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  2. erc.bioscientifica.com erc.bioscientifica.com
    Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients
    1
    1. ClingenBaseline 22 Oct 2026
      VHL3c.455C>Tp.Thr152Ile1LCBc

      PatientID: N/A

      KindredID: 1

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: paraganglioma

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0002668 (paraganglioma)

      CaseHPOFreeText: Paraganglioma of the head and neck region (HNPGL): Left carotid body; nonsecreting paraganglioma

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: MAX, SDHA, SDHB, SDHC, SDHD, SDHAF2, TMEM127

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.T152I (c.455C>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA351754382 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.455C%3ET

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: T152I (c.455C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:paraganglioma Mutation:Germline AssumedRefSeq:NM_000551.3 CivicName:T152I(c.455C>T) cDNAposition:455 AminoAcidChange:THRtoILE MutationType:missense_variant;transition ProteinPosition:152 CAID:CA351754382 ClinVarID:N/A NoFamilyInfo PreviousTesting:MAX/SDHA/SDHB/SDHC/SDHD/SDHAF2/TMEM127 inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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