Variation name (cDNA level) | Variation name (protein level) | Variation status |
c.1239dup | p.Arg414ThrfsX5 |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
CGC | Arg | ins1a | Fs. | Stop at 418 |
Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
At the mRNA level | On restriction map |
New restriction site(s): none Lost restriction site(s): none |
Sample ID | Patient status |
4_21172---21172 | Relative |
Symptom |
Reference ID | Reference |
4 | Unpublished data |