| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| ATG | Met |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Ju, NM, RP |
| Other deleterious mutation(s) reported for this sample: c.544G>T; c.1_18del ? |
| Other variation(s) reported for this sample: ; c.1299T>C; ; c.512G>A; c.1254C>T; c.IVS9-115G>C (c.1351-115G>C) |
| 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 |
| Proband |
| Phenotypic group | Disease |
| Please contact curator |
| Reference ID | PubMed ID | Reference |
| 0 | Í |