LOVD GLA homepage

General information
Gene name galactosidase, alpha
Gene symbol GLA
Chromosome Location Xq22.1
Database location www.LOVD.nl/MR
Curator Johan den Dunnen and LOVD-team, but with Curator vacancy
PubMed references View all (unique) PubMed references in the GLA database
Date of creation March 06, 2009
Last update October 24, 2010
Version GLA101024
Add sequence variant Submit a sequence variant
First time submitters Register here
Reference sequence file coding DNA reference sequence for describing sequence variants
Genomic refseq ID NG_007119.1
Transcript refseq ID NM_000169.2
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 1
Total number of individuals with variant(s) 2
Total number of variants reported 2
Subscribe to updates of this gene
NOTE Although we have initiated this database, we will not succeed to regularly update and curate it. We depend on the help of active volunteers to cope with this enormous task; a complete database is most helpful for users, especially for those using it trying to decide "is the variant found pathogenic or not". Do you perform sequence variant screening for any of these genes, please register and help to keep the databases up-to-date by submitting your findings (published and unpublished). Are you an expert for one of these genes or are you willing to help us, consider to become a curator (mail to; ddunnen @ HumGen.nl).

The work leading to the establishment of these LSDBs was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement nÂș 200754 - the GEN2PHEN project.

Graphical displays and utilities
Summary tables Summary of all sequence variants in the GLA database, sorted by type of variant (with graphical displays and statistics)
Reading-frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes
UCSC Genome Browser Show variants in the UCSC Genome Browser (compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Sequence variant tables
Unique sequence variants Listing of all unique sequence variants in the GLA database, without patient data
Complete sequence variant listing Listing of all sequence variants in the GLA database
Variants with no known pathogenicity Listing of all GLA variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)

Search the database
By type of variant View all sequence variants of a certain type
Simple search Query the database by selecting the most important variables (exon number, type of variant, disease phenotype)
Advanced search Query the database by selecting a combination of variables
Based on patient origin View all variants based on your patient origin search terms
Search through hidden entries Find the number of variant entries in the database (including hidden entries) matching your search terms.

Links to other resources
HGNC 4296
Entrez Gene 2717
OMIM - Gene 300644
OMIM - Disease Fabry disease
HGMD GLA
GeneCards GLA
GeneTests GLA
External link #1 Orphanet
External link #2 http://www.genomed.org/LOVD/CM/home.php?select_db=GLA
External link #3 https://research.cchmc.org/LOVD/home.php?select_db=GLA

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 © 2014. 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.