The L2HGDH gene homepage - Global Variome shared LOVD (original) (raw)

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 443
Unique public DNA variants reported 111
Individuals with public variants 295
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 13, 2024
Version L2HGDH:240913
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 HGNC:20499
Entrez Gene 79944
PubMed articles L2HGDH
OMIM - Gene 609584
OMIM - Diseases L2HGA (aciduria, L-2-hydroxyglutaric (L2HGA))
HGMD L2HGDH
GeneCards L2HGDH
NIH Genetic Testing Registry L2HGDH
Orphanet L2HGDH

Active transcripts

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Operator Column type Example Matches
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! Date !2020-03 all entries not matching March, 2020
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combination Date 2019|2020 <2020-03 all entries in 2019 or 2020, and before March, 2020
Numeric 23 all entries exactly matching 23
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Example Matches
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Asian !Caucasian all entries containing 'Asian' but not containing 'Caucasian'
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ID Chr Name NCBI ID NCBI Protein ID DescendingVariants
00010922 14 L-2-hydroxyglutarate dehydrogenase NM_024884.2 NP_079160.1 443
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