| Variation name (cDNA level) | Variation name (protein level) | Variation status |
| c.IVS8-72G>A (c.1387-72G>A) |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GTG | Val | spl-72 | Spl. | G>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 (%) | |||||
| ttaagtgggaggaaa |
| ttaagtgggaAgaaa |
| 41.6 % | ||||||
| Sample ID | Patient status |
| 31_H1840H1840-1H1840-1A | Relative |
| Symptom |
| Reference ID | Reference |
| 31 | Unpublished data |