The 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 D2HGA1, ID
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Gajja Salomons and Eric Wever
Total number of public variants reported 117
Unique public DNA variants reported 61
Individuals with public variants 199
Hidden variants 18
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 January 11, 2023
Version D2HGDH:230111

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
HGNC 28358
Entrez Gene 728294
PubMed articles D2HGDH
OMIM - Gene 609186
OMIM - Diseases D2HGA1 (aciduria, D-2-hydroxyglutaric, type 1 (D2HGA-1))
GeneCards D2HGDH
GeneTests D2HGDH
Orphanet D2HGDH

Active transcripts




NCBI ID     

NCBI Protein ID     

00006068 2 D-2-hydroxyglutarate dehydrogenase NM_152783.3 NP_689996.4 117

Copyright & disclaimer
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