Variation name (cDNA level) | Variation name (protein level) | Variation status |
c.IVS9+3A>G (c.1312+3A>G) |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
ATG | Met | spl+3 | 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 (%) | |||||
CAAtatgtt |
| CAAtaggtt |
| 7.3 % |
Sample ID | Patient status |
SO_-2306G01226G01226 | Relative |
Symptom |
Reference ID | Reference |
71 | Unpublished data |