Variation name (cDNA level) | Variation name (protein level) | Variation status |
c.556delA | p.Arg186GlufsX19 |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
AGA | Arg | del1a | Fs. | Stop at 204 | Fr. |
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 |
SO_-2797G05410G05410 | Relative |
Symptom |
Reference ID | Reference |
71 | Unpublished data |