Table 1 In Silico analysis of founded mutation in affected individuals
From: Unraveling a novel FBN1 variant in Marfan syndrome with dilated aortic root manifestation
Location | DNA | Protein | Genotype | ACMG | Mutation taster | CADD |
|---|---|---|---|---|---|---|
chr15:48802276 | c.1676delCinsAAT | p. Ala559GlufsTer21 | Heterozygous | Pathogenic | Disease causing | 38 |