| Splice site type | Wild type sequence | CV | Mutant type sequence | CV | Variation (%) | |||||
| tccccccctaagAG |
| tccccctctaagAG |
| -0.8 % |
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Data for this mutation
| Analysis | Result | Date | Origin | PMID |
|---|---|---|---|---|
| p. | causal | 1/01/01 | Roijers and al., 2000 |
| Biological significance | Date | Comment |
|---|---|---|
| 4- Likely Causal | 4/01/16 | coccurence cis with c.1252G>A in 02-GE04-J15S-954 |