| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.4619_4641dup | p.Ala1548LeufsX41 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GCC | Ala | ins23a | Fs. | Stop at 1588 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| TGFBP#04 |
| At the mRNA level | On restriction map |
| Duplication 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 |
| GER03HAN F0044 I01 | Proband | NA | NA | GERMANY |
| Phenotypic group | Disease |
| NA | NA |
| Symptom |
| Reference ID | PubMed ID | Reference |
| 133 | 16220557 | Rommel K, Karck M, Haverich A, von Kodolitsch Y, Rybczynski M, Muller G, Singh KK, Schmidtke J, Arslan-Kirchner M. "Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome". Hum Mutat. 2005 Dec;26(6):529-39. |