2 Matching Annotations
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  2. erc.bioscientifica.com erc.bioscientifica.com
    Integrative analysis of miRNA and mRNA expression profiles in pheochromocytoma and paraganglioma identifies genotype-specific markers and potentially regulated pathways
    2
    1. ClingenBaseline 21 Oct 2026
      VHL_3Frozenc.482G>Ap.Arg161GlnM37AdrenalPCCB

      PatientID: VHL_3 (tumor ID)

      KindredID: 3

      Case: M, 37Y0M, Ethnicity Unknown

      DiseaseAssertion: Adrenal pheochromocytoma

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0006748 (Adrenal pheochromocytoma)

      CaseHPOFreeText: The patient had a benign adrenal pheochromocytoma at 37Y.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

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

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 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

      InheritancePattern:AutosomalDominant DiseaseEntity:adrenalpheochromocytoma AgeOfPresentation:adrenalpheochromocytoma:37 Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:482 ProteinPosition:161 AminoAcidChange:ARGtoGLN ClinVarID:182983 ClinVarID:Yes MutationType:missense_variant;transition CivicName:R161Q(c.482G>A) NoFamilyInfo inferred_gene_hgnc:1076 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026
      VHL_3Frozenc.482G>Ap.Arg161GlnM37AdrenalPCCB

      PatientID: VHL_3 (tumor ID)

      KindredID: 3

      Case: M, 37Y0M, Ethnicity Unknown

      DiseaseAssertion: Adrenal pheochromocytoma

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0006748 (Adrenal pheochromocytoma)

      CaseHPOFreeText: The patient had a benign adrenal pheochromocytoma at 37Y.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

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

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 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

      InheritancePattern:AutosomalDominant DiseaseEntity:adrenalpheochromocytoma AgeOfPresentation:adrenalpheochromocytoma:37 Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:482 ProteinPosition:161 AminoAcidChange:ARGtoGLN ClinVarID:182983 ClinVarID:Yes MutationType:missense_variant;transition CivicName:R161Q(c.482G>A) NoFamilyInfo inferred_gene_hgnc:1076 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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