SCO1 synthesis of cytochrome C oxidase 1

Information
Symbol
SCO1
Type
protein-coding
Description
synthesis of cytochrome C oxidase 1
Entrez Gene ID
6341
Genome
hg19
Position
chr17:10,575,791-10,600,850
Genome
hg38
Position
chr17:10,672,474-10,697,533
MIM
603644 OMIM
HGNC
HGNC:10603 HGNC
Ensembl
ENSG00000133028 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 10
Likely pathogenic 0 8
Benign 0 67
Likely benign 0 116
Conflicting classifications of pathogenicity 0 18
not provided 0 2
Uncertain significance 0 186
Ranking
ClinVar
0
0
69
292
8
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 MC4DN4
SYNONYM SCOD1
MIM 603644 OMIM
HGNC HGNC:10603 HGNC
Ensembl ENSG00000133028 Ensembl
AllianceGenome HGNC:10603
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000577427.1 hg38 chr17 10,680,354 10,697,530 17,177
ENST00000255390.10 hg38 chr17 10,672,474 10,697,533 25,060
ENST00000255390.10 hg19 chr17 10,575,791 10,600,850 25,060
ENST00000577427.1 hg19 chr17 10,583,671 10,600,847 17,177
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