2 Matching Annotations
  1. Last 7 days
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Targeted Next-Generation Sequencing Reveals Hot Spots and Doubly Heterozygous Mutations in Chinese Patients with Familial Cardiomyopathy
    2
    1. ClingenBaseline 21 Oct 2026
      Family B II: 3

      Case#: male, 43 yrs,

      DiseaseAssertion: FDCM

      FamilyInfo: Family B; sister also proband; brother died of SCD; daughter and father asymptomatic

      CasePresentingHPOs: HP:0012250 (ST segment depression)

      CaseHPOFreeText: severe cardiac enlargement, increased LVEDD (77.8 mm), decreased LVESD (69.8 mm), decreased LVEF (21% < 50%), heart rate 78 beats/min, widened QRS complex (120 ms > 110 ms)

      CaseNotHPOs:

      CaseNotHPOFreeText:

      CasePreviousTesting: N/A

      CaseGenotypingMethod: Sanger sequencing, Genome Analyzer IIx, ECG,

      Variant: NM_000257.4(MYH7):c.3134G>A (p.Arg1045His)

      ClinVar: 651054 https://www.ncbi.nlm.nih.gov/clinvar/variation/651054/

      CAID: N/A

      gnomAD: absent

      Individual CaseInfo InheritancePattern:AutosomalDominant DiseaseEntity:FDCM Mutation:Germline PreviousTesting:Additional PreviousTesting:Partial FamilyInfo ClinVarID:651054 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar Cardiomyopathy Annotation
    2. ClingenBaseline 21 Oct 2026
      Family B II: 1

      Case#: female

      DiseaseAssertion: FDCM

      FamilyInfo: Family B; brother also proband; brother died of SCD, niece and father asymptomatic

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      CaseGenotypingMethod: Sanger sequencing, Genome Analyzer IIx, ECG,

      Variant: NM_000257.4(MYH7):c.3134G>A (p.Arg1045His)

      ClinVar: 651054 https://www.ncbi.nlm.nih.gov/clinvar/variation/651054/

      CAID: N/A

      gnomAD: absent

      Individual CaseInfo InheritancePattern:AutosomalDominant DiseaseEntity:FDCM Mutation:Germline ClinVarID:651054 PreviousTesting:Additional PreviousTesting:Partial FamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:ClinVar Cardiomyopathy Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC4495182/