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  2. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Characterization of endolymphatic sac tumors and von Hippel–Lindau disease in the International Endolymphatic Sac Tumor Registry
    1
    1. ClingenBaseline 03 Nov 2026
      1 Germany c.392A>C p.Asn131Thr

      GroupID: 16

      Case: Sex unknown, Age unknown, German

      DiseaseAssertion: VHL

      FamilyInfo: Unknown. 1 registrant was found with this variant; no family info was mentioned

      CasePresentingHPOs: HP:0030393 (Endolymphatic sac tumor)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.N131T (c.392A>C)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: N/A

      CAID: CA351753944 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.392A%3EC

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: N131T (c.392A>C)

      MultipleGeneVariants: N/A

      CAID:CA351753944 ClinVarID:N/A cDNAposition:392 ProteinPosition:131 AminoAcidChange:ASNtoTHR Ethnicity:German Mutation:Germline RefSeq:NM_000551.3 DiseaseEntity:endolymphaticsactumor DiseaseEntity:VHL MutationType:missense_variant;transversion CivicName:N131T(c.392A>C) inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/full/10.1002/hed.24067