DDX43 DEAD-box helicase 43

Information
Symbol
DDX43
Type
protein-coding
Description
DEAD-box helicase 43
Entrez Gene ID
55510
Genome
hg19
Position
chr6:74,104,551-74,127,289
Genome
hg38
Position
chr6:73,394,828-73,417,566
MIM
606286 OMIM
HGNC
HGNC:18677 HGNC
Ensembl
ENSG00000080007 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 4
Likely benign 0 6
Uncertain significance 0 64
Ranking
ClinVar
0
0
0
74
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 CT13
SYNONYM HAGE
MIM 606286 OMIM
HGNC HGNC:18677 HGNC
Ensembl ENSG00000080007 Ensembl
AllianceGenome HGNC:18677
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000370336.5 hg38 chr6 73,394,828 73,417,566 22,739
ENST00000370336.5 hg19 chr6 74,104,551 74,127,289 22,739
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