Variant (rsID / SNP)

rs387906478

rs387906478 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to F9. Clinical significance in the table: Pathogenic.

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Reference-table entries

F9Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xq27.1
HGVS: NM_000133.4(F9):c.697G>A (p.Ala233Thr)
Allele change: Missense_A195T

Associated conditions / phenotypes

Hereditary factor IX deficiency disease

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.