1 Matching Annotations
  1. Last 7 days
  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Germ‐line Mutation Analysis in Patients with von Hippel‐Lindau Disease in Japan: An Extended Study of 77 Families
    1
    1. ClingenBaseline 24 Oct 2026

      GroupID: 46

      DiseaseAssertion: VHL

      GroupSize: 2

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: Japanese

      GroupAgeRange: N/A

      GroupInfo: 2 individuals from a single family (ID 46).

      GroupPresentingHPOs: HP:0001732; HP:0005584 (Abnormality of the pancreas, Renal cell carcinoma)

      GroupHPOFreeText: Renal cell carcinoma (2/2) and pancreatic tumor or cyst (unspecified) (1/2).

      GroupNotHPOs: HP:0009711; HP:0010797 (Retinal capillary hemangioma, Hemangioblastoma)

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: 8634692

      SupplementalData: N/A

      Variant: p.L118P (c.353T>C)

      LegacyVariant: c.566T>C

      CaseProblemVariantFreeText: N/A

      ClinVarID: 428807, https://www.ncbi.nlm.nih.gov/clinvar/variation/428807/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: L118P (c.353T>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Japanese DiseaseEntity:VHL DiseaseEntity:abnormalityofthepancreas DiseaseEntity:renalcellcarcinoma Mutation:Germline RefSeq:AF010238.1 cDNAposition:353 ProteinPosition:118 AminoAcidChange:LEUtoPRO ClinVarID:428807 ClinVarID:Yes MutationType:missense_variant;transition CivicName:L118P(c.353T>C) Familial FamilyCohort inferred_gene_hgnc:9069 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/10761708/