Gene entry
EPOR
erythropoietin receptor
- Chromosome
- 19
- Cytoband
- 19p13.2
- Variants (rsID)
- 4
EPOR is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 19 (region 19p13.2). Its official name is “erythropoietin receptor”. The reference table lists 4 variants (rsID) for this gene.
Clinically classified variants
2 reference-table entries with clinical significance.
- rs142094773Benignsingle nucleotide variantPrimary familial polycythemia due to EPO receptor mutation|Intellectual disability-hypotonic facies syndrome, X-linked, 1
- rs62638744Benignsingle nucleotide variantPrimary familial polycythemia due to EPO receptor mutation
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.