DDX39A DExD-box helicase 39A

Information
Symbol
DDX39A
Type
protein-coding
Description
DExD-box helicase 39A
Entrez Gene ID
10212
Genome
hg19
Position
chr19:14,519,610-14,530,153
Genome
hg38
Position
chr19:14,408,798-14,419,341
MIM
619906 OMIM
HGNC
HGNC:17821 HGNC
Ensembl
ENSG00000123136 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely pathogenic 0 2
Benign 0 2
Uncertain significance 0 28
Ranking
ClinVar
0
0
0
32
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 :
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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 BAT1
SYNONYM BAT1L
SYNONYM DDX39
SYNONYM DDXL
SYNONYM URH49
MIM 619906 OMIM
HGNC HGNC:17821 HGNC
Ensembl ENSG00000123136 Ensembl
AllianceGenome HGNC:17821
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000454233.6 hg38 chr19 14,409,910 14,419,383 9,474
ENST00000242776.9 hg38 chr19 14,408,798 14,419,341 10,544
ENST00000242776.9 hg19 chr19 14,519,610 14,530,153 10,544
ENST00000454233.6 hg19 chr19 14,520,722 14,530,195 9,474
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