Variant (rsID / SNP)

rs62638744

rs62638744 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EPOR. Location: chromosome 19, position 11,488,877. Clinical significance in the table: Benign.

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Reference-table entries

EPORBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 19:11488877
Cytoband: 19p13.2
HGVS: NM_000121.4(EPOR):c.1310G>A (p.Arg437His)
Allele change: Missense_R437H

Associated conditions / phenotypes

Primary familial polycythemia due to EPO receptor mutation

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.