UQCC5 ubiquinol-cytochrome c reductase complex assembly factor 5

Information
Symbol
UQCC5
Type
protein-coding
Description
ubiquinol-cytochrome c reductase complex assembly factor 5
Entrez Gene ID
440957
Genome
hg19
Position
chr3:52,570,621-52,575,906
Genome
hg38
Position
chr3:52,536,605-52,541,890
MIM
620435 OMIM
HGNC
HGNC:37257 HGNC
Ensembl
ENSG00000168273 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 1 2
Benign 0 20
not provided 10 4
Uncertain significance 2 12
Ranking
ClinVar
0
0
0
30
4
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 C3orf78
SYNONYM SMIM4
MIM 620435 OMIM
HGNC HGNC:37257 HGNC
Ensembl ENSG00000168273 Ensembl
AllianceGenome HGNC:37257
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000476842.1 hg38 chr3 52,536,605 52,579,237 42,633
ENST00000477703.6 hg38 chr3 52,536,605 52,541,890 5,286
ENST00000307106.3 hg38 chr3 52,536,602 52,540,525 3,924
ENST00000307106.3 hg19 chr3 52,570,618 52,574,541 3,924
ENST00000477703.6 hg19 chr3 52,570,621 52,575,906 5,286
ENST00000476842.1 hg19 chr3 52,570,621 52,613,253 42,633
Genome browser