DBH dopamine beta-hydroxylase

Information
Symbol
DBH
Type
protein-coding
Description
dopamine beta-hydroxylase
Entrez Gene ID
1621
Genome
hg19
Position
chr9:136,501,485-136,524,451
Genome
hg38
Position
chr9:133,636,363-133,659,329
MIM
609312 OMIM
HGNC
HGNC:2689 HGNC
Ensembl
ENSG00000123454 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 4 14
Benign 0 144
Likely benign 0 290
Conflicting classifications of pathogenicity 0 50
not provided 4 12
Uncertain significance 0 436
Ranking
ClinVar
0
0
154
714
0
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
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 DBM
SYNONYM ORTHYP1
MIM 609312 OMIM
HGNC HGNC:2689 HGNC
Ensembl ENSG00000123454 Ensembl
AllianceGenome HGNC:2689
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000393056.8 hg38 chr9 133,636,363 133,659,329 22,967
ENST00000393056.8 hg19 chr9 136,501,485 136,524,451 22,967
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