DHX8 DEAH-box helicase 8

Information
Symbol
DHX8
Type
protein-coding
Description
DEAH-box helicase 8
Entrez Gene ID
1659
Genome
hg19
Position
chr17:41,561,343-41,603,038
Genome
hg38
Position
chr17:43,483,975-43,525,670
MIM
600396 OMIM
HGNC
HGNC:2749 HGNC
Ensembl
ENSG00000067596 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely pathogenic 0 2
Benign 0 20
Likely benign 0 12
Uncertain significance 0 118
Ranking
ClinVar
0
0
0
150
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 :
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 DDX8
SYNONYM Dhr2
SYNONYM HRH1
SYNONYM PRP22
SYNONYM PRPF22
MIM 600396 OMIM
HGNC HGNC:2749 HGNC
Ensembl ENSG00000067596 Ensembl
AllianceGenome HGNC:2749
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000589898.2 hg38 chr17 43,483,975 43,544,799 60,825
ENST00000540306.5 hg38 chr17 43,483,963 43,526,786 42,824
ENST00000262415.8 hg38 chr17 43,483,975 43,525,670 41,696
ENST00000540306.5 hg19 chr17 41,561,331 41,604,154 42,824
ENST00000262415.8 hg19 chr17 41,561,343 41,603,038 41,696
ENST00000589898.2 hg19 chr17 41,561,343 41,622,167 60,825
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