Splice site type | Wild type sequence | CV | Mutant type sequence | CV | Variation (%) | |||||
aatttatttcagAT |
| aaattatttcagAT |
| -3.8 % |
Data for this mutation
Sample ID | MSH2 | MLH1 | MSH6 | MUTYH | APC |
---|---|---|---|---|---|
20_20-27472747-01--- | - | - | - | - | - |
Analysis | Result | Date | Origin | PMID/dbSNP |
---|---|---|---|---|
Clinical phenotype | Index case : appendix cancer at the age of 31 (20-2747-01). Maternal grandmother : colorectal cancer at the age of 73. | 28/08/15 | 20 (Clermont-Ferrand) |
Biological significance | Date | Comment |
---|---|---|
UV | 11/09/15 | --- |