The gene FBN1, LOC126862124 (fibrillin 1| CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:48764566-48765765), on Chromosome 15, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Familial thoracic aortic aneurysm and aortic dissection