COQ4 coenzyme Q4

Information
Symbol
COQ4
Type
protein-coding
Description
coenzyme Q4
Entrez Gene ID
51117
Genome
hg19
Position
chr9:131,085,118-131,096,351
Genome
hg38
Position
chr9:128,322,839-128,334,072
MIM
612898 OMIM
HGNC
HGNC:19693 HGNC
Ensembl
ENSG00000167113 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 12 52
Likely pathogenic 2 28
Benign 0 36
Likely benign 0 250
Conflicting classifications of pathogenicity 0 22
Uncertain significance 0 184
Ranking
ClinVar
0
0
90
428
16
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 CGI-92
SYNONYM COQ10D7
SYNONYM SPAX10
MIM 612898 OMIM
HGNC HGNC:19693 HGNC
Ensembl ENSG00000167113 Ensembl
AllianceGenome HGNC:19693
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000372875.3 hg38 chr9 128,322,852 128,326,400 3,549
ENST00000300452.8 hg38 chr9 128,322,839 128,334,072 11,234
ENST00000608951.5 hg38 chr9 128,322,582 128,323,584 1,003
ENST00000609948.1 hg38 chr9 128,322,544 128,323,586 1,043
ENST00000609948.1 hg19 chr9 131,084,823 131,085,865 1,043
ENST00000608951.5 hg19 chr9 131,084,861 131,085,863 1,003
ENST00000300452.8 hg19 chr9 131,085,118 131,096,351 11,234
ENST00000372875.3 hg19 chr9 131,085,131 131,088,679 3,549
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