Variant (rsID / SNP)

rs142094773

rs142094773 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EPOR. Location: chromosome 19, position 11,488,725. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

EPORBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 19:11488725
Cytoband: 19p13.2
HGVS: NM_000121.4(EPOR):c.1462C>T (p.Pro488Ser)
Allele change: Missense_P488S

Associated conditions / phenotypes

Primary familial polycythemia due to EPO receptor mutation|Intellectual disability-hypotonic facies syndrome, X-linked, 1

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.