Variation name (cDNA level) | Variation name (protein level) | Variation status |
c.1954_1973del | p.His652GlufsX15 |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
CAC | His | del20a | Fs. | Stop at 666 | Fr. |
Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
ASEF binding domain ARM5 |
At the mRNA level | On restriction map |
New restriction site(s): none Lost restriction site(s): none |
Sample ID | Patient status |
7_-5939811089E081150 | Relative |
Symptom |
Reference ID | Reference |
7 | Unpublished data |