Variation name (cDNA level) | Variation name (protein level) | Variation status |
c.913G>A | p.Ala305Thr |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
GCA | Ala | ACA | Thr | G->A | Ts |
Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
Lever | 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) |
---|---|---|
0.99 | 0.00 (pathogenous) | 76 (Pathogenous) |
Sample ID | Patient status |
19_2746127461-00127461-001 | Relative |
Symptom |
Reference ID | Reference |
19 | Unpublished data |