COX6A2 cytochrome c oxidase subunit 6A2

Information
Symbol
COX6A2
Type
protein-coding
Description
cytochrome c oxidase subunit 6A2
Entrez Gene ID
1339
Genome
hg19
Position
chr16:31,439,052-31,439,681
Genome
hg38
Position
chr16:31,427,731-31,428,360
MIM
602009 OMIM
HGNC
HGNC:2279 HGNC
Ensembl
ENSG00000156885 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 0
Likely pathogenic 0 4
Benign 0 4
Likely benign 0 4
Uncertain significance 0 16
Ranking
ClinVar
0
0
2
24
0
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 COX6AH
SYNONYM COXVIAH
SYNONYM COXVIa-M
SYNONYM MC4DN18
MIM 602009 OMIM
HGNC HGNC:2279 HGNC
Ensembl ENSG00000156885 Ensembl
AllianceGenome HGNC:2279
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000287490.5 hg38 chr16 31,427,731 31,428,360 630
ENST00000287490.5 hg19 chr16 31,439,052 31,439,681 630
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