MYBPC3 rs55836473: what the research says
A well-known founder mutation (delta 25bp) strongly associated with hypertrophic cardiomyopathy in South Asian populations.
Higher prevalence in South Asian populations (~2-3%).
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A well-known pathogenic variant associated with Hypertrophic Cardiomyopathy, which causes thickening of the heart muscle.
Pathogenic single-nucleotide variant causing sarcomeric dysfunction and predisposing to autosomal dominant hypertrophic cardiomyopathy.
Well-characterized founder variant conferring autosomal dominant predisposition to adult-onset hypertrophic cardiomyopathy.
Variant associated with endurance-focused athletic performance and exercise-induced cardiac remodeling.