| Splice site type | Wild type sequence | CV | Mutant type sequence | CV | Variation (%) | |||||
| tatctcagtcaaaat |
| tatctcagtcaGaat |
| 35 % |
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Data for this mutation
| Sample ID | MSH2 | MLH1 | MSH6 | MUTYH | APC |
|---|---|---|---|---|---|
| 2_02-ACT3042_19355_19355 | c.IVS7+51C>A (c.1276+51C>A) c.573C>T (p.Leu191Leu) | - | - | - | - |
| Analysis | Result | Date | Origin | PMID/dbSNP |
|---|---|---|---|---|
| Ex vivo analysis | Splicing reporter minigene pCAS: normal splicing | 19/03/09 | 19 (INSERM U1079-Rouen) |
| Biological significance | Date | Comment |
|---|---|---|
| Neutral | 13/12/11 | --- |