LOVD GAA homepage

General information
Gene name glucosidase, alpha; acid
Gene symbol GAA
Chromosome Location 17q25.2-q25.3
Database location https://research.cchmc.org/LOVD2/
Curator Ammar Husami
PubMed references View all (unique) PubMed references in the GAA database
Date of creation April 20, 2010
Last update May 05, 2010
Version GAA100505
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Reference sequence file coding DNA reference sequence for describing sequence variants
Genomic refseq ID NC_000017.10
Transcript refseq ID NM_000152.3
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 199
Total number of individuals with variant(s) 3
Total number of variants reported 203
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the GAA 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 GAA database, without patient data
Complete sequence variant listing Listing of all sequence variants in the GAA database
Variants with no known pathogenicity Listing of all GAA 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 GAA - Pompe disease (glycogen storage disease type II) Johan T. den Dunnen, LUMC, The Netherlands, Arnold Reuser & Marian Kroos, EUR, Rotterdam, Nederland
External link #2 Locus Reference Genomic (LRG) Record for GAA
HGNC 4065
Entrez Gene 2548
OMIM - Gene 606800
UniProtKB (SwissProt/TrEMBL) P10253
HGMD GAA
GeneCards GAA
GeneTests GAA