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    A novel missense mutation in F9 gene causes hemophilia B in a family with clinical variability
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    1. ClingenBaseline 24 Oct 2026
      Fig. 1

      Case#: 12 year old male

      DiseaseAssertion: Hemophilia B, moderate

      FamilyInfo: Mother was a carrier. Maternal uncle has the same hemizygous mutation

      ParentalTesting: Family Pedigree reveals that the mother was a carrier of the variant identified in the proband

      CasePresentingHPOs: HP:0011858, HP:0030839

      CaseHPOFreeText: FIX:C = 1%, proband had a history of soft tissue hemorrhages since 7 years of age

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: Direct nucleotide sequencing was completed

      Gene: F9

      Variant: NM_000133.3:c.157G>C

      LegacyVariant:

      ClinVar: No

      CAID: CA414435729

      gnomAD:

      DiseaseEntity:FactorIXDeficiency DiseaseSeverity:ModerateHemophiliaB Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense Zygosity:Hemizygous PreviousTesting:Additional FIXtesting:Partial ParentalTest:Both FamilyInfo Gene:F9 HGNC:3551 CAID:CA414435729 inferred_gene_hgnc:3551 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
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