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  2. pdf.sciencedirectassets.com pdf.sciencedirectassets.com
    A recoded view on the F9 p.Cys178Ter pathogenic mechanism
    1
    1. ClingenBaseline 23 Oct 2026
      p.Cys28Gly

      Case#: N/A

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: Not provided

      ParentalTesting: Not provided

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: reduced factor IX activity

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.82T>G (p.Cys28Gly)

      ClinVar: Absent

      CAID: CA414434482

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414434482 ParentalTest:Unknown 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-S0049384820X00028/1-s2.0-S0049384820300256/main.pdf
  3. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    The human factor IX gene as germline mutagen test: Samples from mainland China have the putatively endogenous pattern of mutation
    1
    1. ClingenBaseline 23 Oct 2026

      Case#: Liu_Proband_316 (assumed male; Chinese)

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: N/A

      ParentalTesting: N/A

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: reduced factor IX activity

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.82T>G (p.Cys28Gly)

      ClinVar: Absent

      CAID: CA414434482

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense CAID:CA414434482 FIXTesting:None ParentalTest:Unknown 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/pdf/10.1002/1098-1004(200007)16:1<31::AID-HUMU6>3.0.CO