| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.6513delT | p.Val2172LeufsX13 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TCT | Ser | del1c | Fs. | Stop at 2184 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #33 |
| 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 |
| USA03STA F0043 I01 | Proband | NA | NA | ? | U.S.A |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom |
| no clinical data |
| Reference ID | PubMed ID | Reference |
| 54 | 10464652 | Liu WO, Oefner PJ, Qian C, Odom RS, Francke U. "Denaturing HPLC-identified novel FBN1 mutations, polymorphisms, and sequence variants in Marfan syndrome and related connective tissue disorders". Genet Test 1997-98;1(4):237-42. |