Variation name (cDNA level) | Variation name (protein level) | Variation status |
c.288T>A | p.Tyr96X |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
TAT | Tyr | TAA | Stop | T->A | Tv |
Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
No | No |
At the mRNA level | On restriction map |
New restriction site(s): none Lost restriction site(s): none |
Sample ID | Patient status |
33_STL861---10-1242 | Relative |
Symptom |
Reference ID | Reference |
33 | Unpublished data |