| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1299T>C | p.His433His | Benign |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CAT | His | CAC | His | T->C | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Pem,NM,RP,HD,CH | No | No |
| Other deleterious mutation(s) reported for this sample: c.544G>T; c.1_18del ? |
| Other variation(s) reported for this sample: ; ; ; 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): BsaA I, Mae II, Pml I Lost restriction site(s): Nla III |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0 | - | 18 (Polymorphism) |
| 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 |