Variation name (cDNA level) | Variation name (protein level) | Variation status |
c.1775delT | p.Leu592TyrfsX18 |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
TTA | Leu | del1b | Fs. | Stop at 609 | 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 |
7_-5849ILP0710885E071158 | Relative |
Symptom |
Reference ID | Reference |
7 | Unpublished data |