| Splice site type | Wild type sequence | CV | Mutant type sequence | CV | Variation (%) | |||||
| tatgtgtat |
| tatgtgtgt |
| 15.8 % |
![]() |
Data for this mutation
| Sample ID | MSH2 | MLH1 | MSH6 | MUTYH | APC |
|---|---|---|---|---|---|
| 2_02-NJ21_718_718 | c.2009C>T (p.Pro670Leu) | - | c.IVS1+22C>G (c.260+22C>G) c.IVS2+52T>A (c.457+52T>A) c.186C>A (p.Arg62Arg) c.276A>G (p.Pro92Pro) c.540T>C (p.Asp180Asp) | - | - |
| Analysis | Result | Date | Origin | PMID/dbSNP |
|---|---|---|---|---|
| Co-occurrence | MSH6:c.755C>A, p.Ser252X (Patient A) | 19/09/09 | 2 (Villejuif) | |
| Ex vivo analysis | Splicing reporter minigene pCAS: normal splicing | 29/09/09 | 19 (INSERM U1079-Rouen) |
| Biological significance | Date | Comment |
|---|---|---|
| Neutral | 29/09/09 | --- |