Variation name (cDNA level) | Variation name (protein level) | Variation status |
c.1175A>T | p.His392Leu |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
CAC | His | CTC | Leu | A->T | Tv |
Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
No | 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) |
---|---|---|
0.94 | 0.04 (pathogenous) | 92 (Pathogenous) |
Sample ID | Patient status |
SO_-1734G00215G00215 | Relative |
Symptom |
Reference ID | Reference |
71 | Unpublished data |