DDX23 DEAD-box helicase 23

Information
Symbol
DDX23
Type
protein-coding
Description
DEAD-box helicase 23
Entrez Gene ID
9416
Genome
hg19
Position
chr12:49,223,539-49,245,946
Genome
hg38
Position
chr12:48,829,756-48,852,163
MIM
612172 OMIM
HGNC
HGNC:17347 HGNC
Ensembl
ENSG00000174243 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 4
Likely pathogenic 0 6
Benign 0 2
Likely benign 0 4
Conflicting classifications of pathogenicity 0 4
Uncertain significance 0 108
Ranking
ClinVar
0
0
6
118
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 :
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 PRPF28
SYNONYM SNRNP100
SYNONYM U5-100K
SYNONYM U5-100KD
SYNONYM prp28
MIM 612172 OMIM
HGNC HGNC:17347 HGNC
Ensembl ENSG00000174243 Ensembl
AllianceGenome HGNC:17347
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000703179.1 hg38 chr12 48,829,771 48,852,163 22,393
ENST00000308025.8 hg38 chr12 48,829,756 48,852,163 22,408
ENST00000308025.8 hg19 chr12 49,223,539 49,245,946 22,408
ENST00000703179.1 hg19 chr12 49,223,554 49,245,946 22,393
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