Variation name (cDNA level) | Variation name (protein level) | Variation status |
c.1248C>G | p.Tyr416X |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
TAC | Tyr | TAG | Stop | C->G | Tv |
Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
Yes, coding strand | No |
At the mRNA level | On restriction map |
New restriction site(s): none Lost restriction site(s): none |
Sample ID | Patient status |
20_2355-05---8713 | Relative |
Symptom |
Reference ID | Reference |
20 | Unpublished data |