2 Matching Annotations
  1. Last 7 days
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Molecular Genetic Diagnosis of von Hippel‐Lindau Disease: Analysis of Five Japanese Families
    2
    1. ClingenBaseline 21 Oct 2026
      three familial cases

      PatientID: 5

      KindredID: C

      Case: M, Age Unknown, Japanese

      DiseaseAssertion: Asymptomatic

      FamilyInfo: This mutation was found in a family of 10 individuals; six were found to carry the mutation NM_000551.3:c.464-1G>T the patient carried, and three presented with symptoms. They were identified with hemangioblastomas of the central nervous system and retinal angiomas. The eldest patient also had renal cell carcinoma (patient C-1).

      CasePresentingHPOs: N/A

      CaseHPOFreeText: The paper states that this patient was not yet symptomatic, suggesting they may be too young to show symptoms yet.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: (c.464-1G>T)

      LegacyVariant: (c.677-1G>T)

      ClinVarID: 223221, http://www.ncbi.nlm.nih.gov/clinvar/variation/223221

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: splice_site_variant

      CivicName: SpliceSite(c.464-1G>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Japanese DiseaseEntity:asymptomatic Mutation:Germline RefSeq:N/A ProteinPosition:N/A AminoAcidChange:N/A ClinVarID:Yes ClinVarID:223221 MutationType:splice_site_variant CivicName:SpliceSite(c.464-1G>T) FamilyPedigree Familial AssumedRefSeq:AF010238.1 cDNAposition:464 inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026
      three familial cases

      PatientID: 5

      KindredID: C

      Case: M, Age Unknown, Japanese

      DiseaseAssertion: Asymptomatic

      FamilyInfo: This mutation was found in a family of 10 individuals; six were found to carry the mutation NM_000551.3:c.464-1G>T the patient carried, and three presented with symptoms. They were identified with hemangioblastomas of the central nervous system and retinal angiomas. The eldest patient also had renal cell carcinoma (patient C-1).

      CasePresentingHPOs: N/A

      CaseHPOFreeText: The paper states that this patient was not yet symptomatic, suggesting they may be too young to show symptoms yet.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: (c.464-1G>T)

      LegacyVariant: (c.677-1G>T)

      ClinVarID: 223221, http://www.ncbi.nlm.nih.gov/clinvar/variation/223221

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: splice_site_variant

      CivicName: SpliceSite(c.464-1G>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Japanese DiseaseEntity:asymptomatic Mutation:Germline RefSeq:N/A ProteinPosition:N/A AminoAcidChange:N/A ClinVarID:Yes ClinVarID:223221 MutationType:splice_site_variant CivicName:SpliceSite(c.464-1G>T) FamilyPedigree Familial AssumedRefSeq:AF010238.1 cDNAposition:464 inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC5921130/