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_000159.2
Exon/intron information NM_000159.2 exon/intron table
Associated with diseases GA-1
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (3) Katrin Hinderhofer, Isabelle Rinke and Alexandra Tibelius
Total number of public variants reported 1071
Unique public DNA variants reported 229
Individuals with public variants 607
Hidden variants 1
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 November 04, 2019
Version GCDH:191104

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_000159.2.
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
External URL Orphanet
HGNC 4189
Entrez Gene 2639
PubMed articles GCDH
OMIM - Gene 608801
OMIM - Diseases GA-1 (glutaricaciduria, type 1 (GA-1))
HGMD GCDH
GeneCards GCDH
GeneTests GCDH


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000077 19 glutaryl-CoA dehydrogenase, transcript variant 1 NM_000159.2 NP_000150.1 1071


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