2 Matching Annotations
  1. Last 7 days
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Genetic Variation in the von Willebrand Factor Gene in Swedish von Willebrand Disease Patients
    2
    1. ClingenBaseline 24 Oct 2026
      rs617500716128464c.4120C > T28p.R1374C110.0000242A/M

      Case:n.a.

      DiseaseAssertion:VWD 2A/M

      FamilyInfo:n.a.

      ParentalGenotype(s):n.a.

      CasePresentingHPOs:n.a.

      CaseHPOFreeRext:n.a.

      CaseNOTHPOs:n.a.

      CaseNOTHPOFreeText:n.a.

      CasePreviousTesting:n.a.

      GenotypingMethod: n.a.

      PreviouslyPublished: If applicable. n.a.

      Gene:VWF

      Variant: c.4120C > T

      HGVS: NM_000552.5:c.4120C>T

      ClinVarID:n.a.

      CAID:n.a.

      gnomAD:n.a.

      DiseaseEntity:VWD 2A/M inferred_gene_hgnc:12726 inferred_gene_source:RefSeq ClinGen VWF
    2. ClingenBaseline 24 Oct 2026
      rs617493956128641c.3943C > T28p.R1315C20.0000242A/M

      Case: n.a.

      DiseaseAssertion: VWD 2A/M

      FamilyInfo:n.a.

      ParentalGenotype(s):n.a.

      CasePresentingHPOs:n.a.

      CaseHPOFreeRext:n.a.

      CaseNOTHPOs:n.a.

      CaseNOTHPOFreeText:n.a.

      CasePreviousTesting:n.a.

      GenotypingMethod:n.a.

      PreviouslyPublished: If applicable. n.a.

      Gene:VWF

      Variant:NM_000552.5(VWF):c.3943C>T (p.Arg1315Cys)

      HGVS:NM_000552.5:c.3943C>T

      ClinVarID:100310

      CAID:n.a.

      gnomAD:n.a.

      ClinVarID:100310 DiseaseEntity:VWD 2A/M inferred_gene_hgnc:12726 inferred_gene_source:RefSeq ClinGen VWF
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    ncbi.nlm.nih.gov/pmc/articles/PMC6524857/