IVD gene homepage

General information
Gene symbol IVD
Gene name isovaleryl-CoA dehydrogenase
Chromosome 15
Chromosomal band q14-q15
Imprinted Unknown
Genomic reference NG_011986.1
Transcript reference NM_002225.3
Exon/intron information NM_002225.3 exon/intron table
Associated with diseases IVA
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Ivo F.A.C. Fokkema
Total number of public variants reported 29
Unique public DNA variants reported 27
Individuals with public variants 10
Hidden variants 0
Notes The establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement nÂș 200754 - the GEN2PHEN project.
Date created April 05, 2011
Date last updated August 07, 2017
Version IVD:170807

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_002225.3.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
External URL Orphanet
HGNC 6186
Entrez Gene 3712
PubMed articles IVD
OMIM - Gene 607036
OMIM - Diseases IVA (isovaleric acidemia (IVA))
HGMD IVD
GeneCards IVD
GeneTests IVD


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000064 15 isovaleryl-CoA dehydrogenase, transcript variant 1 NM_002225.3 NP_002216.2 29


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 © 2011-2019. 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.