Variant (rsID / SNP)

rs137852428

rs137852428 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to F8. Clinical significance in the table: Pathogenic.

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Reference-table entries

F8Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xq28
HGVS: NM_000132.4(F8):c.1834C>T (p.Arg612Cys)
Allele change: Missense_R612C

Associated conditions / phenotypes

Hereditary factor VIII deficiency disease|Hereditary factor IX deficiency disease|Thrombophilia 13, X-linked, due to factor VIII 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.