Variation name (cDNA level) | Variation name (protein level) | Variation status |
c.730_834del | p.Arg244_Gln278del |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
AGG | Arg | del105a | InF | In frame del | InF |
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 |
7_113631011083E102031 | Relative |
Symptom |
Reference ID | Reference |
7 | Unpublished data |