Variation name (cDNA level) | Variation name (protein level) | Variation status |
c.934_8532del | p.Val312fsX17 |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
GTG | Val | del7599a | InF | Stop at 328 | 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 |
37_P02.011100--- | Relative |
Symptom |
Reference ID | Reference |
37 | Unpublished data |