Variant (rsID / SNP)

rs1800294

rs1800294 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to F8. Clinical significance in the table: Uncertain significance.

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Reference-table entries

F8Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Cytoband: Xq28
HGVS: NM_000132.4(F8):c.4442T>C (p.Leu1481Pro)
Allele change: Missense_L1481P

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.