Variation name (cDNA level) | Variation name (protein level) | Variation status |
c.423G>T | p.Arg141Ser |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
AGG | Arg | AGT | Ser | G->T | Tv |
Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
Yes, non coding strand | No |
At the mRNA level | On restriction map |
New restriction site(s): none Lost restriction site(s): none |
Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
---|---|---|
0.69 | 0.00 (pathogenous) | 82 (Pathogenous) |
Sample ID | Patient status |
10_APC-35---3506 P | Relative |
Symptom |
Reference ID | Reference |
10 | Unpublished data |