| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.5143delA | p.Thr1715ProfsX178 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| ACC | Thr | del1a | Fs. | Stop at 1892 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| TGFBP#05 | conserved AA in TGFBP |
| 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 |
| SWI01ZUR F0036 I01 | Proband | NA | NA | SWITZERLAND |
| Phenotypic group | Disease |
| NA | NA |
| Symptom |
| Clinical data will be implemented as soon as possible |
| Reference ID | PubMed ID | Reference |
| 188 | 19618372 | Magyar I, Colman D, Arnold E, Baumgartner D, Bottani A, Fokstuen S, Addor MC, Berger W, Carrel T, Steinmann B, M‡ty‡s G. "Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes". Hum Mutat. 2009 Sep;30(9):1355-64. |