EBP EBP cholestenol delta-isomerase

Information
Symbol
EBP
Type
protein-coding
Description
EBP cholestenol delta-isomerase
Entrez Gene ID
10682
Genome
hg19
Position
chrX:48,380,196-48,387,104
Genome
hg38
Position
chrX:48,521,808-48,528,716
MIM
300205 OMIM
HGNC
HGNC:3133 HGNC
Ensembl
ENSG00000147155 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 90
Likely pathogenic 0 52
Benign 0 44
Likely benign 0 80
Conflicting classifications of pathogenicity 0 16
not provided 6 0
Uncertain significance 0 78
Ranking
ClinVar
0
0
44
248
26
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 CDPX2
SYNONYM CHO2
SYNONYM CPX
SYNONYM CPXD
SYNONYM MEND
MIM 300205 OMIM
HGNC HGNC:3133 HGNC
Ensembl ENSG00000147155 Ensembl
AllianceGenome HGNC:3133
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000495186.6 hg38 chrX 48,521,808 48,528,716 6,909
ENST00000495186.6 hg19 chrX 48,380,196 48,387,104 6,909
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