AAAS

aladin WD repeat nucleoporin

Summary

The protein encoded by this gene is a member of the WD-repeat family of regulatory proteins and may be involved in normal development of the peripheral and central nervous system. The encoded protein is part of the nuclear pore complex and is anchored there by NDC1. Defects in this gene are a cause of achalasia-addisonianism-alacrima syndrome (AAAS), also called triple-A syndrome or Allgrove syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]

Known Variants387 total

rsidPosition (GRCh37)AllelesClassClinVar
rs7545158512:53,701,054T/C—benign
rs154565012:53,701,104T/C—benign
rs13899414412:53,701,241G/A—likely benign
rs142881434112:53,701,279G/A—likely benign
rs249860007112:53,701,300C/T—likely benign
rs76137592012:53,701,316C/T—uncertain significance
rs3445126012:53,701,317C/T—likely benign
rs194430422112:53,701,318T/C—likely benign
rs88604964712:53,701,323G/A—uncertain significance
rs75567171012:53,701,333A/G—likely benign
rs148234216512:53,701,337G/C—uncertain significance
rs88604964812:53,701,348G/A—conflicting classifications of pathogenicity
rs11298770812:53,701,357A/G—likely benign
rs249860038712:53,701,359T/G—uncertain significance
rs147695732412:53,701,360A/C—uncertain significance
rs249860041512:53,701,363G/A—likely benign
rs77841096512:53,701,366G/A—likely benign
rs55469908012:53,701,384G/C—likely benign
rs74598444912:53,701,396A/T—likely benign
rs76996481812:53,701,397G/C—conflicting classifications of pathogenicity
rs3528213312:53,701,399A/G—likely benign
rs88604964912:53,701,416G/A—uncertain significance
rs159251088312:53,701,435A/G—likely benign
rs76750959612:53,701,436C/T—uncertain significance
rs249860108712:53,701,446G/A—uncertain significance
rs194431045112:53,701,462C/G—likely benign
rs76429821312:53,701,464G/C—uncertain significance
rs37548947512:53,701,465C/T—likely benign
rs75196723512:53,701,466G/A—uncertain significance
rs249860123212:53,701,471G/A—likely benign
rs78173894112:53,701,481C/A—uncertain significance
rs12191854812:53,701,482G/Astop gainedpathogenic
rs13793016912:53,701,486T/C—benign
rs145509571412:53,701,489G/A—likely benign
rs115792503212:53,701,501C/T—likely benign
rs93386104412:53,701,502A/G—likely benign
rs249860135012:53,701,503G/C—likely benign
rs249860136712:53,701,510G/A—likely benign
rs74800423112:53,701,511A/C—conflicting classifications of pathogenicity
rs104697058112:53,701,514G/T—likely benign
rs249860170612:53,701,610A/G—likely benign
rs76496644312:53,701,613A/G—likely benign
rs37739743712:53,701,614G/C—likely benign
rs194431362612:53,701,615C/T—likely benign
rs37063409612:53,701,620C/T—likely benign
rs37032532312:53,701,621G/A—conflicting classifications of pathogenicity
rs133999401412:53,701,627A/G—pathogenic
rs14239987812:53,701,628C/T—pathogenic
rs249860182112:53,701,640G/A—likely benign
rs156577629712:53,701,669G/A—uncertain significance
rs143070302112:53,701,680G/A—likely benign
rs249860202012:53,701,681G/A—uncertain significance
rs148760378912:53,701,701C/T—likely benign
rs249860218612:53,701,704G/A—likely benign
rs156577639012:53,701,715T/A—pathogenic
rs36855068112:53,701,726G/A—likely benign
rs249860227612:53,701,730G/A—likely benign
rs75079466712:53,701,731C/A—likely benign
rs194431949512:53,701,820C/A—likely benign
rs78131972912:53,701,825A/G—likely benign
rs194431963312:53,701,829C/T—likely benign
rs15051110312:53,701,835C/Gsplice region variantpathogenic
rs125698194212:53,701,847C/T—likely benign
rs75389469812:53,701,856A/G—likely benign
rs75273262012:53,701,860C/T—uncertain significance
rs75859826312:53,701,862G/A—likely benign
rs141034342312:53,701,865T/A—likely benign
rs11257982212:53,701,866C/T—conflicting classifications of pathogenicity
rs75136904112:53,701,867G/A—pathogenic
rs14437655212:53,701,871G/A—likely benign
rs6173986012:53,701,872C/T—uncertain significance
rs12191855112:53,701,879G/Amissense variantpathogenic
rs76831980412:53,701,880G/T—likely benign
rs77134914112:53,701,895A/G—likely benign
rs134500536112:53,701,903G/C—uncertain significance
rs249860301812:53,701,904T/C—likely benign
rs194432231612:53,701,924G/A—likely benign
rs194432235912:53,701,928T/C—likely benign
rs249860311112:53,701,937G/A—likely benign
rs77854419112:53,702,046C/T—likely benign
rs20168801212:53,702,053C/T—likely benign
rs130861313312:53,702,055T/C—likely benign
rs20083428512:53,702,058C/T—conflicting classifications of pathogenicity
rs249860351712:53,702,059C/T—likely benign
rs194432628112:53,702,067T/G—uncertain significance
rs20087196612:53,702,071A/G—uncertain significance
rs77581017412:53,702,075G/A—uncertain significance
rs134846532112:53,702,076C/T—likely benign
rs14095030812:53,702,081C/T—uncertain significance
rs76878690412:53,702,086C/T—uncertain significance
rs77456531512:53,702,087G/A—uncertain significance
rs249860368112:53,702,092C/T—uncertain significance
rs249860370412:53,702,100G/A—likely benign
rs249860372112:53,702,106G/C—likely benign
rs20217281012:53,702,112G/C—likely benign
rs37326817912:53,702,128C/T—uncertain significance
rs182714274612:53,702,138G/A—likely benign
rs54738545312:53,702,140G/A—likely benign
rs249860399512:53,702,148A/G—likely benign
rs20084160312:53,702,149G/A—likely benign

Showing 100 of 387 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.