Variation name (cDNA level) | Variation name (protein level) | Variation status |
c.IVS3+2T>A (c.422+2T>A) |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
AGG | Arg | spl+2 | Spl. | T>A |
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 (%) | |||||
GAGtaactt |
| GAGtaactt |
| 0 % |
Sample ID | Patient status |
SO_-347818818 | Relative |
Symptom |
Reference ID | Reference |
71 | Unpublished data |