Variation name (cDNA level) | Variation name (protein level) | Variation status |
c.1049_1050delCT | p.Ser350TrpfsX14 |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
TCT | Ser | del2b | Fs. | Stop at 363 | Fr. |
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 |
4_33594---33594 | Relative |
Symptom |
Reference ID | Reference |
4 | Unpublished data |