Variation name (cDNA level) | Variation name (protein level) | Variation status |
c.3498_3501delTAAT | p.Tyr1166X |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
TAT | Tyr | del4c | Fs. | Stop at 1166 | 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 |
4_30933---30933 | Relative |
Symptom |
Reference ID | Reference |
4 | Unpublished data |