2 Matching Annotations
  1. Last 7 days
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Functional and Oncologic Outcomes of Partial Adrenalectomy for Pheochromocytoma in VHL Patients After at Least 5 Years of Follow Up
    2
    1. ClingenBaseline 21 Oct 2026
      MSL128F1 (5.6)1 (3.8)

      GroupID: 8

      Case: Age, Sex, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: 1 individual belonging to 1 family was mentioned with this VHL mutation. No other family info was provided.

      CasePresentingHPOs: HP:0002666 (pheochromocytoma)

      CaseHPOFreeText: Other manifestations aside from pheochromocytoma are possible; but not specified.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.L128F (c.381_382delinsTT)

      CaseProblemVariantFreeText: Paper called "L" Lysine but it matches to Leucine in all 3 cases. Likely an error in word choice by authors.

      LegacyVariant: N/A

      ClinVarID: 223203 https://www.ncbi.nlm.nih.gov/clinvar/variation/223203

      CAID: CA357088 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.381_382delinsTT

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: delins

      CivicName: L128F (c.381_382delinsTT)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline DiseaseEntity:VHL DiseaseEntity:pheochromocytoma Familial AssumedRefSeq:AF010238.1 AminoAcidChange:LEUtoPHE ProteinPosition:128 cDNAposition:381 CivicName:L128F(c.381_382delinsTT) MutationType:delins ClinVarID:223203 ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026
      MSL128F1 (5.6)1 (3.8)

      GroupID: 8

      Case: Age, Sex, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: 1 individual belonging to 1 family was mentioned with this VHL mutation. No other family info was provided.

      CasePresentingHPOs: HP:0002666 (pheochromocytoma)

      CaseHPOFreeText: Other manifestations aside from pheochromocytoma are possible; but not specified.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.L128F (c.381_382delinsTT)

      CaseProblemVariantFreeText: Paper called "L" Lysine but it matches to Leucine in all 3 cases. Likely an error in word choice by authors.

      LegacyVariant: N/A

      ClinVarID: 223203 https://www.ncbi.nlm.nih.gov/clinvar/variation/223203

      CAID: CA357088 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.381_382delinsTT

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: delins

      CivicName: L128F (c.381_382delinsTT)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline DiseaseEntity:VHL DiseaseEntity:pheochromocytoma Familial AssumedRefSeq:AF010238.1 AminoAcidChange:LEUtoPHE ProteinPosition:128 cDNAposition:381 CivicName:L128F(c.381_382delinsTT) MutationType:delins ClinVarID:223203 ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC3164541/