Variation name (cDNA level) | Variation name (protein level) | Variation status |
c.423_531del | p.Arg141SerfsX8 |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
AGG | Arg | del109c | Fs. | Stop at 148 | 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 |
37_F06.054888568599 | Relative |
Symptom |
Reference ID | Reference |
37 | Unpublished data |