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  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Mutation screening in a Norwegian cohort with pheochromocytoma
    1
    1. ClingenBaseline 09 Nov 2026
      VHL

      PatientID: 52

      KindredID: 2

      Case: Sex Unknown, 23Y0M, Norwegian

      DiseaseAssertion: pheochromocytoma

      FamilyInfo: Yes, a family history of neuroendocrine tumor (NET). They have another family member with the same mutation and pheochromocytoma.

      CasePresentingHPOs: HP:0002666 (pheochromocytoma)

      CaseHPOFreeText: Preoperatively presented with hypertension; surgery at 23Y.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: NF1, RET, SDHB, SDHC, SDHD

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.F119S (c.356T>C)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA351753715 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.356T%3EC

      gnomAD: N/A

      VariantEvidence: This mutation was found in DNA from the adjacent normal tissue, and this finding was found to be reproducible. The same VHL variant was later on observed in a family member with PHEO.

      MutationType: missense_variant;transition

      CivicName: F119S (c.356T>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Norwegian DiseaseEntity:pheochromocytoma Familial PreviousTesting:NF1/RET/SDHB/SDHC/SDHD Mutation:Germline AssumedRefSeq:NM_000551.3 CAID:CA351753715 ClinVarID:N/A AminoAcidChange:PHEtoSER ProteinPosition:119 cDNAposition:356 MutationType:missense_variant;transition CivicName:F119S(c.356T>C) inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/23407919/