2 Matching Annotations
  1. Last 7 days
  2. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Genetic characterization and structural analysis of VHL Spanish families to define genotype–phenotype correlations
    1
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    onlinelibrary.wiley.com/doi/10.1002/humu.10309
  3. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    The Endothelial Landscape and Its Role in Von Hippel-Lindau Disease
    1
    1. ClingenBaseline 23 Oct 2026
      V#2exon 3c.485G > Ap.C162YCNS-HB

      PatientID: 2

      KindredID: 2

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0010797 (hemangioblastoma)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Yes

      Variant: p.C162Y (c.485G>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223225, https://www.ncbi.nlm.nih.gov/clinvar/variation/223225/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: C162Y (c.485G>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:NM_000551.3 SupplementalData DiseaseEntity:VHL DiseaseEntity:hemangioblastoma NoFamilyInfo ProteinPosition:162 cDNAposition:485 AminoAcidChange:CYStoTYR ClinVarID:223225 ClinVarID:Yes MutationType:missense_variant;transition CivicName:C162Y(c.485G>A) ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC8465092/