| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS6+62C>T (c.736+62C>T) | Heterozygous | Polymorphism |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAT | Asp | spl+62 | Spl. | C->T | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #01 | 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 (%) | |||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| GER05DOR F0004 I0001 | Proband | NA | NA | GERMANY |
| Phenotypic group | Disease |
| NA | Unknown |
| Symptom |
| Reference ID | PubMed ID | Reference |
| 147 | 17418587 | Waldmuller S, Muller M, Warnecke H, Rees W, Schols W, Walterbusch G, Ennker J, Scheffold T. "Genetic testing in patients with aortic aneurysms/dissections: a novel genotype/phenotype correlation?" Eur J Cardiothorac Surg. 2007 Jun;31(6):970-5. |