UQCRFS1 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1

Information
Symbol
UQCRFS1
Type
protein-coding
Description
ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1
Entrez Gene ID
7386
Genome
hg19
Position
chr19:29,696,227-29,704,058
Genome
hg38
Position
chr19:29,205,320-29,213,151
MIM
191327 OMIM
HGNC
HGNC:12587 HGNC
Ensembl
ENSG00000169021 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 6
Benign 0 6
Likely benign 0 8
Uncertain significance 0 14
Ranking
ClinVar
0
0
0
34
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
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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 MC3DN10
SYNONYM RIP1
SYNONYM RIS1
SYNONYM RISP
SYNONYM UQCR5
MIM 191327 OMIM
HGNC HGNC:12587 HGNC
Ensembl ENSG00000169021 Ensembl
AllianceGenome HGNC:12587
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000304863.6 hg38 chr19 29,205,320 29,213,151 7,832
ENST00000304863.6 hg19 chr19 29,696,227 29,704,058 7,832
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