Variation name (cDNA level) | Variation name (protein level) | Variation status |
c.3472_3474delAGA | p.Arg1158del |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
AGA | Arg | del3a | InF | In frame del | InF |
Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
Beta-catenin binding domain 3 |
At the mRNA level | On restriction map |
New restriction site(s): none Lost restriction site(s): none |
Sample ID | Patient status |
20_0910-01---2845 | Relative |
Symptom |
Reference ID | Reference |
20 | Unpublished data |