| 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 |
| FRA01BOU F0546 I0583 | Proband | Female | de novo | FRANCE |
| Phenotypic group | Disease |
| NA | Unknown |
| Symptom |
| Reference ID | PubMed ID | Reference |
| 207 | - | Boileau C. (personnal communication 2013) |