COX20 cytochrome c oxidase assembly factor COX20

Information
Symbol
COX20
Type
protein-coding
Description
cytochrome c oxidase assembly factor COX20
Entrez Gene ID
116228
Genome
hg19
Position
chr1:244,998,918-245,006,554
Genome
hg38
Position
chr1:244,835,616-244,843,252
MIM
614698 OMIM
HGNC
HGNC:26970 HGNC
Ensembl
ENSG00000203667 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 14
Likely pathogenic 0 6
Benign 0 28
Likely benign 0 88
Conflicting classifications of pathogenicity 0 12
not provided 1 0
Uncertain significance 0 78
Ranking
ClinVar
0
0
44
154
12
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 FAM36A
SYNONYM MC4DN11
MIM 614698 OMIM
HGNC HGNC:26970 HGNC
Ensembl ENSG00000203667 Ensembl
AllianceGenome HGNC:26970
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000411948.7 hg38 chr1 244,835,658 244,845,057 9,400
ENST00000366528.3 hg38 chr1 244,835,616 244,843,252 7,637
ENST00000366528.3 hg19 chr1 244,998,918 245,006,554 7,637
ENST00000411948.7 hg19 chr1 244,998,960 245,008,359 9,400
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