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    Molecular Analysis of Factor VIII and Factor IX Genes in Hemophilia Patients: Identification of Novel Mutations and Molecular Dynamics Studies
    2
    1. ClingenBaseline 23 Oct 2026
      UQU-HB7

      Case#: UQU-HB7, Male, 16-months-old, Saudi Arabia

      DiseaseAssertion: Hemophilia B

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: Severe, Disabled right knee and both ankles , PTT 53.2

      CasePreviousTesting: Screened for all factor IX exons by capillary sequencing

      Gene: F9

      Variant: NM_000133.3(F9):c.880C>T (p.Arg294Ter)

      ClinVar: 10587 https://www.ncbi.nlm.nih.gov/clinvar/variation/10587/

      CAID: CA255344

      gnomAD: Not reported

      ClinVarID:10587 CAID:CA255344 Mutation:Nonsense InheritancePattern:NoInheritanceAssertion DiseaseEntity:FactorIXDeficiency Zygosity:NoZygosityAssertion ParentalTest:Unknown CaseInfo HGNC:3551 Gene:F9 inferred_gene_hgnc:3551 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    2. ClingenBaseline 22 Oct 2026
      UQU-HB6

      Case#: UQU-HB6, Male, 11-months-old, Saudi Arabia

      DiseaseAssertion: Hemophilia B

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: Severe, Disabled right knee, PTT 52.2

      CasePreviousTesting: Screened for all factor IX exons by capillary sequencing

      Gene: F9

      Variant: NM_000133.3(F9):c.880C>T (p.Arg294Ter)

      ClinVar: 10587 https://www.ncbi.nlm.nih.gov/clinvar/variation/10587/

      CAID: CA255344

      gnomAD: Not reported

      ClinVarID:10587 CAID:CA255344 Mutation:Nonsense DiseaseEntity:FactorIXDeficiency InheritancePattern:NoInheritanceAssertion Zygosity:NoZygosityAssertion ParentalTest:Unknown CaseInfo HGNC:3551 Gene:F9 inferred_gene_hgnc:3551 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC5330775/
  3. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    297-15.indd
    1
    1. ClingenBaseline 23 Oct 2026
      9-month old boy was diagnosed with severe haemophilia B

      Case1: Male, 9-months at time of diagnosis

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0001933 (Subcutaneous hemorrhage), HP:0007420 (Spontaneous hematomas), HP:0012233 (Intramuscular hematoma), HP:0005261 (Joint hemorrhage)

      CaseHPOFreeText: FIX: C <1%, recurrent anaphylactic reactions to FIX (abdominal pain, respiratory arrest, and severe hypotension)

      CasePreviousTesting: F9 analysis (revealed a point mutation at exon H)

      Gene: F9

      Variant: NM_000133.3(F9):c.880C>T (p.Arg294Ter)

      LegacyVariant: g 30863 C>T; Arg 248 stop

      ClinVar: 10587 https://www.ncbi.nlm.nih.gov/clinvar/variation/10587/

      gnomAD: Not reported

      CaseInfo Gene:F9 HGNC:3551 DiseaseEntity:FactorIXDeficiency InheritancePattern:NoInheritanceAssertion Mutation:Missense FIXtesting:Partial Zygosity:NoZygosityAssertion ParentalTest:Unknown ClinVarID:10587 inferred_gene_hgnc:3551 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
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    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC5111390/