Variation name (cDNA level) | Variation name (protein level) | Variation status |
c.3537_3543del | p.Tyr1179X |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
TAT | Tyr | del7c | Fs. | Stop at 1179 | Fr. |
Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
Beta-catenin binding domain 4 |
At the mRNA level | On restriction map |
New restriction site(s): none Lost restriction site(s): none |
Sample ID | Patient status |
SO_-979G04820G04820 | Relative |
Symptom |
Reference ID | Reference |
71 | Unpublished data |