EPO erythropoietin

Information
Symbol
EPO
Type
protein-coding
Description
erythropoietin
Entrez Gene ID
2056
Genome
hg19
Position
chr7:100,318,091-100,321,323
Genome
hg38
Position
chr7:100,720,468-100,723,700
MIM
133170 OMIM
HGNC
HGNC:3415 HGNC
Ensembl
ENSG00000130427 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 6
Benign 0 20
Likely benign 0 28
Uncertain significance 0 28
Ranking
ClinVar
0
0
6
66
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
[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 :
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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 :
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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 DBAL
SYNONYM ECYT5
SYNONYM EP
SYNONYM MVCD2
MIM 133170 OMIM
HGNC HGNC:3415 HGNC
Ensembl ENSG00000130427 Ensembl
AllianceGenome HGNC:3415
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000252723.3 hg38 chr7 100,720,468 100,723,700 3,233
ENST00000252723.3 hg19 chr7 100,318,091 100,321,323 3,233
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