2 Matching Annotations
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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
    2
    1. ClingenBaseline 21 Oct 2026
      nt 695 G to A, Arg to Gln

      PatientID: 28

      KindredID: 6014

      Case: F, 43Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0030405 (pancreatic endocrine tumour)

      CaseHPOFreeText: She presented with one radiologic pancreatic endocrine tumour.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R161Q (c.482G>A)

      LegacyVariant: p.R161Q (c.695G>A)

      CaseProblemVariantFreeText: N/A

      ClinVar:182983 https://www.ncbi.nlm.nih.gov/clinvar/variation/182983/

      CAID: CA020413 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.482G%3EA

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: R161Q (c.482G>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:pancreaticendocrinetumor DiseaseEntity:VHL AgeOfPresentation:pancreaticendocrinetumor:43 Mutation:Germline MutationType:missense_variant;transition AssumedRefSeq:AF010238.1 CivicName:R161Q(c.482G>A) cdnaposition:482 ProteinPosition:161 AminoAcidChange:ARGtoGLN CAID:CA020413 ClinVarID:182983 NoFamilyInfo ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026
      nt 695 G to A, Arg to Gln

      PatientID: 28

      KindredID: 6014

      Case: F, 43Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0030405 (pancreatic endocrine tumour)

      CaseHPOFreeText: She presented with one radiologic pancreatic endocrine tumour.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R161Q (c.482G>A)

      LegacyVariant: p.R161Q (c.695G>A)

      CaseProblemVariantFreeText: N/A

      ClinVar:182983 https://www.ncbi.nlm.nih.gov/clinvar/variation/182983/

      CAID: CA020413 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.482G%3EA

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: R161Q (c.482G>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:pancreaticendocrinetumor DiseaseEntity:VHL AgeOfPresentation:pancreaticendocrinetumor:43 Mutation:Germline MutationType:missense_variant;transition AssumedRefSeq:AF010238.1 CivicName:R161Q(c.482G>A) cdnaposition:482 ProteinPosition:161 AminoAcidChange:ARGtoGLN CAID:CA020413 ClinVarID:182983 NoFamilyInfo ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    www-sciencedirect-com.proxy1.lib.uwo.ca/science/article/pii/S0039606000070100