Data for this mutation
| Sample ID | MSH2 | MLH1 | MSH6 | MUTYH | APC |
|---|---|---|---|---|---|
| 2_PLP-HEGP EXT57_15605_15 | - | - | - | - | - |
| 41_HNPCC109_HNPCC109001_- | c.2014_2033del (p.Met672TyrfsX20) | - | - | - | - |
| Analysis | Result | Date | Origin | PMID/dbSNP |
|---|---|---|---|---|
| Co-occurrence | MSH2 : c.2014_2033del, p.Met672TyrfsX20 (HNPCC109-001) | 25/06/15 | 41 (HEGP) | |
| Clinical phenotype | Amsterdam II + | 10/12/12 | 41 (HEGP) | |
| MMR function in tumor cells | MSH2- | 10/12/12 | 41 (HEGP) | |
| Ex vivo analysis | Splicing reporter minigene pCAS: normal splicing | 23/03/12 | 19 (INSERM U1079-Rouen) |
| Biological significance | Date | Comment |
|---|---|---|
| Likely Causal | 9/07/15 | --- |