| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.6996delT | p.Asp2333ThrfsX65 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CTT | Leu | del1c | Fs. | Stop at 2397 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like#36 |
| 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 |
| SWI01ZUR F0003 I01 | Proband | NA | NA | Unknown | SWITZERLAND |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom |
| no clinical data |
| Reference ID | PubMed ID | Reference |
| 98 | 11933199 | Matyas G, De Paepe A, Halliday D, Boileau C, Pals G, Steinmann B. "Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: Identification of 20 novel mutations and two novel polymorphisms in the FBN1 gene". Hum Mutat. 2002,19:443-56. |