HCCS holocytochrome c synthase

Information
Symbol
HCCS
Type
protein-coding
Description
holocytochrome c synthase
Entrez Gene ID
3052
Genome
hg19
Position
chrX:11,129,452-11,141,206
Genome
hg38
Position
chrX:11,111,332-11,123,086
MIM
300056 OMIM
HGNC
HGNC:4837 HGNC
Ensembl
ENSG00000004961 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 4
Likely pathogenic 0 6
Benign 0 32
Likely benign 0 42
Conflicting classifications of pathogenicity 0 8
not provided 7 4
Uncertain significance 0 38
Ranking
ClinVar
0
0
12
94
6
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 CCHL
SYNONYM LSDMCA1
SYNONYM MCOPS7
SYNONYM MLS
MIM 300056 OMIM
HGNC HGNC:4837 HGNC
Ensembl ENSG00000004961 Ensembl
AllianceGenome HGNC:4837
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000321143.8 hg38 chrX 11,111,301 11,123,078 11,778
ENST00000380762.5 hg38 chrX 11,111,332 11,123,086 11,755
ENST00000380763.7 hg38 chrX 11,111,342 11,121,879 10,538
ENST00000321143.8 hg19 chrX 11,129,421 11,141,198 11,778
ENST00000380762.5 hg19 chrX 11,129,452 11,141,206 11,755
ENST00000380763.7 hg19 chrX 11,129,462 11,139,999 10,538
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