| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.58dup | p.Val20GlyfsX97 | Heterozygous | CAUSAL |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GTG | Val | ins1b | Fs. | Stop at 116 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Ju, NM, RP |
| 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-GA12-L05O- | Relative | Male | 15 |
| Phenotypic group | Disease |
| asymptomatic | Please contact curator |
| Reference ID | PubMed ID | Reference |
| 0 | Í |