| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1066G>T | p.Glu356X | Heterozygous | CAUSAL |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAA | Glu | TAA | Stop | G->T | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Ju,NF,Pem,NM,RP,FA,HD | Yes, non coding strand | No |
| At the mRNA level | On restriction map |
| New restriction site(s): Cfr10 I Lost restriction site(s): BstK I, Dsa V, ScrF I |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of Death | Geographic origin |
| 03-LE16-A12A- | Proband | Male | 44 |
| Phenotypic group | Disease |
| Please contact curator |
| Reference ID | PubMed ID | Reference |
| 0 | Í |