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  2. haematologica.org haematologica.org
    Molecular genotyping of the Italian cohort of patients with hemophilia B
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    1. ClingenBaseline 23 Oct 2026
      mutation

      Case#: Belvini_Proband_16 (Italian)

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: N/A

      ParentalTesting: N/A

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: reduced factor IX activity

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

      Variant:NM_000133.4:c.135G>C (p.Lys45Asn)

      ClinVar: Absent

      CAID: CA414435574

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense CAID:CA414435574 ParentalTest:Unknown FIXTesting:None DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    haematologica.org/article/view/3523