2 Matching Annotations
  1. Last 7 days
  2. journals-scholarsportal-info.myaccess.library.utoronto.ca journals-scholarsportal-info.myaccess.library.utoronto.ca
    Genotype–phenotype analysis of von Hippel–Lindau syndrome in fifteen Indian families
    2
    1. ClingenBaseline 25 Oct 2026
      AD 7 27 M ? ? - - - - - c.340 ? 1 G[A p.G114D b

      PatientID: 7

      KindredID: AD

      Case: M, 27Y0M, Indian

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0001737 (Pancreatic cysts)

      CaseHPOFreeText: Multi-cystic pancreatic lesions.

      CaseNotHPOs: HP:0005584; HP:0002666; HP:0030393; HP:0009711; HP:0010797 (Renal cell carcinoma, Pheochromocytoma, Endolymphatic sac tumor, Retinal capillary hemangioma, Hemangioblastoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.G114D (c.340+1G>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223190, https://www.ncbi.nlm.nih.gov/clinvar/variation/223190/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: splice_site_variant; missense_variant;transition

      CivicName: G114D (c.340+1G>A) and c.340+5G>C

      MultipleGeneVariants: N/A

      Ethnicity:Indian InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pancreaticcysts Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:N/A ProteinPosition:114 AminoAcidChange:GLYtoASP ClinVarID:223190 ClinVarID:Yes MutationType:splice_site_variant MutationType:missense_variant;transition CivicName:G114D(c.340+1G>A)andc.340+5G>C Familial inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    2. ClingenBaseline 24 Oct 2026
      AD 13 50 M ? ? - - ? - - c.340 ? 1 G[A p.G114D b

      PatientID: 13

      KindredID: AD

      Case: M, 50Y0M, Indian

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0005584; HP:0001737 (Renal cell carcinoma, Pancreatic cysts)

      CaseHPOFreeText: Multi-cystic pancreatic lesions, RCC.

      CaseNotHPOs: HP:0002666; HP:0030393; HP:0009711; HP:0010797 (Pheochromocytoma, Endolymphatic sac tumor, Retinal capillary hemangioma, Hemangioblastoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.G114D (c.340+1G>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223190, https://www.ncbi.nlm.nih.gov/clinvar/variation/223190/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: splice_site_variant; missense_variant;transition

      CivicName: G114D (c.340+1G>A) and c.340+5G>C

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Indian DiseaseEntity:VHL DiseaseEntity:pancreaticcysts DiseaseEntity:renalcellcarcinoma Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:N/A ProteinPosition:114 AminoAcidChange:GLYtoASP ClinVarID:223190 ClinVarID:Yes MutationType:splice_site_variant MutationType:missense_variant;transition CivicName:G114D(c.340+1G>A)andc.340+5G>C Familial inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    journals-scholarsportal-info.myaccess.library.utoronto.ca/pdf/13899600/v14i0004/585_gaovhsifif.xml