| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.7205_8051del | p.Asp2402GlyfsX68 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAT | Asp | del847b | Fs. | Stop at 2469 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #37 | Ca2+ binding |
| At the mRNA level | On restriction map |
| No mechanism suspected | New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| GER03HAN F0095 I0001 | Proband | Female | de novo | 17 years old | GERMANY |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom | Age |
| C-Asc. aortic dissection | 17 |
| O-Myopia | 17 |
| S-Arachnodactyly (M) | 17 |
| S-Joint hypermobility (m) | 17 |
| S-Pectus carinatum (M)(2) | 17 |
| S-Plain pes planus (M)(1) | 17 |
| S-Reduced extension of the elbows (<170°)(M)(1) | 17 |
| SI-Significant striae atrophicae (m)(1) | 17 |
| Reference ID | PubMed ID | Reference |
| 111 | 17189636 | Singh KK, Elligsen D, Liersch R, Schubert S, Pabst B, Arslan-Kirchner M, Schmidtke J. "Multi-exon out of frame deletion of the FBN1 gene leading to a severe juvenile onset cardiovascular phenotype in Marfan syndrome". J Mol Cell Cardiol. 2007 Feb;42(2):352-6. |