7 Matching Annotations
  1. Oct 2026
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    ajhg00081-0147.pdf
    1
    1. ClingenBaseline 25 Oct 2026
      Cysteine 19--arginine (in patient HB13O) alters thesignal peptide. The factor IX activity (20%) in thepatient record suggests mild disease

      Case#: Family HB130

      DiseaseAssertion: Mild Hemophilia B

      FamilyInfo: N/A

      ParentalTesting: N/A

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: reduced factor IX activity (FIX:C : 20%)

      CaseNotHPOs: N/A

      CasePreviousTesting:

      Gene: F9

      Variant: NM_000133.4:c.82T>C (p.Cys28Arg)

      LegacyVariant: c.111T>C (p.Cys-19Arg)

      ClinVar: 10657

      CAID: CA255450

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA255450 FIXTesting:Partial ParentalTest:Unknown DiseaseSeverity:Mild inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC1683181/pdf/ajhg00081-0147.pdf
  3. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    F8 and F9 mutations in US haemophilia patients: correlation with history of inhibitor and race/ethnicity
    1
    1. ClingenBaseline 25 Oct 2026
      Table S3. F9 mutations.

      Case#: Miller_Proband 1 (male)

      DiseaseAssertion: Moderate 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.82T>C (p.Cys28Arg)

      ClinVar: 10657

      CAID: CA255450

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA255450 ParentalTest:Unknown DiseaseSeverity:Moderate inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    URL

    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/10.1111/j.1365-2516.2011.02700.x
  4. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Targeted re-sequencing of F8, F9 and VWF: Characterization of Ion Torrent data and clinical implications for mutation screening
    1
    1. ClingenBaseline 24 Oct 2026
      HB_132

      Case#: HB_132 (assumed male)

      DiseaseAssertion: Mild-Moderate Hemophilia B

      FamilyInfo: Not provided

      ParentalTesting: Not provided

      CasePresentingHPOs: N/A

      CasePresentingHPOsFreeText: Mild-Moderate Hemophilia B, Quality parameters given as read depth and strand bias for the mutated positions: 3098/0.51

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.82T>C (p.Cys28Arg)

      ClinVar: 10657

      CAID: CA255450

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA255450 FIXTesting:None ParentalTest:Unknown DiseaseSeverity:Mild-Moderate inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC6485758/
  5. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Mutation analysis of a cohort of US patients with hemophilia B
    1
    1. ClingenBaseline 24 Oct 2026
      Table S1

      Case#: Li_Proband_1 (male)

      DiseaseAssertion: Moderate Hemophilia B

      FamilyInfo: Not provided

      ParentalTesting: Not provided

      CasePresentingHPOs: N/A

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.82T>C (p.Cys28Arg)

      ClinVar: 10657

      CAID: CA255450

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA255450 ParentalTest:Unknown DiseaseSeverity:Moderate inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC4504203/
  6. www.actabp.pl www.actabp.pl
    untitled
    1
    1. ClingenBaseline 23 Oct 2026

      Case#: 043 (GB); Polish origin

      DiseaseAssertion: Moderate Hemophilia B

      FamilyInfo: Not provided

      ParentalTesting: Not provided

      CasePresentingHPOs: HP:0011858

      CasePresentingHPOsFreeText: FIX:C : 4; FIX:Ag : 4

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.82T>C (p.Cys28Arg)

      ClinVar: 10657

      CAID: CA255450

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA255450 FIXTesting:Full ParentalTest:Unknown DiseaseSeverity:Moderate inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    URL

    actabp.pl/pdf/3_1999/721.pdf
  7. haematologica.org haematologica.org
    Molecular genotyping of the Italian cohort of patients with hemophilia B
    1
    1. ClingenBaseline 22 Oct 2026
      identify the causative mutation

      Case#: Belvini_Proband_6 (Italian)

      DiseaseAssertion: Mild 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.82T>C (p.Cys28Arg)

      LegacyVariant: c.11T>C (p.Cys-19Arg )

      ClinVar: 10657

      CAID: CA255450

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense CAID:CA255450 ParentalTest:Unknown DiseaseSeverity:Mild FIXTesting:None inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    URL

    haematologica.org/article/view/3523
  8. pdf.sciencedirectassets.com pdf.sciencedirectassets.com
    A recoded view on the F9 p.Cys178Ter pathogenic mechanism
    1
    1. ClingenBaseline 22 Oct 2026
      p.Cys28Arg

      Case#: N/A

      DiseaseAssertion: Moderate/Mild 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>C (p.Cys28Arg)

      ClinVar: 10657

      CAID: CA255450

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA255450 ParentalTest:Unknown DiseaseSeverity:Moderate inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    URL

    pdf.sciencedirectassets.com/271043/1-s2.0-S0049384820X00028/1-s2.0-S0049384820300256/main.pdf