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, XM_005268075.2, XM_005268077.2
Associated with diseases ID, L2HGA
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 140
Unique public DNA variants reported 13
Individuals with public variants 35
Hidden variants 11
Date created November 30, -0001
Date last updated September 28, 2016
Version L2HGDH:160928

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:20499
Entrez Gene 79944
PubMed articles L2HGDH
OMIM - Gene 609584
OMIM - Diseases L2HGA (aciduria, L-2-hydroxyglutaric (L2HGA))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00012456 14 L-2-hydroxyglutarate dehydrogenase NM_024884.2 NP_079160.1 140
00036342 14 transcript variant X3 XM_005268077.2 XP_005268134.1 -
00036343 14 transcript variant X1 XM_005268075.2 XP_005268132.1 -