This mutation is located at the extremely conserved region in MYH6 gene in Primates, Myosin heavy chain-α isoform (MHC-α), and it is presumed to result in a truncated protein that is associated with Cardiomyopathy and ASD type 3 (OMIM: 614089, 613,251). This evidence concerns the gene MYH6 and cardiomyopathy.