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  2. www-nature-com.proxy1.lib.uwo.ca www-nature-com.proxy1.lib.uwo.ca
    Integrated molecular analysis of clear-cell renal cell carcinoma
    1
    1. ClingenBaseline 23 Oct 2026

      PatientID: ccRCC-159

      KindredID: 159

      Case: M, 59Y0M, Ethnicity Unknown

      DiseaseAssertion: Clear Cell Renal Cell Carcinoma

      FamilyInfo: N/A

      CohortInfo: 240 ccRCC specimens.

      CasePresentingHPOs: HP:0006770 (clear cell renal cell carcinoma)

      CaseHPOFreeText:He was diagnosed with ccRCC at age 56.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Supplementary table 1.

      Variant: c.464-1G>T

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 223221 https://www.ncbi.nlm.nih.gov/clinvar/variation/223221/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: splice_site_variant

      CivicName: Splice Site (c.464-1G>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:clearcellrenalcellcarcinoma AgeOfPresentation:clearcellrenalcellcarcinoma:56 NoFamilyInfo SupplementalData cDNAposition:464 MutationType:splice_site_variant ClinVarID:223221 ClinVarID:Yes ProteinPosition:N/A AminoAcidChange:N/A CivicName:SpliceSite(c.464-1G>T) inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    www-nature-com.proxy1.lib.uwo.ca/articles/ng.2699