| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.61C>A | p.Arg21Ser | Heterozygous | LIKELY NEUTRAL |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CGC | Arg | AGC | Ser | C->A | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Ju, NM, RP | No | No |
| Other variation(s) reported for this sample: c.IVS3+1G>A (c.654+1G>A) |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): Hha I, HinP I |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0 | - | 71 (Probably pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of Death | Geographic origin |
| 02-SR09-S21G- | Proband | Female | 30 |
| Phenotypic group | Disease |
| Supporting | Please contact curator |
| Reference ID | PubMed ID | Reference |
| 0 | Í |