1 Matching Annotations
  1. Last 7 days
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Hypertrophic cardiomyopathy clinical phenotype is independent of gene mutation and mutation dosage
    1
    1. ClingenBaseline 22 Oct 2026

      CasePT-33: United States

      CasePresentingHPOs: HP:0001639 (Hypertrophic cardiomyopathy)

      HPOsFreeText: N/A

      CaseNotHPOs: HP:0001650, HP:0001658 (Aortic valve stenosis, Myocardial infarction)

      NotHPOsFreeText: N/A

      CaseAddInfo: PT-34 is the proband's sibling in Family 17 with the same genotype

      CaseGenotypingMethod: DNA was collected from the participants using blood samples. 18 genes suspected on contributing to HCM were targeted and sequenced. The variants were then located and filtered for pathogenicity.

      Variant: NM_000257.3:c.1615A>G (p.Met539Val)

      ClinVar: 181409 https://www.ncbi.nlm.nih.gov/clinvar/variation/181409/

      gnomAD: Not in gnomAD

      Individual CaseInfo Variant GenotypingMethod AutosomalDominant HCM FullPreviousTesting AdditionalPreviousTesting SupplementalData ClinVarID:181409 inferred_gene_hgnc:14406 inferred_gene_source:ClinVar Cardiomyopathy Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC5679632/