| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.7167_7168delCT | p.Cys2390SerfsX15 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CTC | Leu | del2c | Fs. | Stop at 2404 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| TGFBP #07 | conserved AA in TGFBP | Yes, coding strand |
| At the mRNA level | On restriction map |
| Deletion of a repeated sequence | New restriction site(s): none Lost restriction site(s): BsiY I, Dsa I, Eae I, Hae III, Nco I, Nla III, Sty I |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| GER01BER F0054 I0001 | Proband | NA | NA | GERMANY |
| Phenotypic group | Disease |
| NA | NA |
| Symptom |
| Clinical data will be implemented as soon as possible |
| Reference ID | PubMed ID | Reference |
| 129 | - | Robinson P. (Personnal comunication 2004-2006). |