| Splice site type | Wild type sequence | CV | Mutant type sequence | CV | Variation (%) | |||||
| actttcttttagGA |
| atcttttagGAAAA |
| -44.4 % |
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Data for this mutation
| Sample ID | MSH2 | MLH1 | MSH6 | MUTYH | APC |
|---|---|---|---|---|---|
| 14_NANTES?_04C065_04C065 | - | - | - | - | - |
| Analysis | Result | Date | Origin | PMID/dbSNP |
|---|---|---|---|---|
| MMR function in tumor cells | MSS | 12/06/14 | 31 (Montpellier) | |
| Clinical phenotype | Sporadic colorectal cancer < 50 years old | 12/06/14 | 14 (Nantes) | |
| Ex vivo analysis | Splicing reporter minigene pCAS: normal splicing | 27/03/09 | 19 (INSERM U1079-Rouen) |
| Biological significance | Date | Comment |
|---|---|---|
| Neutral | 13/12/11 | --- |