Variant (rsID / SNP)

rs387906452

rs387906452 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: Deletion
Cytoband: Xq28
HGVS: NM_000132.4(F8):c.4121_4124del (p.Ile1374fs)

Associated conditions / phenotypes

Hereditary factor VIII 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.