| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS7+4A>T (c.1049+4A>T) | Heterozygous | LIKELY CAUSAL |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAC | Asp | spl+4 | Spl. | A->T | 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 (%) | |||||
| GGAgtgagg |
| GGAgtgtgg |
| -11 % | ||||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of Death | Geographic origin |
| 03-JE26-H05R- | Proband | Male | 54 |
| Phenotypic group | Disease |
| Moderate | Please contact curator |
| Reference ID | PubMed ID | Reference |
| 0 | Í |