| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3125C>T | p.Pro1042Leu | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CCA | Pro | CTA | Leu | C->T | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Yes, coding strand | No |
| At the mRNA level | On restriction map |
| New restriction site(s): Rma I Lost restriction site(s): PflM I |
| Pathogenicity (bioinformatics predictions) | ||
| Conservation (0-1) | SIFT (0-1) | UMD predictor (0-100) |
| 0 | - | 59 (Probable polymorphism) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| CS2BI | Proband | U.K. |
| Phenotypic group | Disease |
| Symptom |
| Reference ID | PubMed ID | Reference |
| 4 | 9443879 | Mallery DL, Tanganelli B, Colella S, Steingrimsdottir H, van Gool AJ, Troelstra C, Stefanini M, Lehmann AR. Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome. Am J Hum Genet 1998;62(1):77-85. |