| Splice site type | Wild type sequence | CV | Mutant type sequence | CV | Variation (%) | |||||
| tccccccctaagAG |
| tcccccactaagAG |
| -4.2 % |
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Data for this mutation
| Analysis | Result | Date | Origin | PMID |
|---|---|---|---|---|
| p. | causal | 1/01/01 | Jager and al., 2006 |
| Biological significance | Date | Comment |
|---|---|---|
| 3- Uv | 4/01/16 | NC |