TCAP

titin-cap

Summary

Sarcomere assembly is regulated by the muscle protein titin. Titin is a giant elastic protein with kinase activity that extends half the length of a sarcomere. It serves as a scaffold to which myofibrils and other muscle related proteins are attached. This gene encodes a protein found in striated and cardiac muscle that binds to the titin Z1-Z2 domains and is a substrate of titin kinase, interactions thought to be critical to sarcomere assembly. Mutations in this gene are associated with limb-girdle muscular dystrophy type 2G. [provided by RefSeq, Jul 2008]

Known Variants226 total

rsidPosition (GRCh37)AllelesClassClinVar
rs3582133317:37,821,275A/G—benign
rs93199217:37,821,435T/G—benign
rs4555044217:37,821,595A/G—likely benign
rs36817592617:37,821,600A/G—likely benign
rs156786480417:37,821,613A/G—likely pathogenic
rs254373761817:37,821,626A/G—uncertain significance
rs20166442817:37,821,628C/A—uncertain significance
rs254373762217:37,821,631A/G—uncertain significance
rs159780514417:37,821,634T/A—uncertain significance
rs89934236717:37,821,635G/T—uncertain significance
rs75654878517:37,821,636C/T—likely benign
rs121970007017:37,821,637G/T—pathogenic
rs4549519217:37,821,644C/Astop gainedpathogenic
rs76222466017:37,821,645G/A—likely benign
rs254373771417:37,821,646G/C—uncertain significance
rs214507222417:37,821,648G/A—likely benign
rs104272447417:37,821,649G/A—uncertain significance
rs76435023617:37,821,655T/A—uncertain significance
rs214507226117:37,821,658G/A—uncertain significance
rs86902553017:37,821,661C/T—uncertain significance
rs75079620117:37,821,662G/C—uncertain significance
rs119102874217:37,821,663C/T—likely benign
rs88603898917:37,821,664C/T—uncertain significance
rs4561453617:37,821,665G/A—uncertain significance
rs75405471217:37,821,666G/C—likely benign
rs205724724417:37,821,670G/T—uncertain significance
rs14650227617:37,821,672C/G—conflicting classifications of pathogenicity
rs14101945817:37,821,678G/Astop gainedpathogenic
rs99326198517:37,821,682G/C—uncertain significance
rs77885165217:37,821,687G/A—pathogenic
rs138406643517:37,821,690G/A—likely benign
rs74700552517:37,821,694C/T—likely benign
rs14474102117:37,821,699A/G—likely benign
rs128244503917:37,821,700C/G—uncertain significance
rs155560697817:37,821,704C/G—uncertain significance
rs134356155717:37,821,705C/A—likely benign
rs205724754317:37,821,706A/T—uncertain significance
rs14552490917:37,821,709C/T—uncertain significance
rs108530782217:37,821,710G/A—uncertain significance
rs106050477017:37,821,714C/T—likely benign
rs77969952017:37,821,715G/Tstop gainedpathogenic
rs205724769617:37,821,717G/A—likely benign
rs97108700117:37,821,719A/G—uncertain significance
rs74888221817:37,821,720G/A—likely benign
rs11318744817:37,821,723G/A—likely pathogenic
rs254373799717:37,821,724T/C—pathogenic
rs79472917817:37,821,727G/T—pathogenic
rs254373801117:37,821,728T/G—uncertain significance
rs88603853317:37,821,729G/A—likely benign
rs205724784917:37,821,730T/G—likely benign
rs125972677517:37,821,732G/A—uncertain significance
rs37204948317:37,821,735C/A—likely benign
rs254373802717:37,821,737G/T—likely benign
rs76243399817:37,821,738C/G—likely benign
rs141476368917:37,821,740A/G—likely benign
rs294151017:37,821,770C/T—benign
rs56735090417:37,821,952C/T—likely benign
rs19986581417:37,821,953C/G—likely benign
rs138965861517:37,821,954C/T—likely benign
rs37222276817:37,821,955T/A—likely benign
rs77391311717:37,821,956C/A—uncertain significance
rs119221238417:37,821,958C/T—likely benign
rs145141508817:37,821,969C/G—uncertain significance
rs37531056917:37,821,971G/T—conflicting classifications of pathogenicity
rs155560702717:37,821,974C/G—uncertain significance
rs75989364417:37,821,975C/T—likely benign
rs88604342717:37,821,976C/T—uncertain significance
rs205724973517:37,821,980A/G—uncertain significance
rs120271985517:37,821,985G/A—uncertain significance
rs127934083517:37,821,987G/A—likely benign
rs254373888217:37,821,988G/A—uncertain significance
rs39751686117:37,821,990C/T—conflicting classifications of pathogenicity
rs118187724417:37,821,992C/T—uncertain significance
rs205724991117:37,821,995A/G—uncertain significance
rs4551369817:37,822,003G/A—uncertain significance
rs205725004817:37,822,006A/G—uncertain significance
rs10489465517:37,822,015C/Tstop gainedpathogenic
rs93433255717:37,822,023G/C—likely benign
rs143543766017:37,822,024C/T—pathogenic
rs106050476917:37,822,026G/A—likely benign
rs88604277217:37,822,027T/C—uncertain significance
rs75476249117:37,822,028G/A—uncertain significance
rs36944720717:37,822,029C/A—likely pathogenic
rs254373905117:37,822,030C/G—uncertain significance
rs106479682917:37,822,033G/A—uncertain significance
rs54976956617:37,822,036C/G—uncertain significance
rs254373909317:37,822,042C/T—uncertain significance
rs120184677617:37,822,044G/A—likely benign
rs75804857717:37,822,045C/T—uncertain significance
rs77738449417:37,822,046G/A—uncertain significance
rs4545880217:37,822,049C/T—benign
rs77158529517:37,822,050G/A—likely benign
rs205725064217:37,822,052C/T—uncertain significance
rs37011820117:37,822,053C/G—likely benign
rs77715345017:37,822,056G/C—uncertain significance
rs74621901217:37,822,057C/T—likely benign
rs156786511017:37,822,059G/A—conflicting classifications of pathogenicity
rs77013399317:37,822,060A/T—uncertain significance
rs148010997417:37,822,062G/A—uncertain significance
rs77563621217:37,822,066C/Asynonymous variantlikely benign

Showing 100 of 226 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.