| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS7+2T>C (c.1049+2T>C) | Heterozygous | CAUSAL |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAC | Asp | spl+2 | Spl. | T->C | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Ju,NF,Pem,NM,RP,FA,HD |
| 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 (%) | |||||
| GGAgtgagg |
| GGAgcgagg |
| -33.7 % | ||||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of Death | Geographic origin |
| 04-VI04-D15M- | Proband | Female | 30 |
| Phenotypic group | Disease |
| Strong | Please contact curator |
| Reference ID | PubMed ID | Reference |
| 0 | Í |