| Splice site type | Wild type sequence | CV | Mutant type sequence | CV | Variation (%) | |||||
| GGAgtgagg |
| GGAgtgaag |
| -15.3 % |
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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| 4- Likely Causal | 17/12/15 | Splicing impact: exon 7 skipping (cDNA sequencing , unpublished data |