2 Matching Annotations
  1. Last 7 days
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Molecular Analysis of Factor VIII and Factor IX Genes in Hemophilia Patients: Identification of Novel Mutations and Molecular Dynamics Studies
    2
    1. ClingenBaseline 21 Oct 2026
      UQU-HB3

      Case#: UQU-HB3, Male, 1-months-old, Saudi Arabia

      DiseaseAssertion: Hemophilia B

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: Severe, PTT 50.9, Disabled left ankle

      CasePreviousTesting: Screened for all factor IX exons by capillary sequencing

      Gene: F9

      Variant: NM_001313913.1:c.580G>A (p.Asp194Asn)

      ClinVar: NA

      CAID: CA414441211

      gnomAD: Not reported

      Mutation:Missense InheritancePattern:NoInheritanceAssertion DiseaseEntity:FactorVIIIDeficiency ParentalTest:Unknown Zygosity:NoZygosityAssertion CAID:CA414441211 HGNC:3551 CaseInfo Gene:F9 inferred_gene_hgnc:3551 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    2. ClingenBaseline 21 Oct 2026
      UQU-HB9

      Case#: UQU-HB9, Male, 1-months-old, Saudi Arabia

      DiseaseAssertion: Hemophilia B

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: Moderate, PTT 51.4, Unable to flex knees fully

      CasePreviousTesting: Screened for all factor IX exons by capillary sequencing

      Gene: F9

      Variant: NM_001313913.1:c.580G>A

      ClinVar: NA

      CAID: CA414441211

      gnomAD: Not reported

      Mutation:Missense InheritancePattern:NoInheritanceAssertion DiseaseEntity:FactorVIIIDeficiency Zygosity:NoZygosityAssertion ParentalTest:Unknown CAID:CA414441211 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/