3 Matching Annotations
  1. Oct 2026
  2. illiad.lib.unc.edu illiad.lib.unc.edu
    3072516.pdf
    1
    1. ClingenBaseline 23 Oct 2026

      Case#: Calgary 4

      DiseaseAssertion: Hemophilia B

      FamilyInfo: 9 carrier females, 3 affected males, 1 female obligate carrier

      ParentalTesting: N/A

      CasePresentingHPOs: HP:0001929

      CaseHPOsFreeText: reduced factor IX activity

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      Gene: F9

      Variant: c.19A>T (p.Ile7Phe)

      LegacyVariant: c.48A>T (p.Ile-40Phe)

      ClinVar: Absent

      CAID: CA10529708

      gnomAD: Filtering AF: 0.0007752 (no homozygotes)

      Variant: NM_000133.3:c.1150C>T (p.Arg384Ter)

      LegacyVariant: c.31133C>T (p.Arg338Ter)

      ClinVar: Absent

      CAID: CA255399

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense CAID:CA10529708 Mutation:Nonsense CAID:CA255399 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    illiad.lib.unc.edu/NOH/illiad.dll
  3. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    ajhg00106-0108.pdf
    1
    1. ClingenBaseline 22 Oct 2026
      ile 40-phe

      Case: E91M

      DiseaseAssertion: Hemophilia B

      FamilyInfo: Family E91M

      ParentalTesting: Not available

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Factor IX Coagulant: 30

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.19A>T

      LegacyVariant: c.48A>T (p.Ile7Phe)

      ClinVar: 367997

      CAID: CA10529708

      gnomAD: Filtering AF: 0.001461 (no homozygotes)

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense ParentalTest:Unknown CAID:CA10529708 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC1683422/pdf/ajhg00106-0108.pdf
  4. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Identification of twenty‐one new mutations in the factor IX gene by SSCP analysis
    1
    1. ClingenBaseline 21 Oct 2026

      Case#: Patient 66 (Spanish origin; assumed male)

      DiseaseAssertion: Mild Hemophilia B

      FamilyInfo: Not available

      ParentalTesting: Not available

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: Factor IX: C = 30% (reduced factor IX activity)

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4(F9):c.19A>T (p.Ile7Phe)

      LegacyVariant: c.48A>T (p.Ile-40Phe)

      ClinVar: 367997

      CAID: CA10529708

      gnomAD: Filtering AF: 0.0007752 (no homozygotes)

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense CAID:CA10529708 FIXTesting:Partial ParentalTest:Unknown DiseaseSeverity:Mild inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/pdf/10.1002/(SICI)1098-1004(1999)13:2<160::AID-HUMU9>3.0.CO