ACTC1

actin alpha cardiac muscle 1

Summary

Actins are highly conserved proteins that are involved in various types of cell motility. Polymerization of globular actin (G-actin) leads to a structural filament (F-actin) in the form of a two-stranded helix. Each actin can bind to four others. The protein encoded by this gene belongs to the actin family which is comprised of three main groups of actin isoforms, alpha, beta, and gamma. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. Defects in this gene have been associated with idiopathic dilated cardiomyopathy (IDC) and familial hypertrophic cardiomyopathy (FHC). [provided by RefSeq, Jul 2008]

Known Variants597 total

rsidPosition (GRCh37)AllelesClassClinVar
rs88605105915:35,080,321G/A—uncertain significance
rs14000401115:35,080,338G/A—uncertain significance
rs148270539115:35,080,352T/C—uncertain significance
rs88605106015:35,080,407G/C—uncertain significance
rs96627573515:35,080,425A/G—uncertain significance
rs159575887915:35,080,434A/G—uncertain significance
rs88605106115:35,080,445C/A—uncertain significance
rs60468915:35,080,523C/T—benign
rs7995548615:35,080,560C/A—likely benign
rs88605106215:35,080,626C/T—uncertain significance
rs55778229615:35,080,694C/T—uncertain significance
rs18515119715:35,080,720G/A—uncertain significance
rs95706191315:35,080,803G/A—uncertain significance
rs56331802815:35,080,811G/A—uncertain significance
rs98164850115:35,080,813G/A—uncertain significance
rs88605106315:35,080,816G/T—uncertain significance
rs56006542715:35,080,832G/A—uncertain significance
rs75626927015:35,080,839C/T—uncertain significance
rs88605106415:35,080,860C/A—uncertain significance
rs92000146415:35,080,864G/A—uncertain significance
rs75049556415:35,080,881C/G—conflicting classifications of pathogenicity
rs11266073015:35,080,939A/G—likely benign
rs189163565915:35,080,989C/A—uncertain significance
rs11306342715:35,081,100A/G—likely benign
rs88605106515:35,081,111C/A—uncertain significance
rs88605106615:35,081,131C/A—uncertain significance
rs88605106715:35,081,142C/T—uncertain significance
rs803724115:35,081,168G/C—benign
rs189164080315:35,081,235G/A—uncertain significance
rs75953064315:35,081,295A/C—uncertain significance
rs76494478915:35,081,310G/C—uncertain significance
rs18972584915:35,081,351C/G—conflicting classifications of pathogenicity
rs189164504115:35,081,383G/A—uncertain significance
rs88605106815:35,081,392T/A—uncertain significance
rs13955936715:35,081,394G/A—conflicting classifications of pathogenicity
rs75068623515:35,081,480C/A—uncertain significance
rs88605106915:35,081,498T/A—uncertain significance
rs88605107015:35,081,523T/C—uncertain significance
rs88605107115:35,081,543T/G—uncertain significance
rs88605107215:35,081,551C/T—uncertain significance
rs11603461115:35,081,609T/C—likely benign
rs54998667615:35,081,630G/A—uncertain significance
rs76654283215:35,081,678C/A—uncertain significance
rs93456842615:35,081,686C/T—uncertain significance
rs56859672015:35,081,691C/A—benign
rs7338769315:35,081,738C/G—likely benign
rs8013914115:35,081,745A/C—likely benign
rs88605107315:35,081,748A/G—uncertain significance
rs7910401015:35,081,757C/T—likely benign
rs7859697815:35,081,767C/T—likely benign
rs14508504815:35,081,832C/T—likely benign
rs88605107415:35,081,836G/A—uncertain significance
rs88605107515:35,081,838G/T—uncertain significance
rs7872764915:35,081,856C/T—likely benign
rs88703248515:35,081,857G/A—uncertain significance
rs96997500015:35,081,861G/T—uncertain significance
rs74673285715:35,081,871G/C—uncertain significance
rs88605107615:35,081,874C/A—uncertain significance
rs86801310515:35,081,876G/A—conflicting classifications of pathogenicity
rs88605107715:35,081,905C/A—uncertain significance
rs11618485115:35,081,925A/C—likely benign
rs88605107815:35,081,934G/C—uncertain significance
rs88605107915:35,081,939G/T—uncertain significance
rs88605108015:35,081,967G/T—uncertain significance
rs88605108115:35,081,970G/T—uncertain significance
rs88605108215:35,081,994T/A—uncertain significance
rs94290193415:35,082,023T/C—uncertain significance
rs99968827315:35,082,029A/C—uncertain significance
rs88605108315:35,082,052G/T—uncertain significance
rs11529591115:35,082,095T/C—likely benign
rs56371349815:35,082,129G/A—uncertain significance
rs137015515:35,082,141G/A—benign
rs88605108415:35,082,191A/T—uncertain significance
rs88605108515:35,082,220C/A—conflicting classifications of pathogenicity
rs137015415:35,082,225C/G—uncertain significance
rs88605108615:35,082,306A/T—uncertain significance
rs90141502715:35,082,312C/T—benign
rs88605108715:35,082,329C/T—uncertain significance
rs7400972015:35,082,344G/A—likely benign
rs88605108815:35,082,366C/T—uncertain significance
rs55182055415:35,082,389C/G—uncertain significance
rs54024040715:35,082,399C/T—conflicting classifications of pathogenicity
rs14903178515:35,082,476T/A—likely benign
rs55365270615:35,082,497C/T—benign
rs37754686215:35,082,573C/T—uncertain significance
rs372975815:35,082,574G/A—uncertain significance
rs74805353915:35,082,578T/A—uncertain significance
rs2873066715:35,082,591G/A—likely benign
rs14340746615:35,082,593A/T—uncertain significance
rs20125811815:35,082,597G/A—likely benign
rs75659444915:35,082,608G/C—conflicting classifications of pathogenicity
rs72750441515:35,082,610A/G—uncertain significance
rs122613249815:35,082,612C/A—uncertain significance
rs159575989915:35,082,614T/A—uncertain significance
rs76468397615:35,082,616G/A—likely benign
rs214042890215:35,082,618A/C—uncertain significance
rs189167985315:35,082,619G/A—likely benign
rs86902535515:35,082,623T/C—uncertain significance
rs250417585815:35,082,626C/T—likely pathogenic
rs189168014515:35,082,627G/A—uncertain significance

Showing 100 of 597 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.