| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.963C>A | p.Tyr321X | Heterozygous | CAUSAL |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TAC | Tyr | TAA | Stop | C->A | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| NF,NM,RP,FA,HD | No | No |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): Nla III |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of Death | Geographic origin |
| 03-SO13-M09C- | Proband | Female | 56 |
| Phenotypic group | Disease |
| Please contact curator |
| Reference ID | PubMed ID | Reference |
| 0 | Í |