LOVD GLA homepage

General information
Gene name galactosidase, alpha
Gene symbol GLA
Chromosome Location Xq21.3-q22
Database location https://research.cchmc.org/LOVD2/
Curator Ammar Husami
PubMed references View all (unique) PubMed references in the GLA database
Date of creation April 19, 2010
Last update December 12, 2012
Version GLA121212
Add sequence variant Submit a sequence variant
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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 386
Total number of individuals with variant(s) 4
Total number of variants reported 386
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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

Links to other resources
External link #1 GLA database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre
External link #2 Locus Reference Genomic (LRG) Record for GLA
HGNC 4296
Entrez Gene 2717
OMIM - Gene 300644
UniProtKB (SwissProt/TrEMBL) P06280
HGMD GLA
GeneCards GLA
GeneTests GLA