| Variation name (cDNA level) | Variation name (protein level) | Variation status |
| c.IVS3-2A>G (c.646-2A>G) |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| ATA | Ile | spl-2 | Spl. | A>G |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Connector |
| At the mRNA level | On restriction map |
| 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 (%) | |||||
| ctttcaaaatagAT |
| ctttcaaaatggAT |
| -37.2 % | ||||||
| Sample ID | Patient status |
| 7_-2394---E050750 | Relative |
| Symptom |
| Reference ID | Reference |
| 7 | Unpublished data |