Variation name (cDNA level) | Variation name (protein level) | Variation status |
c.IVS12+1G>A (c.1626+1G>A) |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
CAG | Gln | spl+1 | Spl. | G>A |
Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
ASEF binding domain ARM2 |
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 (%) | |||||
CAGtactat |
| CAGaactat |
| 0 % |
Sample ID | Patient status |
7_8548810395E080574 | Relative |
Symptom |
Reference ID | Reference |
7 | Unpublished data |