LOVD ACADSB homepage

General information
Gene name acyl-Coenzyme A dehydrogenase, short/branched chain
Gene symbol ACADSB
Chromosome Location 10q26.13
Database location lovd.i-med.ac.at
Curator Stefanie Kalb
PubMed references View all (unique) PubMed references in the ACADSB database
Date of creation April 19, 2010
Last update May 18, 2011
Version ACADSB110518
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GenBank reference NG_008003.1
Total number of unique DNA variants reported 12
Total number of individuals with variant(s) 18
Total number of variants reported 33
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the ACADSB database, sorted by type of variant (with graphical displays and statistics)
UCSC Genome Browser Show variants in the UCSC 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 ACADSB database, without patient data
Complete sequence variant listing Listing of all sequence variants in the ACADSB database
Variants with no known pathogenicity Listing of all ACADSB 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
Entrez Gene 36
OMIM - Disease 2-@METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY
HGMD ACADSB
GeneCards ACADSB
GeneTests ACADSB