DHX38 DEAH-box helicase 38

Information
Symbol
DHX38
Type
protein-coding
Description
DEAH-box helicase 38
Entrez Gene ID
9785
Genome
hg19
Position
chr16:72,127,746-72,146,811
Genome
hg38
Position
chr16:72,093,847-72,112,912
MIM
605584 OMIM
HGNC
HGNC:17211 HGNC
Ensembl
ENSG00000140829 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely pathogenic 0 8
Benign 0 78
Likely benign 0 704
Conflicting classifications of pathogenicity 0 10
not provided 0 2
Uncertain significance 0 806
Ranking
ClinVar
0
0
166
1,404
4
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 DDX38
SYNONYM PRP16
SYNONYM PRPF16
SYNONYM RP84
MIM 605584 OMIM
HGNC HGNC:17211 HGNC
Ensembl ENSG00000140829 Ensembl
AllianceGenome HGNC:17211
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000268482.8 hg38 chr16 72,093,847 72,112,912 19,066
ENST00000268482.8 hg19 chr16 72,127,746 72,146,811 19,066
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