Variation name (cDNA level) | Variation name (protein level) | Variation status |
c.532_8532del | p.Phe178fsX8 |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
TTT | Phe | del8001a | InF | Stop at 185 | 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 |
19_13113---13113.002 | Relative |
Symptom |
Reference ID | Reference |
19 | Unpublished data |