Variation name (cDNA level) | Variation name (protein level) | Variation status |
c.704T>A | p.Leu235X |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
TTA | Leu | TAA | Stop | T->A | Tv |
Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
Yes, coding strand | No |
At the mRNA level | On restriction map |
New restriction site(s): none Lost restriction site(s): none |
Sample ID | Patient status |
SO_-885G05354G05354 | Relative |
Symptom |
Reference ID | Reference |
71 | Unpublished data |