COQ5 coenzyme Q5, methyltransferase

Information
Symbol
COQ5
Type
protein-coding
Description
coenzyme Q5, methyltransferase
Entrez Gene ID
84274
Genome
hg19
Position
chr12:120,941,082-120,966,961
Genome
hg38
Position
chr12:120,503,279-120,529,158
MIM
616359 OMIM
HGNC
HGNC:28722 HGNC
Ensembl
ENSG00000110871 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 6
Likely benign 0 22
Conflicting classifications of pathogenicity 0 2
Uncertain significance 0 34
Ranking
ClinVar
0
0
4
58
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 :
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 COQ10D9
MIM 616359 OMIM
HGNC HGNC:28722 HGNC
Ensembl ENSG00000110871 Ensembl
AllianceGenome HGNC:28722
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000445328.6 hg38 chr12 120,503,574 120,529,161 25,588
ENST00000288532.11 hg38 chr12 120,503,279 120,529,158 25,880
ENST00000288532.11 hg19 chr12 120,941,082 120,966,961 25,880
ENST00000445328.6 hg19 chr12 120,941,377 120,966,964 25,588
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