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    Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease
    1
    1. ClingenBaseline 11 Nov 2026
      F6

      PatientID: None (Mother)

      KindredID: F6

      Case: F, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: Asymptomatic

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: c.340+574A>T

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 1040488, https://www.ncbi.nlm.nih.gov/clinvar/variation/1040488/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion; splice_site_variant

      CivicName: c.340+574A>T

      MultipleGeneVariants: Germline, VHL, c.492G>T (p.Gln164His)

      InheritancePattern:AutosomalDominant DiseaseEntity:Asymptomatic Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:N/A ProteinPosition:N/A AminoAcidChange:N/A ClinVarID:1040488 ClinVarID:Yes MutationType:missense_variant;transversion MutationType:splice_site_variant CivicName:c.340+574A>T FamilyPedigree inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    sciencedirect.com/science/article/pii/S0006497120320206