1 Matching Annotations
  1. Last 7 days
  2. academic.oup.com academic.oup.com
    In silico VHL Gene Mutation Analysis and Prognosis of Pancreatic Neuroendocrine Tumors in von Hippel–Lindau Disease
    1
    1. ClingenBaseline 25 Oct 2026
      R167L 2 

      GroupID: None

      DiseaseAssertion: VHL

      GroupSize:2

      GroupNumberMales:N/A

      GroupNumberFemales:N/A

      GroupEthnicity: N/A

      GroupAgeRange: ≥12

      GroupInfo: The two patients were grouped by mutation.

      GroupPresentingHPOs: HP:0001732 (abnormality of the pancreas)

      GroupHPOFreeText: N/A

      GroupNotHPOs:N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R167L(c.500G>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 526685 https://www.ncbi.nlm.nih.gov/clinvar/variation/526685/

      CAID:N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName:R167L(c.500G>T)

      MultipleGeneVariants: N/A

      MutationType:missense_variant;transversion InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:VHL NoFamilyInfo cDNAposition:500 ProteinPosition:167 CivicName:R167L(c.500G>T) AminoAcidChange:ARGtoLEU ClinVarID:526685 ClinVarID:Yes DiseaseEntity:abnormalityofthepancreas ExperimentalAssay inferred_gene_hgnc:6716 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    academic.oup.com/jcem/article/103/4/1631/4774929