L2HGDH gene homepage

General information
Gene symbol L2HGDH
Gene name L-2-hydroxyglutarate dehydrogenase
Chromosome 14
Chromosomal band q22.1
Imprinted Unknown
Genomic reference NG_008092.1
Transcript reference NM_024884.2
Exon/intron information NM_024884.2 exon/intron table
Associated with diseases ID, L2HGA
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Gajja Salomons and Eric Wever
Total number of public variants reported 430
Unique public DNA variants reported 102
Individuals with public variants 287
Hidden variants 173
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 August 06, 2020
Version L2HGDH:200806

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_024884.2.
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 http://www.LOVD.nl/L2HGDH
External URL Orphanet
HGNC 20499
Entrez Gene 79944
PubMed articles L2HGDH
OMIM - Gene 609584
OMIM - Diseases L2HGA (aciduria, L-2-hydroxyglutaric (L2HGA))
GeneCards L2HGDH
GeneTests L2HGDH

Active transcripts




NCBI ID     

NCBI Protein ID     

00010922 14 L-2-hydroxyglutarate dehydrogenase NM_024884.2 NP_079160.1 430

Copyright & disclaimer
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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.