4 Matching Annotations
  1. Last 7 days
  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
      4335Fnt 454 C to T, Pro to SerP, 45959nt 775 C to G, Leu to Val

      PatientID: 43

      KindredID: 5959

      Case: F, 35Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0030405 (pancreatic endocrine tumour)

      CaseHPOFreeText: She presented with four pathologic pancreatic neuroendocrine tumors.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.L188V (c.562C>G)

      LegacyVariant: p.L188V (c.775C>G)

      CaseProblemVariantFreeText: N/A

      ClinVar: 2225 https://www.ncbi.nlm.nih.gov/clinvar/variation/2225/

      CAID: CA020488 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.562C%3EG

      gnomAD: 0.00002121 https://gnomad.broadinstitute.org/variant/3-10191569-C-G

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: L188V (c.562C>G)

      MultipleGeneVariants: Germline, VHL, c.241C>T (p.Prp81Ser)

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pancreaticendocrinetumor AgeOfPresentation:pancreaticendocrinetumor:35 AssumedRefSeq:AF010238.1 Mutation:Germline MultipleVHLVariants cDNAposition:562 proteinposition:188 AminoAcidChange:LEUtoVAL ClinVarID:2225 CAID:CA020488 MutationType:missense_variant;transversion CivicName:L188V(c.562C>G) NoFamilyInfo ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026
      4335Fnt 454 C to T, Pro to SerP, 45959nt 775 C to G, Leu to Val

      PatientID: 43

      KindredID: 5959

      Case: F, 35Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0030405 (pancreatic endocrine tumour)

      CaseHPOFreeText: She presented with four pathologic pancreatic neuroendocrine tumors.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.L188V (c.562C>G)

      LegacyVariant: p.L188V (c.775C>G)

      CaseProblemVariantFreeText: N/A

      ClinVar: 2225 https://www.ncbi.nlm.nih.gov/clinvar/variation/2225/

      CAID: CA020488 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.562C%3EG

      gnomAD: 0.00002121 https://gnomad.broadinstitute.org/variant/3-10191569-C-G

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: L188V (c.562C>G)

      MultipleGeneVariants: Germline, VHL, c.241C>T (p.Prp81Ser)

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pancreaticendocrinetumor AgeOfPresentation:pancreaticendocrinetumor:35 AssumedRefSeq:AF010238.1 Mutation:Germline MultipleVHLVariants cDNAposition:562 proteinposition:188 AminoAcidChange:LEUtoVAL ClinVarID:2225 CAID:CA020488 MutationType:missense_variant;transversion CivicName:L188V(c.562C>G) 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
  3. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Familial and genetic researches on three Chinese families with von Hippel-Lindau disease
    2
    1. ClingenBaseline 21 Oct 2026
      Meanwhile, it was also found that the guanine replaced the 559th cytosine on one patient and two carriers from the third family, which made the 116th leucine replaced by valine.

      PatientID: III-7

      KindredID: 3

      Case: F, Age Unknown, Chinese

      DiseaseAssertion: asymptomatic

      FamilyInfo: The transition mutation was found and confirmed in this patient’s mother (II-3) and 2 carriers, her, and her first-cousin once removed (III-7, IV-2). 5 additional members had hemangioblastomas of the CNS, but had all passed away before genetic testing. Could be assumed and deduced the genetics due to pedigree showing future linear relations of this mutation.

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Stated as carrier, however she is young (likely before the age of onset)

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.L116V (c.346C>G)

      LegacyVariant: p.L116V (c.559C>G)

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA351753642 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.346C%3EG

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: L116V (c.346C>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese Mutation:Germline RefSeq:AF010238.1 CivicName:L116V(c.346C>G) cDNAposition:346 ProteinPosition:116 AminoAcidChange:LEUtoVAL MutationType:missense_variant;transversion CAID:CA351753642 ClinVarID:N/A Familial FamilyPedigree DiseaseEntity:asymptomatic inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026
      Meanwhile, it was also found that the guanine replaced the 559th cytosine on one patient and two carriers from the third family, which made the 116th leucine replaced by valine.

      PatientID: III-7

      KindredID: 3

      Case: F, Age Unknown, Chinese

      DiseaseAssertion: asymptomatic

      FamilyInfo: The transition mutation was found and confirmed in this patient’s mother (II-3) and 2 carriers, her, and her first-cousin once removed (III-7, IV-2). 5 additional members had hemangioblastomas of the CNS, but had all passed away before genetic testing. Could be assumed and deduced the genetics due to pedigree showing future linear relations of this mutation.

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Stated as carrier, however she is young (likely before the age of onset)

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.L116V (c.346C>G)

      LegacyVariant: p.L116V (c.559C>G)

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA351753642 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.346C%3EG

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: L116V (c.346C>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese Mutation:Germline RefSeq:AF010238.1 CivicName:L116V(c.346C>G) cDNAposition:346 ProteinPosition:116 AminoAcidChange:LEUtoVAL MutationType:missense_variant;transversion CAID:CA351753642 ClinVarID:N/A Familial FamilyPedigree DiseaseEntity:asymptomatic inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/19133167/