1 Matching Annotations
  1. Last 7 days
  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort
    1
    1. ClingenBaseline 09 Nov 2026
      EO27 yes TNNT2 14 c.794A>T Lys265Ile MISSENSE

      Case#: E027

      DiseaseAssertion: Early onset hypertrophic cardiomyopathy

      FamilyInfo: Familiarity case reported as "yes"

      ParentalTesting: Not reported

      CasePresentingHPOs: HP:0001639

      CaseHPOFreeText: Not reported

      CaseNotHPOs: Not reported

      CaseNotHPOFreeText: Not reported

      CasePreviousTesting: Not reported

      Genotyping Method: Next Generation Sequencing

      FunctionalAnalysis: Not reported

      Variant: c.794A>T (Lys265Ile)

      ClinVar: Not found

      CAID: CA005099

      gnomAD: Not found

      AdditionalInfo: Clinical significance: known/uncertain significance. Allele coverage: 193.

      CAID:CA005099 Variant:Missense Gene:TNNT2 DiseaseEntity:HCM InheritancePattern:AutosomalDominant HGNCID:11949 inferred_gene_hgnc:11949 inferred_gene_source:HGNC_body Cardiomyopathy Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    pmc.ncbi.nlm.nih.gov/articles/PMC5000637/