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    Absence of BRAF mutation in pheochromocytoma and paraganglioma
    1
    1. ClingenBaseline 10 Nov 2026
      07MPARAMediastinum24noNoVHL: c.376G>A, p.Asp126Asn

      PatientID: 10

      KindredID: 10

      Case: M, 7Y0M, Ethnicity Unknown

      DiseaseAssertion: paraganglioma

      FamilyInfo: No details on family information provided.

      CasePresentingHPOs: HP:0002668 (paraganglioma)

      CaseHPOFreeText: Patient had mediastinum paraganglioma.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.D126N (c.376G>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 141044, https://www.ncbi.nlm.nih.gov/clinvar/variation/141044/

      CAID: N/A

      gnomAD: 0.00001988, https://gnomad.broadinstitute.org/variant/3-10188233-G-A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: D126N (c.376G>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline MutationType:missense_variant;transition AssumedRefSeq:NM_000551.3 DiseaseEntity:paraganglioma CivicName:D126N(c.376G>A) cDNAPosition:376 ProteinPosition:126 AminoAcidChange:ASPtoASN NoFamilyInfo ClinVarID:Yes ClinVarID:141044 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC7440814/