LOVD L2HGDH homepage

General information
Gene name L-2-hydroxyglutarate dehydrogenase
Gene symbol L2HGDH
Chromosome Location 14q22.1
Database location grenada.lumc.nl
Curator Gajja Salomons
PubMed references View all (unique) PubMed references in the L2HGDH database
Date of creation May 07, 2009
Last update November 01, 2018
Version L2HGDH181101
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Reference sequence file coding DNA reference sequence for describing sequence variants
Genomic refseq ID NG_008092.1
Transcript refseq ID NM_024884.2
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 0
Total number of individuals with variant(s) 0
Total number of variants reported 0
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the L2HGDH database, sorted by type of variant (with graphical displays and statistics)
Reading-frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes
UCSC Genome Browser Show variants in the UCSC Genome Browser (compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage http://www.LOVD.nl/L2HGDH
HGNC 20499
Entrez Gene 79944
OMIM - Gene 609584
OMIM - Disease L-2-hydroxyglutaric aciduria (L2HA)
GeneTests L2HGDH
External link Orphanet

Copyright & disclaimer
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