Data for this mutation
| Sample ID | MSH2 | MLH1 | MSH6 | MUTYH | APC |
|---|---|---|---|---|---|
| 19_2645826458-00226458-002 | - | - | - | - | - |
| 19_2645826458-00326458-003 | - | - | - | - | - |
| 19_2645826458-00426458-004 | - | - | - | - | - |
| 19_2645826458.00126458.001 | - | - | - | - | - |
| 31_H1720H1720-1H1720-1A | - | - | - | - | - |
| 31_H664_H664-1_H664-1A | - | - | - | - | - |
| 4_C00034_---_415 | - | - | - | - | - |
| Analysis | Result | Date | Origin | PMID/dbSNP |
|---|---|---|---|---|
| Clinical phenotype | Enlarged Amsterdam I (H1720) | 24/10/14 | 31 (Montpellier) | |
| MMR function in tumor cells | MLH1+MSH2-MSH6-PMS2- (H1720-1) | 24/10/14 | 31 (Montpellier) | |
| MMR function in tumor cells | MSI / MLH1+MSH2+MSH6- (26458.001) | 5/08/14 | 19 (Rouen) | |
| Clinical phenotype | Amsterdam + (26458) | 5/08/14 | 19 (Rouen) |
| Biological significance | Date | Comment |
|---|---|---|
| Causal | 21/02/14 | --- |