1 Matching Annotations
  1. Last 7 days
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Heterogeneous Genetic Background of the Association of Pheochromocytoma/Paraganglioma and Pituitary Adenoma: Results From a Large Patient Cohort
    1
    1. ClingenBaseline 04 Nov 2026
      The other SDHA variant was identified in a patient with a VHL mutation and PA (patient 21)

      PatientID: 21

      KindredID: 12

      Case: F, 27Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CohortInfo: Thirty-nine cases of sporadic or familial pheo/PGL and pituitary adenomas were investigated.

      CasePresentingHPOs: HP:0002893; HP:0002666 (Pituitary adenoma, Pheochromocytoma)

      CaseHPOFreeText: Pituitary adenoma presented at age 27. Pheochromocytoma age of presentation unknown.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: MAX/RET/TMEM127/SDHA/SDHB/SDHC/SDHD/SDHAF2

      PreviouslyPublished: N/A

      SupplementalData: Table 1, Supplementary Table 6

      Variant: p.D197N (c.589G>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA351756524, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_canonicalid?canonicalid=CA351756524

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: D197N (c.589G>A)

      MultipleGeneVariants: Germline, SDHA, c.91C>T (p.Arg31*)

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pituitaryadenoma DiseaseEntity:pheochromocytoma AgeOfPresentation:pituitaryadenoma:27 Mutation:Germline RefSeq:NM_000551.3 cDNAposition:589 ProteinPosition:197 AminoAcidChange:ASPtoASN ClinVarID:N/A CAID:CA351756524 MutationType:missense_variant;transition CivicName:D197N(c.589G>A) PreviousTesting:MAX/RET/TMEM127/SDHA/SDHB/SDHC/SDHD/SDHAF2 Familial SupplementalData MultipleGeneVariants inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC4333031/