Variation name (cDNA level) | Variation name (protein level) | Variation status |
c.228_237dup | p.Ser80LeufsX3 |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
AGT | Ser | ins10a | Fs. | Stop at 82 |
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_PSL2181---10-885 | Relative |
Symptom |
Reference ID | Reference |
33 | Unpublished data |