1456672499	4:52,888,445	G/C	—	uncertain significance
rs225163	4:52,888,499	G/A	—	benign
rs1736975241	4:52,888,556	C/T	—	uncertain significance
rs13989	4:52,888,557	A/G	—	benign
rs550469793	4:52,888,570	A/T	—	uncertain significance
rs1218465400	4:52,888,610	C/T	—	uncertain significance
rs142057805	4:52,888,744	A/G	—	benign
rs748673157	4:52,888,753	T/G	—	uncertain significance
rs976752494	4:52,888,821	T/C	—	uncertain significance
rs1489663099	4:52,888,885	C/A	—	uncertain significance
rs886059431	4:52,888,988	G/C	—	uncertain significance
rs886059432	4:52,888,996	T/C	—	uncertain significance
rs146235069	4:52,888,998	A/T	—	conflicting classifications of pathogenicity
rs886059433	4:52,889,005	C/A	—	uncertain significance
rs866935393	4:52,889,008	C/A	—	uncertain significance
rs76630071	4:52,889,010	C/T	—	uncertain significance
rs77404139	4:52,889,018	T/C	—	conflicting classifications of pathogenicity
rs543319107	4:52,889,121	C/T	—	uncertain significance
rs1189072144	4:52,889,147	A/G	—	uncertain significance
rs886059434	4:52,889,276	A/G	—	uncertain significance
rs1737000618	4:52,889,296	T/C	—	uncertain significance
rs770412144	4:52,889,323	T/G	—	uncertain significance
rs186149099	4:52,889,349	G/A	—	uncertain significance
rs79282232	4:52,889,399	G/A	—	conflicting classifications of pathogenicity
rs886059435	4:52,889,454	A/C	—	uncertain significance
rs185150054	4:52,889,578	A/T	—	uncertain significance
rs225165	4:52,889,602	T/A	—	benign
rs886059436	4:52,889,616	T/C	—	uncertain significance
rs1737008818	4:52,889,722	C/T	—	uncertain significance
rs886059437	4:52,889,748	C/A	—	uncertain significance
rs966699007	4:52,889,764	C/A	—	uncertain significance
rs565685629	4:52,889,858	C/T	—	uncertain significance
rs886059438	4:52,889,948	T/C	—	uncertain significance
rs1050318145	4:52,890,004	C/T	—	uncertain significance
rs759376332	4:52,890,100	T/A	—	uncertain significance
rs191486389	4:52,890,105	G/C	—	uncertain significance
rs2475212070	4:52,890,123	T/C	—	likely benign
rs2475212073	4:52,890,126	A/G	—	likely benign
rs556972226	4:52,890,133	T/C	—	uncertain significance
rs2110209464	4:52,890,135	T/C	—	likely benign
rs150395645	4:52,890,137	C/T	—	conflicting classifications of pathogenicity
rs573919387	4:52,890,140	A/G	—	uncertain significance
rs375438506	4:52,890,141	G/A	—	conflicting classifications of pathogenicity
rs1184617433	4:52,890,144	G/A	—	likely benign
rs780557395	4:52,890,147	G/A	—	likely benign
rs145108543	4:52,890,150	T/C	—	likely benign
rs779083146	4:52,890,151	G/A	—	uncertain significance
rs2475212205	4:52,890,159	G/A	—	likely benign
rs1408223045	4:52,890,165	C/T	—	uncertain significance
rs776593068	4:52,890,167	T/C	—	uncertain significance
rs2475212269	4:52,890,172	T/C	—	uncertain significance
rs1737020220	4:52,890,174	G/A	—	likely benign
rs2475212298	4:52,890,177	G/A	—	likely benign
rs1578123128	4:52,890,179	T/C	—	uncertain significance
rs1560565822	4:52,890,188	C/T	—	uncertain significance
rs2475212336	4:52,890,189	C/T	—	likely benign
rs763612255	4:52,890,195	G/A	—	likely benign
rs572922347	4:52,890,198	C/G	—	likely benign
rs767102412	4:52,890,199	G/A	—	uncertain significance
rs1204832968	4:52,890,201	C/T	—	likely benign
rs1240221402	4:52,890,207	A/G	—	likely benign
rs1296865393	4:52,890,217	C/A	—	uncertain significance
rs1021753591	4:52,890,219	G/C	—	likely benign
rs2110209580	4:52,890,222	C/T	—	likely benign
rs1179417557	4:52,890,228	G/A	—	likely benign
rs754115634	4:52,890,229	C/T	—	uncertain significance
rs545065102	4:52,890,230	G/A	—	uncertain significance
rs2475212560	4:52,890,234	C/G	—	uncertain significance
rs374923265	4:52,890,239	C/T	—	uncertain significance
rs879945095	4:52,890,242	C/T	—	uncertain significance
rs565410997	4:52,890,245	T/C	—	uncertain significance
rs772207314	4:52,890,246	A/G	—	likely benign
rs777817786	4:52,890,247	C/T	—	uncertain significance
rs745818288	4:52,890,251	A/G	—	likely benign
rs1737022947	4:52,890,253	T/A	—	uncertain significance

Showing 100 of 438 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.