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  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Exploring the role of defective fibronectin matrix assembly in the VHL-associated CNS hemangioblastoma
    1
    1. ClingenBaseline 31 Oct 2026
      PMID: 29813026

      PatientID: 2

      KindredID: 2

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: hemangioblastoma

      FamilyInfo: N/A - Not specified

      CasePresentingHPOs: HP:0010797 (hemangioblastoma)

      CaseHPOFreeText: VHL syndromic HB (both germline and somatic variants were observed

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R120_121S (c.360_362delAGA)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA2573131861 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA2573131861

      gnomAD: N/A

      VariantEvidence: A VHL subject in our patient population had a full length deletion (FLD) in the germline VHL gene, but a VHL gene tumor second hit mutation (c.360_362delAGA) causing an amino acid change of p.R120-121S detected in the HB tumor

      MutationType: delins

      CivicName: Deletion AND R120_121S (c.360_362delAGA)

      MultipleGeneVariants: Germline, VHL, complete deletion

      InheritancePattern:AutosomalDominant DiseaseEntity:hemangioblastoma Mutation:Somatic AssumedRefSeq:NM_000551.3 ClinVarID:N/A CAID:CA2573131861 NoFamilyInfo MultipleVHLVariants cDNAposition:360 cDNAposition:362 ProteinPosition:120 ProteinPosition:121 AminoAcidChange:ARGtoSER MutationType:deletion MutationType:delins CivicName:DeletionANDR120_121S(c.360_362delAGA) CivicName:R120_121S(c.360_362delAGA) inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/29813026/