COX6B1 cytochrome c oxidase subunit 6B1

Information
Symbol
COX6B1
Type
protein-coding
Description
cytochrome c oxidase subunit 6B1
Entrez Gene ID
1340
Genome
hg19
Position
chr19:36,139,542-36,149,684
Genome
hg38
Position
chr19:35,648,640-35,658,782
MIM
124089 OMIM
HGNC
HGNC:2280 HGNC
Ensembl
ENSG00000126267 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Likely pathogenic 0 2
Benign 0 12
Likely benign 0 38
Conflicting classifications of pathogenicity 0 6
Uncertain significance 0 36
Ranking
ClinVar
0
0
22
64
2
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 :
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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 COX6B
SYNONYM COXG
SYNONYM COXVIb1
SYNONYM MC4DN7
MIM 124089 OMIM
HGNC HGNC:2280 HGNC
Ensembl ENSG00000126267 Ensembl
AllianceGenome HGNC:2280
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000649813.2 hg38 chr19 35,648,323 35,658,782 10,460
ENST00000392201.1 hg38 chr19 35,648,825 35,658,726 9,902
ENST00000592141.6 hg38 chr19 35,648,640 35,658,782 10,143
ENST00000649813.2 hg19 chr19 36,139,225 36,149,684 10,460
ENST00000592141.6 hg19 chr19 36,139,542 36,149,684 10,143
ENST00000392201.1 hg19 chr19 36,139,727 36,149,628 9,902
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