COX5A cytochrome c oxidase subunit 5A

Information
Symbol
COX5A
Type
protein-coding
Description
cytochrome c oxidase subunit 5A
Entrez Gene ID
9377
Genome
hg19
Position
chr15:75,212,132-75,230,414
Genome
hg38
Position
chr15:74,919,791-74,938,073
MIM
603773 OMIM
HGNC
HGNC:2267 HGNC
Ensembl
ENSG00000178741 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 4
Likely benign 0 8
not provided 2 0
Uncertain significance 0 26
Ranking
ClinVar
0
0
2
32
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 COX
SYNONYM COX-VA
SYNONYM MC4DN20
SYNONYM VA
MIM 603773 OMIM
HGNC HGNC:2267 HGNC
Ensembl ENSG00000178741 Ensembl
AllianceGenome HGNC:2267
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000564811.1 hg38 chr15 74,923,594 74,938,066 14,473
ENST00000568783.5 hg38 chr15 74,920,280 74,938,083 17,804
ENST00000567270.5 hg38 chr15 74,920,275 74,938,080 17,806
ENST00000322347.11 hg38 chr15 74,919,791 74,938,073 18,283
ENST00000568517.1 hg38 chr15 74,920,312 74,937,776 17,465
ENST00000562233.5 hg38 chr15 74,920,275 74,938,070 17,796
ENST00000322347.11 hg19 chr15 75,212,132 75,230,414 18,283
ENST00000562233.5 hg19 chr15 75,212,616 75,230,411 17,796
ENST00000567270.5 hg19 chr15 75,212,616 75,230,421 17,806
ENST00000568783.5 hg19 chr15 75,212,621 75,230,424 17,804
ENST00000568517.1 hg19 chr15 75,212,653 75,230,117 17,465
ENST00000564811.1 hg19 chr15 75,215,935 75,230,407 14,473
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