LOVD D2HGDH homepage

General information
Gene name D-2-hydroxyglutarate dehydrogenase
Gene symbol D2HGDH
Chromosome Location 2q37.3
Database location grenada.lumc.nl
Curator Gajja Salomons
PubMed references View all (unique) PubMed references in the D2HGDH database
Date of creation May 07, 2009
Last update November 01, 2018
Version D2HGDH181101
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Reference sequence file coding DNA reference sequence for describing sequence variants
Genomic refseq ID NC_000002.11
Transcript refseq ID NM_152783.3
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 D2HGDH database, sorted by type of variant (with graphical displays and statistics)
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/D2HGDH
HGNC 28358
Entrez Gene 728294
OMIM - Gene 609186
OMIM - Disease D-2-hydroxyglutaric aciduria (D2HA)
GeneTests D2HGDH
External link Orphanet

Copyright & disclaimer
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