| Splice site type | Wild type sequence | CV | Mutant type sequence | CV | Variation (%) | |||||
| AAGgtaatt |
| AAGttaatt |
| -30.9 % |
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Data for this mutation
| Sample ID | MSH2 | MLH1 | MSH6 | MUTYH | APC |
|---|---|---|---|---|---|
| 37_E-L02.03_1395_10711 | - | - | - | - | - |
| 5_20003242_20031073_AAA33 | - | - | - | - | - |
| 5_2003242_20031073_AAA335 | - | - | - | - | - |
| 8_43911_76721_08-392311EG | - | - | - | - | - |
| Analysis | Result | Date | Origin | PMID/dbSNP |
|---|---|---|---|---|
| In vitro analysis | RT-PCR: complete loss of exon 2 | 9/12/13 | 5 (Bordeaux) |
| Biological significance | Date | Comment |
|---|---|---|
| Causal | 21/02/14 | --- |