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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov

[Pro731Ser mutation in the β-myosin heavy chain and hypertrophic cardiomyopathy in a Chinese pedigree]

1
1. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
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  Case1:
  
  DiseaseAssertion: Hypertrophic cardiomyopathy
  
  CaseHPOFreeText: severe congestive heart failure
  
  GenotypingMethod: bi-directional Sanger sequencing
  
  Variant: NM_000257.4:c.2191C>T
  
  ClinVar: 181176
  
  CAID: CA011922
  
  gnomAD: not found
  
  CAID:CA011922 ClinVarID:181176 DiseaseEntity:HCM CaseInfo PreviousTesting:None InheritancePattern:NoInheritanceAssertion inferred_gene_hgnc:7577 inferred_gene_source:CAID Cardiomyopathy Annotation
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Tags

DiseaseEntity:HCM

InheritancePattern:NoInheritanceAssertion

Cardiomyopathy Annotation

ClinVarID:181176

PreviousTesting:None

inferred_gene_hgnc:7577

CaseInfo

inferred_gene_source:CAID

CAID:CA011922

Annotators

ClingenBaseline

URL

pubmed.ncbi.nlm.nih.gov/25327599/