Variant (rsID / SNP)

rs782198570

rs782198570 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to F8. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

F8Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Cytoband: Xq28
HGVS: NM_000132.4(F8):c.6623A>G (p.Gln2208Arg)
Allele change: Missense_Q73R

Associated conditions / phenotypes

Hereditary factor VIII deficiency disease|See cases

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.