Variation name (cDNA level) | Variation name (protein level) | Variation status |
c.704dup | p.Leu235PhefsX17 |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
TTA | Leu | ins1c | Fs. | Stop at 251 |
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 |
33_PSL2250---09-0080 | Relative |
Symptom |
Reference ID | Reference |
33 | Unpublished data |