Case#: IG1, Italy

DiseaseAssertion: Hemophilia A, severe (Table 1)

FamilyInfo: Table 1 - female relative(s) tested

ParentalTesting: No

CasePresentingHPOs: HP:0003125

(Reduced factor VIII activity)

CaseHPOFreeText: FVIII:C <1%

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: Entire FVIII coding region, flanking splicing sites and promoter sequence were amplified. Mutational analyses included DHPLC followed by sequencing.

Gene: F8

Variant: NM_000132.3:c.98G>A p.(Trp33Ter)

LegacyVariant: c.207G>A p.(Trp14Ter) [based on Antonarakis, 1998; PMID: 9450896]

ClinVar: No

CAID: CA414920533

gnomAD: Not reported