Variation name (cDNA level) | Variation name (protein level) | Variation status |
c.435_441dup | p.Leu148CysfsX2 |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
CTT | Leu | ins7a | Fs. | Stop at 149 |
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_29424---31644 | Relative |
Symptom |
Reference ID | Reference |
4 | Unpublished data |