| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1518delG | p.Lys506AsnfsX37 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| AAG | Lys | del1c | Fs. | Stop at 542 | 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 |
| CS1BO | Proband | U.S.A. |
| 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. |