Variation name (cDNA level) | Variation name (protein level) | Variation status |
c.IVS8+30A>G (c.933+30A>G) |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
AAG | Lys | spl+30 | Spl. | A>G |
Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
At the mRNA level | On restriction map |
New restriction site(s): none Lost restriction site(s): none |
Impact on splicing | ||||||||||
Splice site type | Wild type sequence | CV | Mutant type sequence | CV | Variation (%) | |||||
CCTGGTCACTAATGC |
| CCTGGTCACTAGTGC |
| 38.7 % |
Sample ID | Patient status |
33_PSL3243---10-1056 | Relative |
Symptom |
Reference ID | Reference |
33 | Unpublished data |