ACTG1

actin gamma 1

Summary

Actins are highly conserved proteins that are involved in various types of cell motility and in maintenance of the cytoskeleton. Three main groups of actin isoforms have been identified in vertebrate animals: alpha, beta, and gamma. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins co-exist in most cell types as components of the cytoskeleton and as mediators of internal cell motility. Actin gamma 1, encoded by this gene, is a cytoplasmic actin found in all cell types. Mutations in this gene are associated with DFNA20/26, a subtype of autosomal dominant non-syndromic sensorineural progressive hearing loss and also with Baraitser-Winter syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017]

Known Variants493 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1154916717:79,477,432T/C—benign
rs54097429117:79,477,457G/A—likely benign
rs18466115217:79,477,489G/A—likely benign
rs18830247717:79,477,517T/A—benign
rs53783962017:79,477,522T/G—likely benign
rs320470417:79,477,524C/G—benign
rs1154916517:79,477,570T/C—benign
rs55098479917:79,477,573C/G—benign
rs2847805317:79,477,582G/A—likely benign
rs78253001717:79,477,586C/T—likely benign
rs55010506617:79,477,588A/C—benign
rs14045810917:79,477,590G/C—benign
rs36849425417:79,477,604G/A—likely benign
rs78207801117:79,477,684T/C—benign
rs56786937017:79,477,698C/T—conflicting classifications of pathogenicity
rs78234101617:79,477,705G/A—uncertain significance
rs78223908317:79,477,710G/C—likely benign
rs37377160217:79,477,714G/A—benign
rs1154922317:79,477,716T/C—benign
rs36902002617:79,477,722G/A—likely benign
rs254438603317:79,477,723C/T—uncertain significance
rs155566634717:79,477,725T/C—likely benign
rs11776532317:79,477,731G/A—likely benign
rs72750287917:79,477,734G/T—likely benign
rs10489454717:79,477,735A/Gmissense variantpathogenic
rs37266580317:79,477,737G/A—likely benign
rs143381613917:79,477,740G/A—likely benign
rs155566636017:79,477,741G/A—uncertain significance
rs78234966017:79,477,743G/A—likely benign
rs53510702917:79,477,746G/C—likely benign
rs254438612617:79,477,747C/T—uncertain significance
rs20112191717:79,477,749C/T—conflicting classifications of pathogenicity
rs78244495517:79,477,755G/A—likely benign
rs14411495317:79,477,758G/A—likely benign
rs78184163917:79,477,767C/T—likely benign
rs254438620117:79,477,780A/C—uncertain significance
rs203171348317:79,477,788G/A—likely benign
rs14826785517:79,477,791G/A—likely benign
rs72750288017:79,477,793T/G—uncertain significance
rs155566637117:79,477,794G/A—conflicting classifications of pathogenicity
rs78227157217:79,477,800T/A—likely benign
rs37590351717:79,477,803G/A—likely benign
rs155566637317:79,477,805C/A—uncertain significance
rs78221747317:79,477,808G/C—conflicting classifications of pathogenicity
rs14365981417:79,477,815G/A—likely benign
rs113940617:79,477,818A/G—benign
rs14086567017:79,477,821G/A—likely benign
rs11130552617:79,477,827C/G—likely benign
rs113980717:79,477,830C/T—benign
rs119297798417:79,477,831G/C—pathogenic
rs155566639017:79,477,836C/T—likely benign
rs155566639217:79,477,840C/T—pathogenic
rs156806020017:79,477,841G/A—conflicting classifications of pathogenicity
rs11326291217:79,477,842C/G—likely pathogenic
rs159854692117:79,477,844C/G—uncertain significance
rs254438639517:79,477,846G/C—conflicting classifications of pathogenicity
rs20008902117:79,477,848G/T—likely benign
rs10489454517:79,477,850G/Cmissense variantpathogenic
rs1154920017:79,477,853C/T—uncertain significance
rs56838084117:79,477,854G/A—likely benign
rs37054673417:79,477,864A/G—likely benign
rs159854700017:79,477,867G/A—likely benign
rs78186544817:79,477,868A/C—uncertain significance
rs133587929617:79,477,869C/G—likely benign
rs155566641017:79,477,870A/G—likely benign
rs37611420017:79,477,879C/T—likely benign
rs7677092717:79,477,891A/G—benign
rs52763214317:79,477,897C/T—benign
rs254438677417:79,477,933C/T—likely benign
rs254438678117:79,477,934C/T—likely benign
rs203172417817:79,477,936C/G—likely benign
rs78211541917:79,477,940C/T—likely benign
rs78255591417:79,477,941C/T—likely benign
rs135845518017:79,477,945C/T—likely benign
rs36969198517:79,477,946G/A—likely benign
rs254438684217:79,477,954T/C—conflicting classifications of pathogenicity
rs78232955217:79,477,956G/A—likely benign
rs13933986917:79,477,959C/T—likely benign
rs78237123317:79,477,974C/T—likely benign
rs78281844417:79,477,979G/A—conflicting classifications of pathogenicity
rs37774560017:79,477,980G/A—likely benign
rs321111017:79,477,983G/A—likely benign
rs254438697917:79,477,989C/G—uncertain significance
rs254438699017:79,477,991C/T—uncertain significance
rs72750288117:79,477,992C/T—likely benign
rs254438700917:79,477,994T/C—uncertain significance
rs254438702317:79,477,996T/C—uncertain significance
rs155566647117:79,477,997G/C—uncertain significance
rs155566647217:79,478,001C/T—likely benign
rs15006715017:79,478,004G/A—likely benign
rs254438705917:79,478,005T/A—uncertain significance
rs113598917:79,478,007G/A—benign
rs37173801317:79,478,013G/A—likely benign
rs78221563517:79,478,016C/T—likely benign
rs78235432217:79,478,017G/A—uncertain significance
rs113940517:79,478,019A/G—benign
rs254438714817:79,478,023A/G—conflicting classifications of pathogenicity
rs155566648417:79,478,024T/C—uncertain significance
rs78203811617:79,478,025G/A—likely benign
rs18712746717:79,478,028G/A—likely benign

Showing 100 of 493 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.