| Splice site type | Wild type sequence | CV | Mutant type sequence | CV | Variation (%) | |||||
| GAGgtatgt |
| GAGgtattt |
| -13.8 % |
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Data for this mutation
| Sample ID | MSH2 | MLH1 | MSH6 | MUTYH | APC |
|---|---|---|---|---|---|
| 19_2459224592-00124592-001 | c.IVS9-29T>C (c.1511-29T>C) | - | - | - | - |
| Analysis | Result | Date | Origin | PMID/dbSNP |
|---|---|---|---|---|
| Co-occurrence | MSH2 : c.1511-29T>C (24592-001) | 17/04/15 | 19 (Rouen) | |
| Clinical phenotype | Sporadic colon cancer at the age of 32 (24592-001) | 17/04/15 | 19 (Rouen) |
| Biological significance | Date | Comment |
|---|---|---|
| UV | 23/04/15 | --- |