The GCDH gene homepage

Variant classification: please note that where there are several records of the same variant, classification of that variant
may differ between records depending on the reporting publication or the submitter's opinion. For the curator’s opinion on
the classification, please view the SUMMARY record or the concluded functional effect (value in column Effect after the /).
General information
Gene symbol GCDH
Gene name glutaryl-CoA dehydrogenase
Chromosome 19
Chromosomal band p13.2
Imprinted Unknown
Genomic reference NG_009292.1
Transcript reference NM_000159.3
Associated with diseases GA1
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (4) Katrin Hinderhofer, Isabelle Rinke, Alexandra Tibelius, and Sabrina Oeser
Total number of public variants reported 1299
Unique public DNA variants reported 310
Individuals with public variants 696
Hidden variants 8
Notes Establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement nº 200754 - the GEN2PHEN project.
Date created April 29, 2010
Date last updated April 19, 2024
Version GCDH:240419

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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
Homepage URL https://www.LOVD.nl/GCDH
HGNC 4189
Entrez Gene 2639
PubMed articles GCDH
OMIM - Gene 608801
OMIM - Diseases GA1 (glutaricaciduria, type 1 (GA-1))
HGMD GCDH
GeneCards GCDH
GeneTests GCDH
Orphanet GCDH


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00025890 19 transcript variant 1 NM_000159.3 NP_000150.1 1299


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