| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.6018delT | p.Gln2007LysfsX52 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CTT | Leu | del1c | Fs. | Stop at 2058 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #30 |
| At the mRNA level | On restriction map |
| Deletion in a stretch of nucleotides | 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 F0002 I01 | Proband | Female | familial | GERMANY |
| Phenotypic group | Disease |
| NA | Classical MFS + |
| Symptom | Severity |
| C-Asc. aortic dilatation | |
| C-Asc. aortic dissection | surgery |
| Reference ID | PubMed ID | Reference |
| 66 | 10425041 | Abd El-Aleem A, Karck M, Haverich A, Schmidtke J, Arslan-Kirchner M. "Identification of 9 novel FBN1 mutations in German patients with Marfan syndrome". Hum Mutation 1999 Aug 19;14(2):181. |