| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.2023_2026delTTTG | p.Phe675ValfsX42 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TTT | Phe | del4a | Fs. | Stop at 716 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| TGFBP#02 |
| At the mRNA level | On restriction map |
| Deletion of a repeated sequence | New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| UKD07WIL F0014 I0001 | Proband | Male | familial | ? (14 years old) | U.K. |
| Phenotypic group | Disease |
| NA | Incomplete MFS |
| Symptom | Age |
| C-Asc. aortic dilatation | 14 |
| O-Myopia | 14 |
| S-Incomplete description | 14 |
| Reference ID | PubMed ID | Reference |
| 157 | 17627385 | Howarth R, Yearwood C, Harvey JF. "Application of dHPLC for mutation detection of the fibrillin-1 gene for the diagnosis of Marfan syndrome in a National Health Service Laboratory". Genet Test. 2007 Summer;11(2):146-52. |