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  2. www-sciencedirect-com.proxy1.lib.uwo.ca www-sciencedirect-com.proxy1.lib.uwo.ca
    Clinical and genetic analysis of patients with pancreatic neuroendocrine tumors associated with von Hippel-Lindau disease
    1
    1. ClingenBaseline 03 Nov 2026
      1132Fnt 688 del A, frameshiftP, 11112+

      PatientID: 11

      KindredID: 1112

      Case: F, 32Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0030405 (Pancreatic endocrine tumor)

      CaseHPOFreeText: The patient presented with one pathologic pancreatic neuroendocrine tumour at age 32. The tumour had metastasized.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.E160Sfs*10(c.477del)

      LegacyVariant:p.E160Sfs*10(c.688delA)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 182959 https://www.ncbi.nlm.nih.gov/clinvar/variation/182959/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: minus_1_frameshift_variant

      CivicName:E160fs (c.477del)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:AF010238.1 DiseaseEntity:VHL NoFamilyInfo DiseaseEntity:pancreaticendocrinetumor AgeOfPresentation:pancreaticendocrinetumor:32 cDNAposition:477 ProteinPosition:160 AminoAcidChange:GLUtoSER ClinVarID:182959 ClinVarID:Yes MutationType:minus_1_frameshift_variant CivicName:E160fs(c.477del) inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    www-sciencedirect-com.proxy1.lib.uwo.ca/science/article/pii/S0039606000070100