2 Matching Annotations
  1. Oct 2026
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Identification of 31 novel mutations in the F8 gene in Spanish hemophilia A patients: structural analysis of 20 missense mutations suggests new intermolecular binding sites
    1
    1. ClingenBaseline 23 Oct 2026
      C.6515C>T

      Case#: 29

      DiseaseAssertion: Hemophilia A

      FamilyInfo: Positive

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: Severe

      CasePreviousTesting: All 26 exons and exon-intron boundaries of the F8 gene were amplified using primers and PCR, analyzed by direct forward and reverse sequencing using a DNA sequencing kit

      Gene: F8

      Variant: NM_000132.3:c.6515C>T (p.Pro2153Leu)

      ClinVar: NA

      CAID: CA414907354

      gnomAD: Not reported

      CAID:CA414907354 Zygosity:NoZygosityAssertion ParentalTest:Unknown DiseaseEntity:FactorVIIIDeficiency InheritancePattern:Xlinked CaseInfo HGNC:3546 Mutation:Missense Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC2275016/
  3. onlinelibrary.wiley.com onlinelibrary.wiley.com
    hae14141-sup-0001-tables1.pdf
    1
    1. ClingenBaseline 22 Oct 2026
      96

      Case#: 96, male, 55 years old, Chinese

      DiseaseAssertion: Hemophilia A, moderate

      FamilyInfo: Noted Family History

      ParentalTesting: Maternity confirmed

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C = 1.2%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA

      Gene: F8

      Variant: NM_000132.3:c.6515C>T

      LegacyVariant:

      ClinVar: No

      CAID: CA414907354

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity SupplementalData CAID:CA414907354 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
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    onlinelibrary.wiley.com/action/downloadSupplement