Case#: Riegelsberg (male)

DiseaseAssertion: Severe Hemophilia B

FamilyInfo: Mother carries only the G-to-A transition (age at conception: 30 y/o). Origin of variant cannot be proved, since maternal grandparents were deceased at time of report.

ParentalTesting: Mother carries only the G-to-A transition, father shows to not be affected (figure 1)

CasePresentingHPOs: HP:0011858

CaseHPOsFreeText: FIX Coagulant %: < 1, FIX Antigen %: < 1

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

Gene: F9

Variant: NM_000133.4:c.8G>A (p.Arg3His)

LegacyVariant: c.37G>A

ClinVar: 695909

CAID: CA10529706

gnomAD: Filtering AF: 0.0002304 (no homozygotes)