rs2138578417
This variant is located in the MYH6 gene.
▶ClinVar annotation
not provided; Cardiovascular phenotype; Sick sinus syndrome 3, susceptibility to;Hypertrophic cardiomyopathy 1;Dilated cardiomyopathy 1EE;Atrial septal defect 3;Hypertrophic cardiomyopathy 14
View on ClinVar →About MYH6
Cardiac muscle myosin is a hexamer consisting of two heavy chain subunits, two light chain subunits, and two regulatory subunits. This gene encodes the alpha heavy chain subunit of cardiac myosin. The gene is located approximately 4kb downstream of the gene encoding the beta heavy chain subunit of cardiac myosin. Mutations in this gene cause familial hypertrophic cardiomyopathy and atrial septal defect 3. [provided by RefSeq, Feb 2017]
View all MYH6 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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