Variation name (cDNA level) | Variation name (protein level) | Variation status |
c.1480insT | p.Ser494X |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
AGT | Ser | ins1a | Fs. | Stop at 494 |
Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
ASEF binding domain ARM1 |
At the mRNA level | On restriction map |
New restriction site(s): none Lost restriction site(s): none |
Sample ID | Patient status |
SO_-80745624562 | Relative |
Symptom |
Reference ID | Reference |
71 | Unpublished data |