1 Matching Annotations
  1. Last 7 days
  2. onlinelibrary.wiley.com onlinelibrary.wiley.com
    hae14141-sup-0001-tables1.pdf
    1
    1. ClingenBaseline 21 Oct 2026
      110

      Case#: 110, male, 9 years old, Chinese

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: Maternity confirmed

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%

      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.7021G>C

      LegacyVariant:

      ClinVar: No

      CAID: CA414896760

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity SupplementalData CAID:CA414896760 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary.wiley.com/action/downloadSupplement