| Splice site type | Wild type sequence | CV | Mutant type sequence | CV | Variation (%) | |||||
| GAGgtttgt |
| GAGgttttt |
| -14.6 % |
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Data for this mutation
| Sample ID | MSH2 | MLH1 | MSH6 | MUTYH | APC |
|---|---|---|---|---|---|
| 19_13815_13815-001_13815- | - | - | - | - | - |
| 19_13815_13815-002_13815- | - | - | - | - | - |
| 19_13815_13815-003_13815- | - | - | - | - | - |
| 19_13815_13815-004_13815- | - | - | - | - | - |
| 19_2428724287.00124287.001 | - | - | - | - | - |
| SO_-5446---G08403 | - | - | - | - | - |
| Analysis | Result | Date | Origin | PMID/dbSNP |
|---|---|---|---|---|
| Ex vivo analysis | Splicing reporter minigene pCAS: major loss of exon 15 | 6/02/07 | 19 (INSERM U1079-Rouen) | |
| MMR function in tumor cells | MSH2- (patient A) | 23/09/04 | SO (Marseille) |
| Biological significance | Date | Comment |
|---|---|---|
| Likely Causal | 28/01/13 | --- |