| Splice site type | Wild type sequence | CV | Mutant type sequence | CV | Variation (%) | |||||
| AAGgtaaca |
| AAGgaaaca |
| -31.7 % |
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Data for this mutation
| Sample ID | MSH2 | MLH1 | MSH6 | MUTYH | APC |
|---|---|---|---|---|---|
| 17_F96015__2731 | - | - | - | - | - |
| 31_H1179_H1179-1_H1179-1A | - | - | - | - | |
| 31_H1179_H1179-1_H1179-1B | - | - | - | - | - |
| 4_H95H007_17764_600 | - | - | - | - | - |
| 4_JCS1403333444958 | - | - | - | - | - |
| Analysis | Result | Date | Origin | PMID/dbSNP |
|---|---|---|---|---|
| MMR function in tumor cells | MSI-H / MSH2-MSH6- (JCS1403-33344) | 17/03/15 | 4 (Lyon) |
| Biological significance | Date | Comment |
|---|---|---|
| Causal | 21/02/14 | --- |