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    1. ClingenBaseline 23 Oct 2026

      Case#: Calgary 4

      DiseaseAssertion: Hemophilia B

      FamilyInfo: 9 carrier females, 3 affected males, 1 female obligate carrier

      ParentalTesting: N/A

      CasePresentingHPOs: HP:0001929

      CaseHPOsFreeText: reduced factor IX activity

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      Gene: F9

      Variant: c.19A>T (p.Ile7Phe)

      LegacyVariant: c.48A>T (p.Ile-40Phe)

      ClinVar: Absent

      CAID: CA10529708

      gnomAD: Filtering AF: 0.0007752 (no homozygotes)

      Variant: NM_000133.3:c.1150C>T (p.Arg384Ter)

      LegacyVariant: c.31133C>T (p.Arg338Ter)

      ClinVar: Absent

      CAID: CA255399

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense CAID:CA10529708 Mutation:Nonsense CAID:CA255399 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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