| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS7-2A>C (c.1050-2A>C) | Heterozygous | LIKELY CAUSAL |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAC | Asp | spl-2 | Spl. | A->C | Tv |
| 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 (%) | |||||
| ctgctctcacagCT |
| ctgctctcaccgCT |
| -33 % | ||||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of Death | Geographic origin |
| 02-CE18-C01R- | Proband | Female | 16 |
| Phenotypic group | Disease |
| Please contact curator |
| Reference ID | PubMed ID | Reference |
| 0 | Í |