COQ8B coenzyme Q8B

Information
Symbol
COQ8B
Type
protein-coding
Description
coenzyme Q8B
Entrez Gene ID
79934
Genome
hg19
Position
chr19:41,197,419-41,221,521
Genome
hg38
Position
chr19:40,691,514-40,715,616
MIM
615567 OMIM
HGNC
HGNC:19041 HGNC
Ensembl
ENSG00000123815 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 32
Likely pathogenic 0 18
Benign 0 72
Likely benign 0 232
Conflicting classifications of pathogenicity 0 24
not provided 0 4
Uncertain significance 0 142
Ranking
ClinVar
0
0
100
346
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
[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 ADCK4
SYNONYM NPHS9
MIM 615567 OMIM
HGNC HGNC:19041 HGNC
Ensembl ENSG00000123815 Ensembl
AllianceGenome HGNC:19041
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000678467.1 hg38 chr19 40,691,514 40,714,749 23,236
ENST00000679130.1 hg38 chr19 40,691,514 40,715,852 24,339
ENST00000601967.6 hg38 chr19 40,691,514 40,715,098 23,585
ENST00000677496.1 hg38 chr19 40,691,514 40,716,920 25,407
ENST00000677018.1 hg38 chr19 40,691,514 40,716,882 25,369
ENST00000594720.6 hg38 chr19 40,691,514 40,716,896 25,383
ENST00000678419.1 hg38 chr19 40,691,514 40,714,990 23,477
ENST00000243583.10 hg38 chr19 40,691,530 40,715,073 23,544
ENST00000324464.8 hg38 chr19 40,691,530 40,716,886 25,357
ENST00000594490.6 hg38 chr19 40,691,514 40,714,938 23,425
ENST00000678404.1 hg38 chr19 40,691,514 40,715,616 24,103
ENST00000677517.1 hg38 chr19 40,691,514 40,715,111 23,598
ENST00000679012.1 hg38 chr19 40,691,514 40,715,852 24,339
ENST00000594490.6 hg19 chr19 41,197,419 41,220,843 23,425
ENST00000243583.10 hg19 chr19 41,197,435 41,220,978 23,544
ENST00000324464.8 hg19 chr19 41,197,435 41,222,791 25,357
ENST00000601967.6 hg19 chr19 41,197,419 41,221,003 23,585
ENST00000677496.1 hg19 chr19 41,197,419 41,222,825 25,407
ENST00000677517.1 hg19 chr19 41,197,419 41,221,016 23,598
ENST00000594720.6 hg19 chr19 41,197,419 41,222,801 25,383
ENST00000677018.1 hg19 chr19 41,197,419 41,222,787 25,369
ENST00000678404.1 hg19 chr19 41,197,419 41,221,521 24,103
ENST00000678419.1 hg19 chr19 41,197,419 41,220,895 23,477
ENST00000678467.1 hg19 chr19 41,197,419 41,220,654 23,236
ENST00000679012.1 hg19 chr19 41,197,419 41,221,757 24,339
ENST00000679130.1 hg19 chr19 41,197,419 41,221,757 24,339
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