| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS6-1G>A (c.913-1G>A) | Heterozygous | CAUSAL |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GGC | Gly | spl-1 | Spl. | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| NF,Pem,NM,RP,NMH,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 (%) | |||||
| acctccatccagGG |
| acctccatccaaGG |
| -32.1 % | ||||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of Death | Geographic origin |
| 04-CE12-A14N- | Proband | Female | 28 |
| Phenotypic group | Disease |
| Not available | Please contact curator |
| Reference ID | PubMed ID | Reference |
| 0 | Í |