Variant (rsID / SNP)

rs137852227

rs137852227 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to F9. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

F9Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xq27.1
HGVS: NM_000133.4(F9):c.223C>T (p.Arg75Ter)
Allele change: Nonsense_R75X

Associated conditions / phenotypes

Hereditary factor IX deficiency disease|Hereditary factor IX deficiency disease|Thrombophilia, X-linked, due to factor 9 defect

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.