CYBB cytochrome b-245 beta chain

Information
Symbol
CYBB
Type
protein-coding
Description
cytochrome b-245 beta chain
Entrez Gene ID
1536
Genome
hg19
Position
chrX:37,639,312-37,672,714
Genome
hg38
Position
chrX:37,780,059-37,813,461
MIM
300481 OMIM
HGNC
HGNC:2578 HGNC
Ensembl
ENSG00000165168 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 85 288
Likely pathogenic 6 76
Benign 0 120
Likely benign 0 582
Conflicting classifications of pathogenicity 0 20
not provided 6 66
Uncertain significance 2 220
Ranking
ClinVar
0
0
106
1,126
30
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 AMCBX2
SYNONYM CGD
SYNONYM CGDX
SYNONYM GP91-1
SYNONYM GP91-PHOX
SYNONYM GP91PHOX
SYNONYM IMD34
SYNONYM NOX2
SYNONYM p91-PHOX
MIM 300481 OMIM
HGNC HGNC:2578 HGNC
Ensembl ENSG00000165168 Ensembl
AllianceGenome HGNC:2578
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000378588.5 hg38 chrX 37,780,059 37,813,461 33,403
ENST00000696171.1 hg38 chrX 37,780,059 37,811,103 31,045
ENST00000696171.1 hg19 chrX 37,639,312 37,670,356 31,045
ENST00000378588.5 hg19 chrX 37,639,312 37,672,714 33,403
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