| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.7039_7040delAT | p.Met2347ValfsX19 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| ATG | Met | del2a | Fs. | Stop at 2365 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| TGFBP #07 |
| 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 |
| USA04NOR F0006 I5213 | Proband | NA | de novo | Unknown | U.S.A |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom |
| no clinical data |
| Reference ID | PubMed ID | Reference |
| 101 | 11826022 | Korkko J, Kaitila I, Lonnqvist L, Peltonen L, Ala-Kokko L. "Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions". J Med Genet. 2002 Jan;39(1):34-41. |