Variation name (cDNA level) | Variation name (protein level) | Variation status |
c.1050C>T | p.Leu350Leu |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
CTC | Leu | CTT | Leu | C->T | Ts |
Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
Lever | Yes, 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) |
---|---|---|
1 | 1.00 (non pathogenous) | 23 (Polymorphism) |
Sample ID | Patient status |
19_2856428564-00128564-001 | Relative |
Symptom |
Reference ID | Reference |
19 | Unpublished data |