View AAAS gene homepage

General information
Gene symbol AAAS
Gene name achalasia, adrenocortical insufficiency, alacrimia
Chromosome 12
Chromosomal band q13
Imprinted Unknown
Genomic reference NG_016775.1
Transcript reference NM_015665.5
Exon/intron information NM_015665.5
Associated with diseases AAAS, ID
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 0
Unique public DNA variants reported 0
Individuals with public variants 0
Hidden variants 0
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated July 21, 2016
Version AAAS:160721

Links to other resources
Homepage URL http://www.LOVD.nl/AAAS
HGNC 13666
Entrez Gene 8086
PubMed articles AAAS
OMIM - Gene 605378
OMIM - Diseases AAAS (achalasia-addisonianism-alacrimia syndrome (AAAS))
HGMD AAAS
GeneCards AAAS
GeneTests AAAS


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00024156 12 transcript variant 1 NM_015665.5 NP_056480.1 0


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2013-2017. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.