Data for this mutation
| Sample ID | MSH2 | MLH1 | MSH6 | MUTYH | APC |
|---|---|---|---|---|---|
| 19_17215_17215-001_17215- | - | - | - | - | - |
| 41_HNPCC036_HNPCC036001_- | - | - | - | - | - |
| 7_-6042---E051173 | - | c.52C>T (p.Arg18Cys) | - | - | - |
| 7_-60424485E051173 | c.IVS1+9C>G (c.211+9C>G) c.IVS10+12G>A (c.1661+12G>A) c.IVS12-6T>C (c.2006-6T>C) | c.IVS14-19A>G (c.1668-19A>G) c.52C>T (p.Arg18Cys) c.655A>G (p.Ile219Val) | - | - | - |
| 8_F31991796608-500011BA | - | c.IVS9+10A>G (c.790+10A>G) | - | - | - |
| SO_-4778---G07163 | - | - | - | - | - |
| Analysis | Result | Date | Origin | PMID/dbSNP |
|---|---|---|---|---|
| Clinical phenotype | Amsterdam II+ (F3199-17966) | 27/04/12 | 8 (Nancy) | |
| Clinical phenotype | MLH1 : c.790+10A>G; p.? (F3199-17966) | 27/04/12 | 8 (Nancy) |
| Biological significance | Date | Comment |
|---|---|---|
| Causal | 21/02/14 | --- |