| Splice site type | Wild type sequence | CV | Mutant type sequence | CV | Variation (%) | |||||
| AAGgtgggg |
| AAGatgggg |
| -30.6 % |
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Data for this mutation
| Analysis | Result | Date | Origin | PMID |
|---|---|---|---|---|
| p. | causal | 1/01/01 | [Mutch and al., 1999] |
| Biological significance | Date | Comment |
|---|---|---|
| 5- Causal | 17/12/15 | Splicing impact:exon 6 skipping (cDNA sequencing , unpublished data) |