Variation name (cDNA level) | Variation name (protein level) | Variation status |
c.3471_3474delGAGA | p.Glu1157AspfsX7 |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
GAG | Glu | del4c | Fs. | Stop at 1163 | Fr. |
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 |
SO_-3205G03429G03429 | Relative |
Symptom |
Reference ID | Reference |
71 | Unpublished data |