Variation name (cDNA level) | Variation name (protein level) | Variation status |
c.IVS8+2T>C (c.933+2T>C) |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
AAG | Lys | spl+2 | Spl. | T>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 (%) | |||||
AAGtaacag |
| AAGtcacag |
| 0 % |
Sample ID | Patient status |
SO_-2255G01161G01161 | Relative |
Symptom |
Reference ID | Reference |
71 | Unpublished data |