Variation name (cDNA level) | Variation name (protein level) | Variation status |
c.250G>T | p.Gly84X |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
GGA | Gly | TGA | Stop | G->T | Tv |
Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
Yes, non coding strand | No |
At the mRNA level | On restriction map |
New restriction site(s): none Lost restriction site(s): none |
Sample ID | Patient status |
7_-5458ILP0512905E051598 | Relative |
Symptom |
Reference ID | Reference |
7 | Unpublished data |