| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS34-1G>C (c.4337-1G>C) | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAT | Asp | spl-1 | Spl. | G->C | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #21 | Ca2+ binding |
| At the mRNA level | On restriction map |
| Not tested on cDNA | 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 (%) | |||||
| cctccccccaagAT |
| cctccccccaacAT |
| -35.2 % | ||||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| CHI01HKO F0026 I0001 | Proband | NA | NA | CHINA |
| Phenotypic group | Disease |
| NA | Unknown |
| Symptom |
| Clinical data will be implemented as soon as possible |
| Reference ID | PubMed ID | Reference |
| 181 | 19533785 | Chung BH, Lam ST, Tong TM, Li SY, Lun KS, Chan DH, Fok SF, Or JS, Smith DK, Yang W, Lau YL. "Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes". Am J Med Genet A. 2009 Jul;149A(7):1452-9. |