DUOXA2 dual oxidase maturation factor 2

Information
Symbol
DUOXA2
Type
protein-coding
Description
dual oxidase maturation factor 2
Entrez Gene ID
405753
Genome
hg19
Position
chr15:45,406,524-45,410,619
Genome
hg38
Position
chr15:45,114,326-45,118,421
MIM
612772 OMIM
HGNC
HGNC:32698 HGNC
Ensembl
ENSG00000140274 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 6 18
Likely pathogenic 0 8
Benign 0 44
Likely benign 0 18
Conflicting classifications of pathogenicity 0 8
Uncertain significance 0 46
Ranking
ClinVar
0
0
16
108
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
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 SIMNIPHOM
SYNONYM TDH5
MIM 612772 OMIM
HGNC HGNC:32698 HGNC
Ensembl ENSG00000140274 Ensembl
AllianceGenome HGNC:32698
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000323030.6 hg38 chr15 45,114,326 45,118,421 4,096
ENST00000323030.6 hg19 chr15 45,406,524 45,410,619 4,096
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