Variation name (cDNA level) | Variation name (protein level) | Variation status |
c.806_807ins13 | p.Leu270ValfsX18 |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
TCA | Ser | ins13c | Fs. | Stop at 287 | Fr. |
Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
EXO1 stabilization |
At the mRNA level | On restriction map |
New restriction site(s): none Lost restriction site(s): none |
Sample ID | Patient status |
17_121541212576001--- | Relative |
Symptom |
Reference ID | Reference |
17 | Unpublished data |