D2HGDH gene homepage

General information
Gene symbol D2HGDH
Gene name D-2-hydroxyglutarate dehydrogenase
Chromosome 2
Chromosomal band p25.3
Imprinted Unknown
Genomic reference NG_012012.1
Transcript reference NM_152783.3
Exon/intron information NM_152783.3 exon/intron table
Associated with diseases D2HGA-1, ID
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Gajja Salomons and Eric Wever
Total number of public variants reported 107
Unique public DNA variants reported 53
Individuals with public variants 84
Hidden variants 14
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 07, 2009
Date last updated May 17, 2019
Version D2HGDH:190517

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_152783.3.
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
Homepage URL http://www.LOVD.nl/D2HGDH
External URL Orphanet
HGNC 28358
Entrez Gene 728294
PubMed articles D2HGDH
OMIM - Gene 609186
OMIM - Diseases D2HGA-1 (aciduria, D-2-hydroxyglutaric, type 1 (D2HGA-1))
HGMD D2HGDH
GeneCards D2HGDH
GeneTests D2HGDH


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00006068 2 D-2-hydroxyglutarate dehydrogenase NM_152783.3 NP_689996.4 107


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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.