| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.2203C>T | p.Arg735X | Homozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CGA | Arg | TGA | Stop | C->T | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| No | Yes |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| GM10905 | Proband | MEXICO |
| Phenotypic group | Disease |
| Symptom |
| Reference ID | PubMed ID | Reference |
| 7 | 10767341 | Colella S, Nardo T, Botta E, Lehmann AR, Stefanini M. Identical mutations in the CSB gene associated with either Cockayne syndrome or the DeSanctis-cacchione variant of xeroderma pigmentosum. Hum Mol Genet 2000;9(8):1171-5. |