ASXL1

ASXL transcriptional regulator 1

Summary

This gene is similar to the Drosophila additional sex combs gene, which encodes a chromatin-binding protein required for normal determination of segment identity in the developing embryo. The protein is a member of the Polycomb group of proteins, which are necessary for the maintenance of stable repression of homeotic and other loci. The protein is thought to disrupt chromatin in localized areas, enhancing transcription of certain genes while repressing the transcription of other genes. The protein encoded by this gene functions as a ligand-dependent co-activator for retinoic acid receptor in cooperation with nuclear receptor coactivator 1. Mutations in this gene are associated with myelodysplastic syndromes and chronic myelomonocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]

Known Variants844 total

rsidPosition (GRCh37)AllelesClassClinVar
rs11495045520:30,946,002G/A—benign
rs53076347620:30,946,297C/T—likely benign
rs77176710020:30,946,575A/G—benign
rs212275473320:30,946,579A/C—uncertain significance
rs204805648920:30,946,596G/A—likely benign
rs251513714020:30,946,607A/G—uncertain significance
rs251513722220:30,946,614G/A—likely benign
rs136568737520:30,946,619C/T—conflicting classifications of pathogenicity
rs212275503920:30,946,626C/T—likely benign
rs212275507220:30,946,631G/T—uncertain significance
rs124186191020:30,946,632C/T—likely benign
rs123236588220:30,946,644G/T—likely benign
rs251513743120:30,946,646C/T—likely benign
rs20019857420:30,946,654A/G—likely benign
rs18878833320:30,946,687C/T—benign
rs95213503920:30,947,113G/T—uncertain significance
rs75786438620:30,954,170C/T—likely benign
rs74664355620:30,954,175A/G—likely benign
rs212280960520:30,954,179T/A—likely benign
rs204820481320:30,954,189A/G—likely benign
rs212281019620:30,954,200A/G—uncertain significance
rs37345965020:30,954,204G/A—likely benign
rs76922312820:30,954,214A/G—uncertain significance
rs212281090720:30,954,222A/C—likely benign
rs144092200720:30,954,279G/C—likely benign
rs212281226220:30,954,282C/A—likely benign
rs229545420:30,954,295A/G—benign
rs7324126920:30,955,200A/G—benign
rs76886804520:30,955,528A/G—conflicting classifications of pathogenicity
rs56707688620:30,955,532G/T—uncertain significance
rs251519693120:30,955,546T/C—likely benign
rs18385016020:30,956,557A/T—likely benign
rs77282699320:30,956,804T/C—likely benign
rs251520420720:30,956,805T/C—likely benign
rs86785742720:30,956,834G/A—uncertain significance
rs148820204220:30,956,854A/G—likely benign
rs204825326420:30,956,873G/A—uncertain significance
rs204825343720:30,956,876G/C—uncertain significance
rs121481944520:30,956,877A/G—uncertain significance
rs74845583220:30,956,881G/T—conflicting classifications of pathogenicity
rs251520523620:30,956,884G/A—likely benign
rs77837408720:30,956,889A/G—likely benign
rs155590113820:30,956,891A/T—pathogenic
rs204825386220:30,956,896G/A—likely benign
rs117549949020:30,956,899T/C—likely benign
rs137583073720:30,956,903C/T—conflicting classifications of pathogenicity
rs204825404920:30,956,904G/A—uncertain significance
rs76969761220:30,956,919C/T—conflicting classifications of pathogenicity
rs14056262320:30,956,920G/A—likely benign
rs76268286620:30,956,925A/G—conflicting classifications of pathogenicity
rs14333737520:30,956,937T/C—likely benign
rs242487920:30,959,704A/G—benign
rs242488020:30,967,913C/Tintron variant—
rs386181820:30,970,431C/T——
rs818287620:30,987,550C/A——
rs5593573320:30,989,364C/T——
rs614170620:30,992,894C/Tintron variant—
rs55199640320:30,994,307T/C——
rs228154220:31,015,643T/C—benign
rs76597716020:31,015,924G/A—likely benign
rs76454238620:31,015,937G/T—uncertain significance
rs75217848720:31,015,943C/A—uncertain significance
rs74596097820:31,015,953G/A—likely benign
rs201138631220:31,015,958C/T—conflicting classifications of pathogenicity
rs212320898820:31,015,974G/T—uncertain significance
rs133945233720:31,015,984A/G—likely benign
rs74949561520:31,015,992C/T—conflicting classifications of pathogenicity
rs14270325320:31,015,993G/A—likely benign
rs137513973720:31,016,000G/A—uncertain significance
rs98796853920:31,016,010G/A—uncertain significance
rs212320944620:31,016,025C/A—uncertain significance
rs141438361020:31,016,033G/A—uncertain significance
rs37633232720:31,016,047C/T—likely benign
rs212320986620:31,016,058A/T—likely benign
rs214500920:31,016,067T/G—benign
rs251549154720:31,016,069G/A—likely benign
rs14002901920:31,016,111A/G—likely benign
rs608790320:31,016,119C/T—likely benign
rs212321053920:31,016,121C/T—likely benign
rs75620242020:31,016,122T/G—likely benign
rs75520341220:31,016,129A/G—likely benign
rs37005422420:31,016,149C/T—conflicting classifications of pathogenicity
rs132333477520:31,016,150G/A—likely benign
rs251549215520:31,016,151A/T—uncertain significance
rs57093151320:31,016,153C/T—likely benign
rs77761987420:31,016,154G/A—uncertain significance
rs117912157420:31,016,181C/T—pathogenic
rs212321110420:31,016,185C/G—likely benign
rs76790488920:31,016,205A/G—conflicting classifications of pathogenicity
rs75095531920:31,016,207C/Amissense variantuncertain significance
rs75393354520:31,016,242G/A—benign
rs381819020:31,016,314A/G—benign
rs491123020:31,017,119C/T—likely benign
rs37729166020:31,017,127C/T—likely benign
rs76690168620:31,017,136C/T—likely benign
rs37073196020:31,017,137G/A—likely benign
rs147534395920:31,017,143G/A—likely benign
rs101988169620:31,017,146C/A—uncertain significance
rs251549976220:31,017,169T/C—likely benign
rs251549977920:31,017,170G/A—likely benign

Showing 100 of 844 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.