Variation name (cDNA level) | Variation name (protein level) | Variation status |
c.862_868dup | p.Ser290AsnfsX8 |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
AGT | Ser | ins7b | Fs. | Stop at 297 |
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 |
19_2985---2985.002 | Relative |
Symptom |
Reference ID | Reference |
19 | Unpublished data |