| Splice site type | Wild type sequence | CV | Mutant type sequence | CV | Variation (%) | |||||
| gtgattttg |
| gtggttttg |
| 41 % |
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Data for this mutation
| Sample ID | MSH2 | MLH1 | MSH6 | MUTYH | APC |
|---|---|---|---|---|---|
| 19_14769_14769-001_14769- | c.336C>A (p.Ser112Ser) | - | - | - | - |
| Analysis | Result | Date | Origin | PMID/dbSNP |
|---|---|---|---|---|
| Co-occurrence | MSH2 : c.336C>A, p.= | 26/09/11 | 19 (Rouen) | |
| Ex vivo analysis | Splicing reporter minigene pCAS: normal splicing | 26/09/11 | 19 (INSERM U1079-Rouen) |
| Biological significance | Date | Comment |
|---|---|---|
| Neutral | 26/09/11 | --- |