2 Matching Annotations
  1. Last 7 days
  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Exploring the role of defective fibronectin matrix assembly in the VHL-associated CNS hemangioblastoma
    2
    1. ClingenBaseline 21 Oct 2026
      PMID: 29813026

      PatientID: 1

      KindredID: 1

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: hemangioblastoma

      FamilyInfo: N/A - Not specified

      CasePresentingHPOs: HP:0010797 (hemangioblastoma)

      CaseHPOFreeText: VHL syndromic HB

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Q96_P102del (c.287_307del)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA2573106190 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA2573106190

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: inframe_deletion

      CivicName: Q96_P102del (c.287_307del)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:hemangioblastoma Mutation:Germline AssumedRefSeq:NM_000551.3 CivicName:Q96_P102del(c.287_307del) ProteinPosition:96 cDNAposition:287 MutationType:inframe_deletion CAID:CA2573106190 ClinVarID:N/A NoFamilyInfo ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026
      PMID: 29813026

      PatientID: 1

      KindredID: 1

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: hemangioblastoma

      FamilyInfo: N/A - Not specified

      CasePresentingHPOs: HP:0010797 (hemangioblastoma)

      CaseHPOFreeText: VHL syndromic HB

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Q96_P102del (c.287_307del)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA2573106190 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA2573106190

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: inframe_deletion

      CivicName: Q96_P102del (c.287_307del)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:hemangioblastoma Mutation:Germline AssumedRefSeq:NM_000551.3 CivicName:Q96_P102del(c.287_307del) ProteinPosition:96 cDNAposition:287 MutationType:inframe_deletion CAID:CA2573106190 ClinVarID:N/A NoFamilyInfo ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/29813026/