DHPS deoxyhypusine synthase

Information
Symbol
DHPS
Type
protein-coding
Description
deoxyhypusine synthase
Entrez Gene ID
1725
Genome
hg19
Position
chr19:12,786,531-12,792,694
Genome
hg38
Position
chr19:12,675,717-12,681,880
MIM
600944 OMIM
HGNC
HGNC:2869 HGNC
Ensembl
ENSG00000095059 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Likely pathogenic 0 8
Benign 0 12
Likely benign 0 8
Conflicting classifications of pathogenicity 0 4
Uncertain significance 0 34
Ranking
ClinVar
0
0
8
50
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
[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 DHS
SYNONYM DS
SYNONYM MIG13
SYNONYM NEDSSWI
MIM 600944 OMIM
HGNC HGNC:2869 HGNC
Ensembl ENSG00000095059 Ensembl
AllianceGenome HGNC:2869
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000594424.5 hg38 chr19 12,675,743 12,681,206 5,464
ENST00000210060.12 hg38 chr19 12,675,717 12,681,880 6,164
ENST00000351660.9 hg38 chr19 12,675,722 12,681,771 6,050
ENST00000210060.12 hg19 chr19 12,786,531 12,792,694 6,164
ENST00000351660.9 hg19 chr19 12,786,536 12,792,585 6,050
ENST00000594424.5 hg19 chr19 12,786,557 12,792,020 5,464
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