CCS copper chaperone for superoxide dismutase

Information
Symbol
CCS
Type
protein-coding
Description
copper chaperone for superoxide dismutase
Entrez Gene ID
9973
Genome
hg19
Position
chr11:66,360,656-66,373,490
Genome
hg38
Position
chr11:66,593,185-66,606,019
MIM
603864 OMIM
HGNC
HGNC:1613 HGNC
Ensembl
ENSG00000173992 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Likely benign 0 2
Uncertain significance 0 42
Ranking
ClinVar
0
0
0
44
2
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 :
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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
MIM 603864 OMIM
HGNC HGNC:1613 HGNC
Ensembl ENSG00000173992 Ensembl
AllianceGenome HGNC:1613
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000310190.8 hg38 chr11 66,593,241 66,605,919 12,679
ENST00000533244.6 hg38 chr11 66,593,185 66,606,019 12,835
ENST00000533244.6 hg19 chr11 66,360,656 66,373,490 12,835
ENST00000310190.8 hg19 chr11 66,360,712 66,373,390 12,679
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