| Splice site type | Wild type sequence | CV | Mutant type sequence | CV | Variation (%) | |||||
| aatttcttatagGT |
| aattgcttatagGT |
| -2.3 % |
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Data for this mutation
| Sample ID | MSH2 | MLH1 | MSH6 | MUTYH | APC |
|---|---|---|---|---|---|
| 6_606058_200600376_S8890 | - | - | - | - | - |
| Analysis | Result | Date | Origin | PMID/dbSNP |
|---|---|---|---|---|
| In vitro analysis | RT-PCR : loss of exon 16 (IGR) | 20/09/10 | 6 (Toulouse) | |
| MMR function in tumor cells | MSH2-MSH6- | 20/09/10 | 6 (Toulouse) |
| Biological significance | Date | Comment |
|---|---|---|
| Causal | 13/12/11 | --- |