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  2. link.springer.com link.springer.com
    Somatic Mutation Analysis of the SDHB , SDHC , SDHD , and RET Genes in the Clinical Assessment of Sporadic and Hereditary Pheochromocytoma
    1
    1. ClingenBaseline 14 Nov 2026

      PatientID: 9

      KindredID: 9

      Case: M, 14Y0M, Ethnicity Unknown

      DiseaseAssertion: Adrenal pheochromocytoma

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0006748 (adrenal pheochromocytoma)

      CaseHPOFreeText: The patient was found to have multiple benign tumour 4 cm in size in his adrenal gland.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET/SDHC/SDHB/SDHD

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.S65T(c.193T>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA351748794 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.193T%3EA

      gnomAD: N/A

      VariantEvidence: The patient had LOH of SDHC as indicated in Table 1.

      MutationType: missense_variant;transversion

      CivicName: S65T(c.193T>A)

      MultipleGeneVariants: N/A

      MutationType:missense_variant;transversion InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:adrenalpheochromocytoma AgeOfPresentation:adrenalpheochromocytoma:14 NoFamilyInfo PreviousTesting:RET/SDHB/SDHD/SDHC cDNAposition:193 ProteinPosition:65 AminoAcidChange:SERtoTHR CAID:CA351748794 ClinVarID:N/A CivicName:S65T(c.193T>A) inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    link.springer.com/article/10.1007/s12672-012-0113-y