RS113358486 MYBPC3

Health Risk Chr 11:47333554 snv splice donor variant
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What This Variant Does
"The rare minor allele of this variant is reported to be pathogenic for familial hypertrophic cardiom...
Associated Conditions
Primary familial hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy
Cardiovascular phenotype
Cardiomyopathy
Hypertrophic cardiomyopathy 4
Left ventricular noncompaction 10
Primary familial hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy
Cardiovascular phenotype
Cardiomyopathy
Hypertrophic cardiomyopathy 4
Left ventricular noncompaction 10
Population Frequencies
gnomAD ALL
100%
Other Variants in MYBPC3
rs373746463 rs193922384 rs121909378 rs121909374 rs886041030 rs886041031 rs121909375 rs121909377 rs2856655 rs587776700
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