Primary Familial Polycythemia Due To EPO Receptor Mutation(Erythrocytosis)
An Autosomal dominant mode(s) within the Blood disorders category
Candidate Gene Information
An Autosomal dominant mode(s) within the Blood disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | EPOR/2057 | erythropoietin receptor | 19p13.2 | Chr19, NC_000019.10 (11377207..11384314, complement) |
7108 nt | 8 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | SH2B3/10019 | SH2B adaptor protein 3 | 12q24.12 | Chr12, NC_000012.12 (111404730..111451623) |
46894 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |