Variation name (cDNA level) | Variation name (protein level) | Variation status |
c.847C>T | p.Arg283X |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
CGA | Arg | TGA | Stop | C->T | Ts |
Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
No | Yes |
At the mRNA level | On restriction map |
New restriction site(s): none Lost restriction site(s): none |
Sample ID | Patient status |
SO_-37833043304 | Relative |
Symptom |
Reference ID | Reference |
71 | Unpublished data |