2 Matching Annotations
  1. Last 7 days
  2. erc.bioscientifica.com erc.bioscientifica.com
    Systematic comparison of sporadic and syndromic pancreatic islet cell tumors
    2
    1. ClingenBaseline 08 Nov 2026
      c.364_365 GC>ATp.A122I

      GroupID: 12B

      Case: Sex, Age, Ethnicity unknown

      DiseaseAssertion: Unknown. Patient was pulled from either the VHL-Registry or NET- Registry and recorded with the given mutation. Symptoms or manifestations are not clear.

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: HP:0030405 (pancreatic endocrine tumor)

      CasePreviousTesting: Patient was negatively tested for islet cell tumors (ICTs), or listed as pancreatic endocrine tumor.

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.A122I (c.364_365delinsAT)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: Authors report this as: c.364_365GC>AT; which can be translated to c.364_365delinsAT

      ClinVarID: N/A

      CAID: CA658820874 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.364_365delinsAT

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: delins

      CivicName: A122I (c.364_365delinsAT)

      MultipleGeneVariants: N/A

      CAID:CA658820874 ClinVarID:N/A RefSeq:NM_000551.2 NoFamilyInfo Mutation:Germline ProteinPosition:122 cDNAposition:364 MutationType:delins CivicName:A122I(c.364_365delinsAT) AminoAcidChange:ALAtoILE inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    2. ClingenBaseline 03 Nov 2026
      c.364_365 GC>ATp.A122I

      GroupID: 12A

      Case: Sex, Age, Ethnicity unknown

      DiseaseAssertion: VHL

      FamilyInfo: None. The patient with the given mutation in this study was a VHL patient with pancreatic ICTs.

      CasePresentingHPOs: HP:0030405 (pancreatic endocrine tumor)

      CaseHPOFreeText: Patient has islet cell tumors (ICTs), or listed as pancreatic endocrine tumor.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.A122I (c.364_365delinsAT)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: Authors report this as: c.364_365GC>AT; which can be translated to c.364_365delinsAT

      ClinVarID: N/A

      CAID: CA658820874 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.364_365delinsAT

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: delins

      CivicName: A122I (c.364_365delinsAT)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:pancreaticendocrinetumor RefSeq:NM_000551.2 NoFamilyInfo Mutation:Germline ClinVarID:N/A CAID:CA658820874 ProteinPosition:122 cDNAposition:364 CivicName:A122I(c.364_365delinsAT) AminoAcidChange:ALAtoILE MutationType:delins inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    erc.bioscientifica.com/view/journals/erc/17/4/875.xml