| Splice site type | Wild type sequence | CV | Mutant type sequence | CV | Variation (%) | |||||
| catgtgtttcagCA |
| catgtgttttagCA |
| -9.3 % |
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Data for this mutation
| Sample ID | MSH2 | MLH1 | MSH6 | MUTYH | APC |
|---|---|---|---|---|---|
| 6_601146_20063661_S7476 | - | - | - | - | - |
| Analysis | Result | Date | Origin | PMID/dbSNP |
|---|---|---|---|---|
| Clinical phenotype | Amsterdam I - (late-onset Lynch-related tumors) | 20/09/10 | 6 (Toulouse) | |
| MMR function in tumor cells | MSI / MSH2-MSH6- | 20/09/10 | 6 (Toulouse) |
| Biological significance | Date | Comment |
|---|---|---|
| UV | 22/09/09 | --- |