DOHH deoxyhypusine hydroxylase

Information
Symbol
DOHH
Type
protein-coding
Description
deoxyhypusine hydroxylase
Entrez Gene ID
83475
Genome
hg19
Position
chr19:3,490,822-3,500,672
Genome
hg38
Position
chr19:3,490,824-3,500,674
MIM
611262 OMIM
HGNC
HGNC:28662 HGNC
Ensembl
ENSG00000129932 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 10
Likely pathogenic 0 4
Likely benign 0 2
Uncertain significance 0 52
Ranking
ClinVar
0
0
2
56
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
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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 :
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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 HLRC1
SYNONYM NEDMVIC
SYNONYM hDOHH
MIM 611262 OMIM
HGNC HGNC:28662 HGNC
Ensembl ENSG00000129932 Ensembl
AllianceGenome HGNC:28662
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000672935.1 hg38 chr19 3,490,821 3,500,637 9,817
ENST00000427575.6 hg38 chr19 3,490,824 3,500,674 9,851
ENST00000672935.1 hg19 chr19 3,490,819 3,500,635 9,817
ENST00000427575.6 hg19 chr19 3,490,822 3,500,672 9,851
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