1 Matching Annotations
  1. Last 7 days
  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 30 Oct 2026

      PatientID: 16

      KindredID: 16

      Case: M, 20Y0M, Ethnicity Unknown

      DiseaseAssertion: Adrenal pheochromocytoma

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0006748 (adrenal pheochromocytoma)

      CaseHPOFreeText: The patient was found to have multiple benign tumour 1 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.*214G(c.640T>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA351756720 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.640T%3EG

      gnomAD: N/A

      VariantEvidence: The patient had LOH of VHL, SDHB, SDHC, and SDHD as indicated by Table 1.

      MutationType: stop_lost

      CivicName: *214G(c.640T>G)

      MultipleGeneVariants: Somatic, RET, c.2307T>G

      MutationType:stop_lost InheritancePattern:AutosomalDominant Mutation:Germline MultipleGeneVariants DiseaseEntity:adrenalpheochromocytoma ageofpresentation:adrenalpheochromocytoma:20 NoFamilyInfo AssumedRefSeq:NM_000551.3 PreviousTesting:RET/SDHB/SDHD/SDHC cDNAposition:640 ProteinPosition:214 ClinVarID:N/A CAID:CA351756720 CivicName:*214G(c.640T>G) AminoAcidChange:TERtoGLY inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    link.springer.com/article/10.1007/s12672-012-0113-y