Problem
As part of investigating familial hypertrophic cardiomyopathy, you have been asked to genotype a sample for a genetic variant. The individual concerned is a sibling of a cardiomyopathy patient in whom the c.2497G>A ; p.Ala833Thr variant has been identified in the cardiac myosin binding protein C (MYBPC3) gene. You will receive blood samples from both individuals. Describe the sequence of laboratory and bioinformatics methods you will use for this project as you have never worked on the MYBPC3 gene before. Assuming that the individual under investigation is a carrier of the c.2497G>A ; p.Ala833Thr variant describe the bioinformatics methods you could use to assess the potential pathogenicity of this variant.
Gene annotation particularly is not my strong point, so can you also help me understand when designing the primers, how do we determine which transcript of the c.2497G>A ; p.Ala833Thr variant is on the MYBPC3 gene?