| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3715_3716delAA | p.Lys1239GlufsX2 | Homozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| AAG | Lys | del2a | Fs. | Stop at 1240 | 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 |
| Meira_COFS | Proband | CANADA |
| Phenotypic group | Disease |
| Symptom |
| Reference ID | PubMed ID | Reference |
| 2 | 10739753 | Meira LB, Graham JM Jr, Greenberg CR, Busch DB, Doughty AT, Ziffer DW, Coleman DM, Savre-Train I, Friedberg EC. Manitoba aboriginal kindred with original cerebro-oculo- facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene. Am J Hum Genet 2000;66(4):1221-8. |