Variation name (cDNA level) | Variation name (protein level) | Variation status |
c.3631dup | p.Met1211AsnfsX6 |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
ATG | Met | ins1b | Fs. | Stop at 1216 |
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 |
7_-6237ILP0610643E061327 | Relative |
Symptom |
Reference ID | Reference |
7 | Unpublished data |