Variation name (cDNA level) | Variation name (protein level) | Variation status |
c.291delG | p.Gln97HisfsX77 |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
CAG | Gln | del1c | Fs. | Stop at 173 | Fr. |
Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
Mismatch binding |
At the mRNA level | On restriction map |
New restriction site(s): none Lost restriction site(s): none |
Sample ID | Patient status |
8_454648370808-056141 | Relative |
Symptom |
Reference ID | Reference |
8 | Unpublished data |