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  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    A new common mutation in the cardiac beta-myosin heavy chain gene in Finnish patients with hypertrophic cardiomyopathy
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    1. ClingenBaseline 21 Oct 2026
      MYH7-R1053Q was found in 17 of 306 patients (5.6%). No carriers of MYH7-R719W or N696S were found. A novel TPM1-D175G mutation was found in a single patient.

      Case1: n/a

      DiseaseAssertion: HCM

      FamilyInfo: n/a

      CasePresentingHPOs: n/a

      CaseHPOFreeText: n/a

      CaseNotHPOs: n/a

      CaseNotHPOFreeText: n/a

      CasePreviousTesting: n/a

      GenotypingMethod: Ten mutations in the beta-myosin heavy chain gene (MYH7), TPM1, and MYBPC3 were screened.

      Variant: NM_000257.4:c.3158G>A

      ClinVar: 155814

      CAID: CA013417

      gnomAD: https://gnomad.broadinstitute.org/variant/14-23891476-C-T

      0.0006368 European - Finnish

      CAID:CA013417 ClinVarID:155814 DiseaseEntity:HCM PreviousTesting:None InheritancePattern:NoInheritanceAssertion InsufficentEvidence inferred_gene_hgnc:7577 inferred_gene_source:CAID Cardiomyopathy Annotation
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    pubmed.ncbi.nlm.nih.gov/24888384/