ATL1

atlastin GTPase 1

Summary

The protein encoded by this gene is a GTPase and a Golgi body transmembrane protein. The encoded protein can form a homotetramer and has been shown to interact with spastin and with mitogen-activated protein kinase kinase kinase kinase 4. This protein may be involved in axonal maintenance as evidenced by the fact that defects in this gene are a cause of spastic paraplegia type 3. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Known Variants474 total

rsidPosition (GRCh37)AllelesClassClinVar
rs715250914:51,000,140A/T—benign
rs715297814:51,000,145G/A—benign
rs378340814:51,000,193C/T—benign
rs88605053014:51,026,829C/G—uncertain significance
rs203881998714:51,027,002G/A—uncertain significance
rs250441588514:51,027,005A/C—likely benign
rs76742961114:51,027,009A/G—uncertain significance
rs75259319914:51,027,010C/G—conflicting classifications of pathogenicity
rs14661392914:51,027,013T/C—likely benign
rs76542123114:51,027,016G/C—uncertain significance
rs203882041014:51,027,020G/C—uncertain significance
rs18496845914:51,027,021A/G—uncertain significance
rs76640840014:51,027,023T/G—uncertain significance
rs214017315014:51,027,027A/G—likely benign
rs36892559014:51,027,033G/A—likely benign
rs7488588714:51,027,127G/C—benign
rs7722428714:51,054,475G/C—benign
rs134237349214:51,054,529G/T—likely benign
rs126980770414:51,054,533C/T—likely benign
rs250448402314:51,054,534T/C—likely benign
rs11572292414:51,054,535G/A—benign
rs203911686614:51,054,538C/A—likely benign
rs214020164114:51,054,539T/C—likely benign
rs250448404314:51,054,541T/C—likely benign
rs159559791114:51,054,546C/T—uncertain significance
rs250448406814:51,054,548G/A—likely pathogenic
rs74535438014:51,054,549G/A—uncertain significance
rs214020165914:51,054,552G/A—uncertain significance
rs77220699014:51,054,558C/T—conflicting classifications of pathogenicity
rs77554077214:51,054,559G/A—likely benign
rs122371711214:51,054,560G/C—uncertain significance
rs250448415614:51,054,562A/C—uncertain significance
rs76043865914:51,054,568A/G—likely benign
rs250448419414:51,054,569T/A—uncertain significance
rs203911724514:51,054,574A/G—likely benign
rs156672290514:51,054,575T/C—uncertain significance
rs76316990014:51,054,584G/C—conflicting classifications of pathogenicity
rs76646159214:51,054,589G/C—uncertain significance
rs3501420914:51,054,598A/G—benign
rs214020174514:51,054,600T/C—uncertain significance
rs20045238114:51,054,604A/G—benign
rs203911779614:51,054,625C/A—likely benign
rs156672293614:51,054,628C/T—likely benign
rs75646414114:51,054,629A/G—uncertain significance
rs214020178014:51,054,632G/T—pathogenic
rs214020178414:51,054,639A/T—uncertain significance
rs133033151014:51,054,640T/C—likely benign
rs141790577714:51,054,641G/A—uncertain significance
rs1785068414:51,054,643C/G—not provided
rs250448459514:51,054,646T/A—uncertain significance
rs214020180414:51,054,647T/G—uncertain significance
rs203911812414:51,054,649C/T—likely benign
rs203911833914:51,054,661T/G—uncertain significance
rs14990142714:51,054,677C/T—uncertain significance
rs56483273814:51,054,678G/A—uncertain significance
rs203911865514:51,054,683C/T—uncertain significance
rs127878341214:51,054,690C/T—uncertain significance
rs20158068814:51,054,691G/C—likely benign
rs214020188814:51,054,692G/C—uncertain significance
rs250448486514:51,054,693A/C—uncertain significance
rs120750173314:51,054,696C/T—uncertain significance
rs97435941414:51,054,706C/T—likely benign
rs20031480814:51,054,710G/Amissense variantuncertain significance
rs76834254614:51,054,714T/C—likely benign
rs214020193414:51,054,720C/T—uncertain significance
rs76158353914:51,054,722G/T—uncertain significance
rs214020194114:51,054,723T/A—uncertain significance
rs95156876114:51,054,732C/T—uncertain significance
rs203911980814:51,054,763G/A—likely benign
rs214020197414:51,054,768A/G—uncertain significance
rs75963365114:51,054,775G/A—uncertain significance
rs76754340014:51,054,782T/C—uncertain significance
rs98560671614:51,054,785A/C—uncertain significance
rs214020200814:51,054,796G/C—uncertain significance
rs133732572714:51,054,800T/C—uncertain significance
rs76449214614:51,054,811C/G—likely benign
rs75429093914:51,054,814T/G—likely benign
rs7405157014:51,057,603G/A—likely benign
rs250449189314:51,057,639T/C—likely benign
rs76469742814:51,057,643C/G—likely benign
rs203915019314:51,057,669A/G—uncertain significance
rs203915027214:51,057,674G/T—uncertain significance
rs203915032714:51,057,675T/C—uncertain significance
rs86322477214:51,057,676T/G—conflicting classifications of pathogenicity
rs250449202814:51,057,680G/C—uncertain significance
rs14520458014:51,057,682C/A—likely benign
rs142325553314:51,057,684A/G—uncertain significance
rs37773653514:51,057,687A/G—conflicting classifications of pathogenicity
rs126862586114:51,057,693C/G—uncertain significance
rs214020483314:51,057,694A/T—likely benign
rs11249670914:51,057,698A/G—conflicting classifications of pathogenicity
rs250449210414:51,057,712G/A—pathogenic
rs214020485514:51,057,717G/T—uncertain significance
rs250449211714:51,057,724T/C—likely benign
rs106019714:51,057,727G/A—benign
rs75442397214:51,057,728C/T—pathogenic
rs60623126514:51,057,729G/A—pathogenic
rs156672395614:51,057,749A/G—uncertain significance
rs74803578714:51,057,751A/G—uncertain significance
rs76958112914:51,057,764T/C—uncertain significance

Showing 100 of 474 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.