2 Matching Annotations
  1. Last 7 days
  2. www-sciencedirect-com.proxy1.lib.uwo.ca www-sciencedirect-com.proxy1.lib.uwo.ca
    Higher Prevalence of Novel Mutations in VHL Gene in Chinese Von Hippel-Lindau Disease Patients
    1
    1. ClingenBaseline 05 Nov 2026
      Family 4−1c.275insCCdelAYes123––24––

      PatientID: None

      KindredID: 4

      Case: Unknown, 24Y0M, Chinese

      DiseaseAssertion:VHL

      FamilyInfo: None.

      CasePresentingHPOs: HP:0010797, HP:0001732 (hemangioblastoma, abnormality of the pancreas)

      CaseHPOFreeText:The patient presented with hemangioblastoma at age 23. One year later he/she was found to have pancreatic cysts or tumors.

      CaseNotHPOs: HP:0009711, HP:0002666, HP:0005584 (retinal capillary hemangioma, pheochromocytoma, renal cell carcinoma)

      CaseNotHPOFreeText: No epididymal/ovarian cystadenomas.

      CasePreviousTesting: N/A

      PreviouslyPublished: 29330336

      Variant: p.D92Afs*40(c.275delAinsCC)

      LegacyVariant:N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA1139768933 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.275delAinsCC

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: delins

      CivicName:D92fs(c.275delAinsCC)

      MultipleGeneVariants: N/A

      mutationtype:delins InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:NM_000551.3 Ethnicity:Chinese DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:abnormalityofthepancreas AgeOfPresentation:Hemangioblastoma:23 AgeOfPresentation:abnormalityofthepancreas:24 cDNAposition:275 ProteinPosition:92 AminoAcidChange:ASPtoALA ClinVarID:N/A CAID:CA1139768933 CivicName:D92fs(c.275delAinsCC) NonFamilial inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    www-sciencedirect-com.proxy1.lib.uwo.ca/science/article/pii/S0090429513014969
  3. 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 04 Nov 2026
      1 France c.275A>G p.Asp92Gly

      GroupID: 8

      Case: Sex unknown, Age unknown, French

      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.D92G (c.275A>G)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: N/A

      CAID: CA351750765 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.275A%3EG

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: D92G (c.275A>G)

      MultipleGeneVariants: N/A

      CAID:CA351750765 ClinVarID:N/A MutationType:missense_variant;transition AminoAcidChange:ASPtoGLY ProteinPosition:92 CivicName:D92G(c.275A>G) cDNAposition:275 DiseaseEntity:endolymphaticsactumor Ethnicity:French DiseaseEntity:VHL Mutation:Germline RefSeq:NM_000551.3 inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/full/10.1002/hed.24067