Variation name (cDNA level) | Variation name (protein level) | Variation status |
c.IVS2-1G>C (c.221-1G>C) |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
GAG | Glu | spl-1 | Spl. | G>C |
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 (%) | |||||
tattttatttagAG |
| tattttatttacAG |
| -36.4 % |
Sample ID | Patient status |
7_9540812034E081958 | Relative |
Symptom |
Reference ID | Reference |
7 | Unpublished data |