| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.5157insGG | p.Cys1719TrpfsX175 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGC | Cys | ins2c | Fs. | Stop at 1893 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| TGFBP#05 | C in disulfide bonds 1695-1719 |
| At the mRNA level | On restriction map |
| Insertion flanked by direct repeats | 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 F0037 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. |