Variation name (cDNA level) | Variation name (protein level) | Variation status |
c.3423_3434del | p.Thr1142_Arg1145del |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
TCT | Ser | del12c | InF | In frame del | InF |
Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
ATP binding |
At the mRNA level | On restriction map |
New restriction site(s): none Lost restriction site(s): none |
Sample ID | Patient status |
19_2597025970-00225970-002 | Relative |
Symptom |
Reference ID | Reference |
19 | Unpublished data |