The 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 435
Unique public DNA variants reported 105
Individuals with public variants 288
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 September 17, 2021
Version L2HGDH:210917

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
HGNC 20499
Entrez Gene 79944
PubMed articles L2HGDH
OMIM - Gene 609584
OMIM - Diseases L2HGA (aciduria, L-2-hydroxyglutaric (L2HGA))
HGMD L2HGDH
GeneCards L2HGDH
GeneTests L2HGDH
Orphanet L2HGDH


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00010922 14 L-2-hydroxyglutarate dehydrogenase NM_024884.2 NP_079160.1 435


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