| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.972dup | p.Glu325ArgfsX44 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAG | Glu | ins1a | Fs. | Stop at 368 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| 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 |
| CS2PV | Proband | ITALY |
| Phenotypic group | Disease |
| Symptom |
| Reference ID | PubMed ID | Reference |
| 3 | 10196384 | Colella S, Nardo T, Mallery D, Borrone C, Ricci R, Ruffa G, Lehmann AR, Stefanini M. Alterations in the CSB gene in three Italian patients with the severe form of Cockayne syndrome (CS) but without clinical photosensitivity. Hum Mol Genet 1999;8(5):935-41. |