COA5 cytochrome c oxidase assembly factor 5

Information
Symbol
COA5
Type
protein-coding
Description
cytochrome c oxidase assembly factor 5
Entrez Gene ID
493753
Genome
hg19
Position
chr2:99,215,777-99,224,975
Genome
hg38
Position
chr2:98,599,314-98,608,512
MIM
613920 OMIM
HGNC
HGNC:33848 HGNC
Ensembl
ENSG00000183513 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Benign 0 8
Likely benign 0 26
Conflicting classifications of pathogenicity 0 2
Uncertain significance 0 8
Ranking
ClinVar
0
0
2
40
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 :
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 6330578E17Rik
SYNONYM C2orf64
SYNONYM CEMCOX3
SYNONYM MC4DN9
SYNONYM Pet191
MIM 613920 OMIM
HGNC HGNC:33848 HGNC
Ensembl ENSG00000183513 Ensembl
AllianceGenome HGNC:33848
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000328709.8 hg38 chr2 98,599,314 98,608,512 9,199
ENST00000409997.1 hg38 chr2 98,602,382 98,608,515 6,134
ENST00000328709.8 hg19 chr2 99,215,777 99,224,975 9,199
ENST00000409997.1 hg19 chr2 99,218,845 99,224,978 6,134
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