| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS32+3G>C (c.4087+3G>C) | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAT | Asp | spl+3 | Spl. | G->C | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #19 | 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 (%) | |||||
| CTGgtgagt |
| CTGgtcagt |
| -7.3 % | ||||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| KOR01SEO F0039 I0001 | Proband | NA | NA | S. KOREA |
| Phenotypic group | Disease |
| NA | Unknown |
| Symptom |
| Clinical data will be implemented as soon as possible |
| Reference ID | PubMed ID | Reference |
| 189 | 19863550 | Yoo EH, Woo H, Ki CS, Lee HJ, Kim DK, Kang IS, Park P, Sung K, Lee CS, Chung TY, Moon JR, Han H, Lee ST, Kim JW. "Clinical and genetic analysis of Korean patients with Marfan syndrome: possible ethnic differences in clinical manifestation". Clin Genet. 2010 Feb;77(2):177-82. |