Variation name (cDNA level) | Variation name (protein level) | Variation status |
c.1283_1293del | p.Glu428GlyfsX12 |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
GAA | Glu | del11b | Fs. | Stop at 439 | 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 |
SO_-3399G03883G03883 | Relative |
Symptom |
Reference ID | Reference |
71 | Unpublished data |