EPOR erythropoietin receptor

Information
Symbol
EPOR
Type
protein-coding
Description
erythropoietin receptor
Entrez Gene ID
2057
Genome
hg19
Position
chr19:11,487,883-11,494,990
Genome
hg38
Position
chr19:11,377,207-11,384,314
MIM
133171 OMIM
HGNC
HGNC:3416 HGNC
Ensembl
ENSG00000187266 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely pathogenic 0 6
Benign 4 62
Likely benign 0 42
Affects 0 10
Uncertain significance 0 98
Ranking
ClinVar
0
0
32
164
10
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 EPO-R
MIM 133171 OMIM
HGNC HGNC:3416 HGNC
Ensembl ENSG00000187266 Ensembl
AllianceGenome HGNC:3416
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000592375.6 hg38 chr19 11,377,625 11,384,312 6,688
ENST00000222139.11 hg38 chr19 11,377,207 11,384,314 7,108
ENST00000222139.11 hg19 chr19 11,487,883 11,494,990 7,108
ENST00000592375.6 hg19 chr19 11,488,301 11,494,988 6,688
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