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CCHMC Molecular Genetics Laboratory Mutation Database

Gaucher Disease; glucosidase, beta, acid (GBA)

LOVD v.2.0 Build 36 [ Current LOVD status ]
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Curator: Ammar Husami

General information
Gene name	Gaucher Disease; glucosidase, beta, acid
Gene symbol	GBA
Chromosome Location	1q22
Database location	https://research.cchmc.org/LOVD2/
Curator	Ammar Husami
PubMed references	View all (unique) PubMed references in the GBA database
Date of creation	April 20, 2010
Last update	April 29, 2010
Version	GBA100429
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	NC_000001.10
Transcript refseq ID	NM_000157.3
Exon/intron information	Exon/intron information table
Total number of unique DNA variants reported	273
Total number of individuals with variant(s)	2
Total number of variants reported	279
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Graphical displays and utilities
Summary tables	Summary of all sequence variants in the GBA 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 GBA database, without patient data
Complete sequence variant listing	Listing of all sequence variants in the GBA database
Variants with no known pathogenicity	Listing of all GBA 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
HGNC	4177
Entrez Gene	2629
OMIM - Gene	606463
UniProtKB (SwissProt/TrEMBL)	P04062
HGMD	GBA
GeneCards	GBA
GeneTests	GBA