COA3 cytochrome c oxidase assembly factor 3

Information
Symbol
COA3
Type
protein-coding
Description
cytochrome c oxidase assembly factor 3
Entrez Gene ID
28958
Genome
hg19
Position
chr17:40,949,643-40,950,722
Genome
hg38
Position
chr17:42,797,625-42,798,704
MIM
614775 OMIM
HGNC
HGNC:24990 HGNC
Ensembl
ENSG00000183978 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 4
Likely benign 0 12
Uncertain significance 0 34
Ranking
ClinVar
0
0
8
38
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
[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 CCDC56
SYNONYM COX25
SYNONYM HSPC009
SYNONYM MC4DN14
SYNONYM MITRAC12
SYNONYM hCOA3
MIM 614775 OMIM
HGNC HGNC:24990 HGNC
Ensembl ENSG00000183978 Ensembl
AllianceGenome HGNC:24990
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000328434.8 hg38 chr17 42,797,625 42,798,704 1,080
ENST00000328434.8 hg19 chr17 40,949,643 40,950,722 1,080
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