ANKRD11

ankyrin repeat domain 11

Summary

This locus encodes an ankryin repeat domain-containing protein. The encoded protein inhibits ligand-dependent activation of transcription. Mutations in this gene have been associated with KBG syndrome, which is characterized by macrodontia, distinctive craniofacial features, short stature, skeletal anomalies, global developmental delay, seizures and intellectual disability. Alternatively spliced transcript variants have been described. Related pseudogenes exist on chromosomes 2 and X. [provided by RefSeq, Jan 2012]

Known Variants1,896 total

rsidPosition (GRCh37)AllelesClassClinVar
rs123422463716:89,334,606G/C—benign
rs139297004216:89,334,618C/T—benign
rs117308009316:89,334,621G/C—benign
rs123554758916:89,334,661G/A—likely benign
rs145540621316:89,334,679G/A—likely benign
rs37364997116:89,334,728G/A—benign
rs55356482916:89,334,878C/T—benign
rs254411653816:89,334,899A/G—uncertain significance
rs75677553516:89,334,901T/A—likely benign
rs96113417616:89,334,921C/T—uncertain significance
rs74998714316:89,334,922G/A—likely benign
rs254411663216:89,334,925C/T—uncertain significance
rs144845489416:89,334,926A/G—conflicting classifications of pathogenicity
rs215166050516:89,334,933C/T—likely pathogenic
rs97266934716:89,334,934G/T—likely pathogenic
rs131273981616:89,334,946C/A—likely benign
rs77981312316:89,334,949C/G—uncertain significance
rs106479626416:89,334,951C/T—uncertain significance
rs203283228616:89,334,952G/A—likely benign
rs215166064816:89,334,957C/T—uncertain significance
rs78106747116:89,334,991C/T—likely benign
rs254411692016:89,334,993G/T—uncertain significance
rs254411692616:89,334,997C/T—likely benign
rs203283692316:89,335,005G/A—conflicting classifications of pathogenicity
rs215166090816:89,335,008A/G—uncertain significance
rs203283759216:89,335,023C/A—uncertain significance
rs254411700316:89,335,026C/T—uncertain significance
rs77316281916:89,335,030C/G—likely benign
rs156753317416:89,335,031A/G—uncertain significance
rs203283929316:89,335,033G/A—likely benign
rs254411703016:89,335,034G/A—uncertain significance
rs14328764416:89,335,039G/C—likely benign
rs79704490016:89,335,053G/Astop gainedpathogenic
rs77472246516:89,335,063G/A—likely benign
rs113169151216:89,335,064A/C—conflicting classifications of pathogenicity
rs203284235916:89,335,066G/T—likely pathogenic
rs254411715816:89,335,070G/C—uncertain significance
rs254411716416:89,335,073T/C—uncertain significance
rs56284569616:89,335,075C/T—likely benign
rs77604155016:89,335,076G/A—likely benign
rs18694793416:89,335,159G/A—likely benign
rs7403370516:89,335,212G/A—benign
rs5920482016:89,335,375G/T—benign
rs18839950916:89,337,087A/C—likely benign
rs230663216:89,337,143C/A—benign
rs19070243716:89,337,174A/G—likely benign
rs20079149016:89,337,196G/A—benign
rs36918897316:89,337,211C/T—benign
rs76898456516:89,337,213C/T—likely benign
rs77719832716:89,337,214G/A—benign
rs128497896316:89,337,215C/T—likely benign
rs37318087616:89,337,221C/T—conflicting classifications of pathogenicity
rs215167559016:89,337,224C/A—pathogenic
rs76721645016:89,337,230T/G—likely benign
rs135487497316:89,337,232C/T—uncertain significance
rs203308597616:89,337,242T/A—likely pathogenic
rs203308633116:89,337,251C/T—uncertain significance
rs75237896616:89,337,252G/A—likely benign
rs20025112216:89,337,255C/T—likely benign
rs215167575616:89,337,266A/G—likely pathogenic
rs156753729616:89,337,277C/T—pathogenic
rs156753730416:89,337,278G/A—conflicting classifications of pathogenicity
rs155552179916:89,337,280G/T—likely pathogenic
rs15039372216:89,337,281C/T—conflicting classifications of pathogenicity
rs13816194916:89,337,282G/A—likely benign
rs254413993016:89,337,290G/A—pathogenic
rs57527237716:89,337,294G/A—likely benign
rs125043279316:89,337,295C/T—conflicting classifications of pathogenicity
rs156753741316:89,337,296G/A—conflicting classifications of pathogenicity
rs56443771516:89,337,300T/G—likely benign
rs36985508916:89,337,312G/A—likely benign
rs144089863816:89,337,317C/T—uncertain significance
rs215167603516:89,337,318C/G—likely pathogenic
rs88604197616:89,337,319T/C—pathogenic
rs19974106216:89,337,320G/T—conflicting classifications of pathogenicity
rs75386987916:89,337,334C/T—likely benign
rs76393095116:89,337,335G/A—likely benign
rs37029017916:89,337,367C/T—likely benign
rs7859275316:89,337,368G/A—likely benign
rs5708780816:89,337,506C/T—likely benign
rs5627651016:89,337,526G/A—benign
rs11284873216:89,337,535G/A—likely benign
rs13883139416:89,337,555G/A—likely benign
rs720664616:89,340,504G/Adownstream gene variant—
rs1270911216:89,341,168C/G—benign
rs20141648916:89,341,212C/T—likely benign
rs20059956016:89,341,214G/A—likely benign
rs254417857816:89,341,220A/G—likely pathogenic
rs156754392016:89,341,224G/A—pathogenic
rs254417859316:89,341,226C/T—uncertain significance
rs75850281316:89,341,233G/A—likely benign
rs135817639116:89,341,234G/A—likely benign
rs254417862716:89,341,236G/A—uncertain significance
rs254417863916:89,341,239T/C—uncertain significance
rs14284530116:89,341,240G/A—likely benign
rs203350353316:89,341,241T/C—uncertain significance
rs215170150316:89,341,251C/T—likely pathogenic
rs78128579916:89,341,252G/A—likely benign
rs14743450516:89,341,253G/C—conflicting classifications of pathogenicity
rs14342996816:89,341,258C/T—likely benign

Showing 100 of 1,896 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.