9 Matching Annotations
  1. Oct 2026
  2. illiad.lib.unc.edu illiad.lib.unc.edu
    Spectrum of F9 mutations in Chinese haemophilia B patients: identification of 20 novel mutations
    1
    1. ClingenBaseline 25 Oct 2026
      c.128G>A

      Case#: Variant #24 (no specific case; 5 patients and 5 families have variant)

      DiseaseAssertion: Severe (2), Moderate (1), Mild (2)

      FamilyInfo: N/A

      ParentalTesting: None

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: reduced factor IX activity

      CaseNotHPOs: None

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.128G>A (p.Arg43Gln)

      ClinVar: Absent/Not Reported

      CAID: CA414435539

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense CAID:CA414435539 ParentalTest:Unknown Zygosity:NoZygosityAssertion FIXTesting:None DiseaseSeverity:Mild DiseaseSeverity:Moderate DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    illiad.lib.unc.edu/NOH/illiad.dll
  3. 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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    ncbi.nlm.nih.gov/pmc/articles/PMC1683181/pdf/ajhg00081-0147.pdf
  4. onlinelibrary.wiley.com onlinelibrary.wiley.com
    j.1365-2141.1997.2213036.x.pdf
    1
    1. ClingenBaseline 25 Oct 2026
      Ala-10 residue (Ala[GCC) to Val[GCT]

      Case#: Oldenburg_Patient_A and Oldenburg_Patient_C

      DiseaseAssertion: Mild Hemophilia B (exacerbated due to phenprocoumon administration)

      FamilyInfo: The parents of patients A and C emigrated from the same region in North-Eastern Europe (North Poland)

      ParentalTesting: N/A

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: reduced factor IX activity, severe bleeding at each oral anticoagulation with phenprocoumon occurrence, bleeding in muscles of the upper leg

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.110C>T (p.Ala37Val)

      ClinVar: Absent

      CAID: CA414435437

      gnomAD: Allele Frequency in European (non-Finnish) population: 0.00002186

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414435437 FIXTesting:Partial ParentalTest:Unknown DiseaseSeverity:Mild inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    onlinelibrary.wiley.com/doi/pdfdirect/10.1046/j.1365-2141.1997.2213036.x
  5. 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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    ncbi.nlm.nih.gov/pmc/articles/PMC6485758/
  6. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Missense mutations at ALA-10 in the factor IX propeptide: an insignificant variant in normal life but a decisive cause of bleeding during oral anticoagulant therapy
    1
    1. ClingenBaseline 24 Oct 2026

      Case#: Oldenburg Cases A, B and C (A: 66 y/o, B: 38 y/o, C: 30 y/o (all in Germany))

      DiseaseAssertion: Mild Hemophilia B

      FamilyInfo: No bleeding tendency noted in any of these patients family history

      ParentalTesting: N/A

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: severe bleeding at each occasion of oral anticoagulation with phenoprocoumon, bleeding was located in the muscles of the upper leg (patients A and C) and scrotum, left calf and thigh musles (patient B), reduced factor IX levels

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.109G>A (p.Ala37Thr)

      LegacyVariant: p.Ala-10Thr

      ClinVar: 804089

      CAID: CA10529736

      gnomAD: Allele Frequency in population where variant was found in the highest (South Asian population): 0.0001128

      AdditionalCaseInfo: all patients were unrelated up to the third generation. However, the parents of patients A and C emigrated from the same region in North-Eastern Europe (North Poland)

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA10529736 FIXTesting:Partial ParentalTest:Unknown DiseaseSeverity:Mild 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/10.1046/j.1365-2141.1997.2213036.x
  7. illiad.lib.unc.edu illiad.lib.unc.edu
    Secretion of wild&#x02010;type factor IX upon readthrough over <i>F9</i> pre&#x02010;peptide nonsense mutations causing hemophilia B
    1
    1. ClingenBaseline 22 Oct 2026
      .Gly21Val)

      Case#: N/A

      DiseaseAssertion: Mild Hemophilia B

      FamilyInfo: None

      ParentalTesting: N/A

      CasePresentingHPOs: HP:0001929

      CasePresentingHPOsFreeText: reduced factor IX activity

      CaseNotHPOs: None

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.62G>T (p.Gly21Val)

      ClinVar: Absent

      CAID: CA414434385

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414434385 ParentalTest:Unknown DiseaseSeverity:Mild inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    illiad.lib.unc.edu/NOH/illiad.dll
  8. 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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    haematologica.org/article/view/3523
  9. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Compensated pathogenic variants in coagulation factors VIII and IX present complex mapping between molecular impact and hemophilia severity
    1
    1. ClingenBaseline 22 Oct 2026
      The final list of mutations is provided in Supplementary Table S1.

      Case#: N/A

      DiseaseAssertion: Mild Hemophilia B

      FamilyInfo: N/A

      ParentalTesting: N/A

      CasePresentingHPOs: N/A

      CaseHPOsFreeText: N/A

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.62G>T ((p.Gly21Val)

      ClinVar: Absent

      CAID: CA414434385

      gnomAD: Absent/NotReported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense CAID:CA414434385 DiseaseSeverity:Mild inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC6606640/
  10. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Identification of twenty‐one new mutations in the factor IX gene by SSCP analysis
    1
    1. ClingenBaseline 21 Oct 2026

      Case#: Patient 66 (Spanish origin; assumed male)

      DiseaseAssertion: Mild Hemophilia B

      FamilyInfo: Not available

      ParentalTesting: Not available

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: Factor IX: C = 30% (reduced factor IX activity)

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4(F9):c.19A>T (p.Ile7Phe)

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

      ClinVar: 367997

      CAID: CA10529708

      gnomAD: Filtering AF: 0.0007752 (no homozygotes)

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense CAID:CA10529708 FIXTesting:Partial ParentalTest:Unknown DiseaseSeverity:Mild 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/(SICI)1098-1004(1999)13:2<160::AID-HUMU9>3.0.CO