L2HGDH L-2-hydroxyglutarate dehydrogenase

Information
Symbol
L2HGDH
Type
protein-coding
Description
L-2-hydroxyglutarate dehydrogenase
Entrez Gene ID
79944
Genome
hg19
Position
chr14:50,709,152-50,778,947
Genome
hg38
Position
chr14:50,242,434-50,312,229
MIM
609584 OMIM
HGNC
HGNC:20499 HGNC
Ensembl
ENSG00000087299 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 50
Likely pathogenic 0 28
Benign 0 62
Likely benign 0 142
Conflicting classifications of pathogenicity 0 20
Uncertain significance 0 232
Ranking
ClinVar
0
0
86
400
4
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
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Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM C14orf160
SYNONYM L2HGA
MIM 609584 OMIM
HGNC HGNC:20499 HGNC
Ensembl ENSG00000087299 Ensembl
AllianceGenome HGNC:20499
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000261699.8 hg38 chr14 50,237,563 50,312,168 74,606
ENST00000555423.5 hg38 chr14 50,282,443 50,312,226 29,784
ENST00000555610.1 hg38 chr14 50,283,853 50,312,154 28,302
ENST00000421284.7 hg38 chr14 50,245,651 50,312,229 66,579
ENST00000267436.9 hg38 chr14 50,242,434 50,312,229 69,796
ENST00000261699.8 hg19 chr14 50,704,281 50,778,886 74,606
ENST00000267436.9 hg19 chr14 50,709,152 50,778,947 69,796
ENST00000421284.7 hg19 chr14 50,712,369 50,778,947 66,579
ENST00000555423.5 hg19 chr14 50,749,161 50,778,944 29,784
ENST00000555610.1 hg19 chr14 50,750,571 50,778,872 28,302
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