| Splice site type | Wild type sequence | CV | Mutant type sequence | CV | Variation (%) | |||||
| AAGgtgggg |
| AAGttgggg |
| -30.6 % |
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Data for this mutation
| Biological significance | Date | Comment |
|---|---|---|
| 5- Causal | 17/12/15 | Splicing impact:exon 6 skipping (cDNA sequencing , unpublished data) |