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  2. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Analysis of F9 point mutations and their correlation to severity of haemophilia B disease
    1
    1. ClingenBaseline 23 Oct 2026
      K45N

      Case#: N/A

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: None

      ParentalTesting: None

      CasePresentingHPOs: HP:0001929

      CaseHPOsFreeText: reduced factor IX activity

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

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

      ClinVar: Absent

      CAID: CA414435576

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414435576 ParentalTest:Unknown FIXTesting:None DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/10.1111/j.1365-2516.2012.02848.x
  3. pdf.sciencedirectassets.com pdf.sciencedirectassets.com
    PII: 0049-3848(92)90249-A
    1
    1. ClingenBaseline 23 Oct 2026
      (6372)

      Case#: Patient E (assumed male)

      DiseaseAssertion: Severe, Familial Hemophilia B

      FamilyInfo: Mothers were heterozygous, but patient E’s sister and aunt were non-carriers (homozygous for the cleavage)

      ParentalTesting: Mothers were heterozygous, but patient E’s sister and aunt were non-carriers (homozygous for the cleavage)

      CasePresentingHPOs: HP:0011858

      CasePresentingHPOsFreeText: reduced factor IX activity (FIX:C: <1; FIX:Ag:37/38)

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

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

      ClinVar: Absent/Not Reported

      CAID: CA414435576

      gnomAD: Absent/Not Reported

      Gene: F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414435576 ParentalTest:Unknown FIXTesting:Full DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    pdf.sciencedirectassets.com/271043/1-s2.0-S0049384800X04367/1-s2.0-004938489290249A/main.pdf