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
    1
    1. ClingenBaseline 24 Oct 2026
      UQU-HB4

      Case#: UQU-HB4, Male, 6-months-old, Saudi Arabia

      DiseaseAssertion: Hemophilia B

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: Severe, PTT 60.1

      CasePreviousTesting: Screened for all factor IX exons by capillary sequencing

      Gene: F9

      Variant: NM_000133.3(F9):c.1025C>T (p.Thr342Met)

      ClinVar: 10607 https://www.ncbi.nlm.nih.gov/clinvar/variation/10607/

      CAID: CA255381

      gnomAD: Not reported

      ClinVarID:10607 CAID:CA255381 Mutation:Missense InheritancePattern:NoInheritanceAssertion DiseaseEntity:FactorIXDeficiency ParentalTest:Unknown Zygosity:NoZygosityAssertion 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-thieme-connect-com.libproxy.lib.unc.edu www-thieme-connect-com.libproxy.lib.unc.edu
    Application of a molecular diagnostic algorithm for haemophilia A and B using next-generation sequencing of entire F8, F9 and VWF genes
    1
    1. ClingenBaseline 22 Oct 2026
      c.1025C>T

      Case#: 48

      DiseaseAssertion: Hemophilia B

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FIX:C 3% (Moderate Phenotype)

      CasePreviousTesting: Screened for IVS-22 and IVS-1, sample was blinded for NGS and the sequencing component was validated by comparing results with Sanger Sequencing

      Gene: F9

      Variant: NM_000133.3(F9):c.1025C>T (p.Thr342Met)

      ClinVar: 10607 https://www.ncbi.nlm.nih.gov/clinvar/variation/10607/

      CAID: CA255381

      gnomAD: Not reported

      ClinVarID:10607 CAID:CA255381 DiseaseEntity:FactorIXDeficiency InheritancePattern:NoInheritanceAssertion Zygosity:NoZygosityAssertion Mutation:Missense FIXtesting:Partial 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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    www-thieme-connect-com.libproxy.lib.unc.edu/products/ejournals/pdf/10.1160/TH16-05-0375.pdf