1 Matching Annotations
  1. Last 7 days
  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Serine biosynthesis as a novel therapeutic target for dilated cardiomyopathy
    1
    1. ClingenBaseline 07 Nov 2026
      15-year-old patient

      Case#: 15

      DiseaseAssertion: Dilated cardiomyopathy

      FamilyInfo: NR

      ParentalTesting: NR

      CasePresentingHPOs: NA

      CaseHPOFreeText: decreased cardiac contractility

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: NR

      Genotyping Method: Sanger sequencing

      FunctionalAnalysis: NR

      Variant: NM_001276345.2:c.577C>T

      ClinVar: 834548

      CAID: CA088264

      gnomAD: NR

      AdditionalInfo: NA

      Variant:Missense Gene:TNNT2 HGNC:11949 CAID:CA088264 ClinVarID:834548 Zygosity:Homozygous CaseInfo DiseaseEntity:DCM InheritancePattern:NoInheritanceAssertion inferred_gene_hgnc:11949 inferred_gene_source:hgnc_tag Cardiomyopathy Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    pmc.ncbi.nlm.nih.gov/articles/PMC9794189/