COX18 cytochrome c oxidase assembly factor COX18

Information
Symbol
COX18
Type
protein-coding
Description
cytochrome c oxidase assembly factor COX18
Entrez Gene ID
285521
Genome
hg19
Position
chr4:73,918,079-73,935,433
Genome
hg38
Position
chr4:73,052,362-73,069,716
MIM
610428 OMIM
HGNC
HGNC:26801 HGNC
Ensembl
ENSG00000163626 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Uncertain significance 0 36
Ranking
ClinVar
0
0
0
38
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
[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 COX18HS
SYNONYM OXA1L2
MIM 610428 OMIM
HGNC HGNC:26801 HGNC
Ensembl ENSG00000163626 Ensembl
AllianceGenome HGNC:26801
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000507544.3 hg38 chr4 73,052,362 73,069,716 17,355
ENST00000295890.8 hg38 chr4 73,052,362 73,069,741 17,380
ENST00000507544.3 hg19 chr4 73,918,079 73,935,433 17,355
ENST00000295890.8 hg19 chr4 73,918,079 73,935,458 17,380
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