DHDH dihydrodiol dehydrogenase

Information
Symbol
DHDH
Type
protein-coding
Description
dihydrodiol dehydrogenase
Entrez Gene ID
27294
Genome
hg19
Position
chr19:49,436,956-49,448,226
Genome
hg38
Position
chr19:48,933,699-48,944,969
MIM
606377 OMIM
HGNC
HGNC:17887 HGNC
Ensembl
ENSG00000104808 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Uncertain significance 0 60
Ranking
ClinVar
0
0
0
60
2
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 2DD
SYNONYM HUM2DD
MIM 606377 OMIM
HGNC HGNC:17887 HGNC
Ensembl ENSG00000104808 Ensembl
AllianceGenome HGNC:17887
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000221403.7 hg38 chr19 48,933,699 48,944,969 11,271
ENST00000522614.5 hg38 chr19 48,933,705 48,944,963 11,259
ENST00000523250.5 hg38 chr19 48,933,702 48,944,959 11,258
ENST00000221403.7 hg19 chr19 49,436,956 49,448,226 11,271
ENST00000523250.5 hg19 chr19 49,436,959 49,448,216 11,258
ENST00000522614.5 hg19 chr19 49,436,962 49,448,220 11,259
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