SC5D sterol-C5-desaturase

Information
Symbol
SC5D
Type
protein-coding
Description
sterol-C5-desaturase
Entrez Gene ID
6309
Genome
hg19
Position
chr11:121,163,480-121,184,119
Genome
hg38
Position
chr11:121,292,771-121,313,410
MIM
602286 OMIM
HGNC
HGNC:10547 HGNC
Ensembl
ENSG00000109929 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 10
Benign 0 56
Likely benign 0 72
Conflicting classifications of pathogenicity 0 10
Uncertain significance 0 264
Ranking
ClinVar
0
0
22
358
18
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
SYNONYM ERG3
SYNONYM S5DES
SYNONYM SC5DL
MIM 602286 OMIM
HGNC HGNC:10547 HGNC
Ensembl ENSG00000109929 Ensembl
AllianceGenome HGNC:10547
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000264027.9 hg38 chr11 121,292,771 121,313,410 20,640
ENST00000534230.5 hg38 chr11 121,292,771 121,308,630 15,860
ENST00000392789.2 hg38 chr11 121,292,852 121,308,633 15,782
ENST00000534230.5 hg19 chr11 121,163,480 121,179,339 15,860
ENST00000264027.9 hg19 chr11 121,163,480 121,184,119 20,640
ENST00000392789.2 hg19 chr11 121,163,561 121,179,342 15,782
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