1 Matching Annotations
  1. Jul 2021
    1. PatientID: None

      KindredID: 1

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: Adrenal pheochromocytoma

      FamilyInfo: The proband was part of a cohort of apparently sporadic cases of pheochromocytoma/ paraganglioma, implying this individual had no family history of VHL disease or pheochromocytoma.

      CasePresentingHPOs: HP:0006748 (Adrenal Pheochromocytoma)

      CaseHPOFreeText: N/A

      CaseNotHPOs: HP:0002668 (Paraganglioma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET, SDHB, SDHC, and SDHD

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: ex. p.R161Q (c.482G>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: ex. 182983, https://www.ncbi.nlm.nih.gov/clinvar/variation/182983/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: R161Q(c.482G>A)

      MultipleGeneVariants: N/A