| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1045_1051del | p.Gln349ThrfsX17 | Heterozygous | CAUSAL |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CAG | Gln | del7a | Fs. | Stop at 365 | Fr. |
| 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 |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of Death | Geographic origin |
| 03-NO05-J01C- | Proband | Male | 52 |
| Phenotypic group | Disease |
| Moderate | Please contact curator |
| Reference ID | PubMed ID | Reference |
| 0 | Í |