| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS9+1Del12 (c.1350+1Del12) | Heterozygous | CAUSAL |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CAG | Gln | spl+1 | Spl. | Del12 | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| 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 (%) | |||||
| GACAGgtgagggaca |
| GACAGtgcacagag |
| 53.7 % | ||||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of Death | Geographic origin |
| 03-FA20-C12A- | Relative | Female | 51 |
| Phenotypic group | Disease |
| Please contact curator |
| Reference ID | PubMed ID | Reference |
| 0 | Í |