D2HGDH D-2-hydroxyglutarate dehydrogenase

Information
Symbol
D2HGDH
Type
protein-coding
Description
D-2-hydroxyglutarate dehydrogenase
Entrez Gene ID
728294
Genome
hg19
Position
chr2:242,674,045-242,708,226
Genome
hg38
Position
chr2:241,734,630-241,768,811
MIM
609186 OMIM
HGNC
HGNC:28358 HGNC
Ensembl
ENSG00000180902 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 32
Likely pathogenic 0 8
Benign 0 122
Likely benign 0 232
Conflicting classifications of pathogenicity 0 60
not provided 0 2
Uncertain significance 0 316
Ranking
ClinVar
0
0
132
540
8
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 :
Search word :
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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 D2HGD
MIM 609186 OMIM
HGNC HGNC:28358 HGNC
Ensembl ENSG00000180902 Ensembl
AllianceGenome HGNC:28358
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000321264.9 hg38 chr2 241,734,630 241,768,811 34,182
ENST00000403782.5 hg38 chr2 241,734,602 241,768,809 34,208
ENST00000403782.5 hg19 chr2 242,674,017 242,708,224 34,208
ENST00000321264.9 hg19 chr2 242,674,045 242,708,226 34,182
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