Variant (rsID / SNP)

rs757996262

rs757996262 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to F9. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

F9Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Cytoband: Xq27.1
HGVS: NM_000133.4(F9):c.1345C>T (p.Arg449Trp)
Allele change: Missense_R411W

Associated conditions / phenotypes

Hereditary factor VIII 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.