9 Matching Annotations
  1. Oct 2026
  2. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Comprehensive analysis of phenotypes and genetics in 21 Chinese families with haemophilia B: characterization of five novel mutations
    3
    1. ClingenBaseline 24 Oct 2026
      c.59T>C p.Leu20Ser

      Case#: Guo_Proband_2 (assumed male; Chinese)

      DiseaseAssertion: Moderate Hemophilia B

      FamilyInfo: N/A

      ParentalTesting: None

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: reduced factor IX activity FIX:C:2.1%; FIX:Ag:1.6

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.59T>C (p.Leu20Ser)

      ClinVar: Absent

      CAID: CA414434363

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense CAID:CA414434363 FIXTesting:Full ParentalTest:Unknown DiseaseSeverity:Moderate inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    2. ClingenBaseline 24 Oct 2026
      c.83G>A p.Cys28Tyr

      Case#: Guo_Proband_3 (assumed male; Chinese)

      DiseaseAssertion: Moderate Hemophilia B

      FamilyInfo: N/A

      ParentalTesting: None

      CasePresentingHPOs:

      CaseHPOsFreeText: reduced factor IX activity FIX:C: 2.9%; FIX:Ag: 3.0)

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.83G>A (p.Cys28Tyr)

      ClinVar: Absent

      CAID: CA414434483

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense CAID:CA414434363 FIXTesting:Full ParentalTest:Unknown DiseaseSeverity:Moderate inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    3. ClingenBaseline 23 Oct 2026

      Case#: Guo_Family 2_Proband 1 (Chinese, assumed male)

      DiseaseAssertion: Moderate Hemophilia B

      FamilyInfo: None

      ParentalTesting: N/A

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: FIX:Ag: 1.6%, FIX:C: 2.1%

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.59T>C (p.Leu20Ser)

      ClinVar: Absent

      CAID: CA414434363

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense CAID:CA414434363 FIXTesting:Full ParentalTest:Unknown DiseaseSeverity:Moderate ExperimentalAssay 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/pdf/10.1111/hae.12534
  3. 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 24 Oct 2026
      The final list of mutations is provided in Supplementary Table S1.

      Case#: N/A

      DiseaseAssertion: Severe 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.59T>C (p.Leu20Ser)

      ClinVar: Absent

      CAID: CA414434363

      gnomAD: Absent/NotReported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense CAID:CA414434363 DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC6606640/
  4. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    High resolution melting for F9 gene mutation analysis in patients with haemophilia B
    1
    1. ClingenBaseline 23 Oct 2026
      c.59T>C

      Case#: Salviato_Proband_1164 (male, Chinese)

      DiseaseAssertion: 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.59T>C (p.Leu20Ser)

      ClinVar: Absent

      CAID: CA414434363

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense CAID:CA414434363 FIXTesting:None inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC6343595/
  5. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Molecular analysis of 76 Chinese hemophilia B pedigrees and the identification of 10 novel mutations
    1
    1. ClingenBaseline 22 Oct 2026
      c.59T>Cp.Leu20Ser

      Case#: Huang_Proband_2

      DiseaseAssertion: 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.59T>C (p.Leu20Ser)

      ClinVar: Absent

      CAID: CA414434363

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense CAID:CA414434363 FIXTesting:None ParentalTest:Unknown inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC7667291/
  6. 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 22 Oct 2026

      Case#: Liu_Proband_322 (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.59T>C (p.Leu20Ser)

      ClinVar: Absent

      CAID: CA414434363

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense CAID:CA414434363 FIXTesting:None ParentalTest:Unknown DiseaseSeverity:Severe 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/pdf/10.1002/1098-1004(200007)16:1<31::AID-HUMU6>3.0.CO
  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_4 (male, Italian)

      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.59T>C (p.Leu20Ser)

      ClinVar: Absent

      CAID: CA414434363

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense CAID:CA414434363 ParentalTest:Unknown DiseaseSeverity:Severe FIXTesting:None inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    haematologica.org/article/view/3523
  8. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A genetic analysis of 23 Chinese patients with hemophilia B
    1
    1. ClingenBaseline 22 Oct 2026
      14

      Case#: 14

      DiseaseAssertion: Hemophilia B, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FIX:C < 1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: All exons, UTRs, exon-intron junction regions, and the promotor of F9 were amplified by PCR and analyzed by direct DNA sequencing

      Gene: F9

      Variant: NM_000133.3:c.59T>C

      LegacyVariant:

      ClinVar: No

      CAID: CA414434363

      gnomAD:

      CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB Inhibitor:NotReported AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Full ParentalTest:Unknown Mutation: Missense CAID:CA414434363 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC4842959/