| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS63+1G>A (c.8051+1G>A) | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GGG | Gly | spl+1 | Spl. | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #43 |
| At the mRNA level | On restriction map |
| Skipping of exon 63, frameshift | New restriction site(s): none Lost restriction site(s): none |
| Impact on splicing | ||||||||||
| Splice site type | Wild type sequence | CV | Mutant type sequence | CV | Variation (%) | |||||
| AGGgtaagc |
| AGGataagc |
| -29.2 % | ||||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| USA03STA F0048 I01 | Proband | NA | NA | ? | U.S.A |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom |
| no clinical data |
| Reference ID | PubMed ID | Reference |
| 54 | 10464652 | Liu WO, Oefner PJ, Qian C, Odom RS, Francke U. "Denaturing HPLC-identified novel FBN1 mutations, polymorphisms, and sequence variants in Marfan syndrome and related connective tissue disorders". Genet Test 1997-98;1(4):237-42. |