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    ircmj-16-6727.pdf
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    1. ClingenBaseline 22 Oct 2026
      16-year-old boy

      Case1: Male patient, 16-year-old, Tabriz Iran

      DiseaseAssertion: Moderate Hemophilia A

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0005261 (Joint hemorrhage), HP:0030137 (Prolonged bleeding following circumcision)

      CasePreviousTesting: PCR-SSCP and PCR-CSGE was performed for all 26 exons with exon-intron boundaries of F8. Abnormal PCR product were directly sequenced.

      Gene: F8

      Variant: NM_000132.3(F8):c.4925A>G (p.Glu1642Gly)

      ClinVar: NA

      CAID: CA10568060

      gnomAD: MAF for Glu1642Gly in the East Asian population 0.0001346 <br /> https://gnomad.broadinstitute.org/variant/X-154157140-T-C

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA10568060 ParentalTest:Unknown InheritancePattern:NoInheritanceAssertion FVIIItesting:Partial inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC3964430/