Splice site type | Wild type sequence | CV | Mutant type sequence | CV | Variation (%) | |||||
TACATCGTAGTGCAT |
| TACATCGTAGAGCAT |
| 40 % |
Data for this mutation
Sample ID | APC | MLH1 | MSH2 | MSH6 | MUTYH |
---|---|---|---|---|---|
19_13817---13817.001 | - | - | - | - | - |
19_13969---13969.001 | - | - | - | - | - |
19_15089---15089-001 | - | - | - | - | - |
Analysis | Result | Date | Origin | PMID/dbSNP |
---|---|---|---|---|
Co-occurrence | SMAD4: c.1479_1481del, p.Asp494del | 19/09/13 | 19 | |
Ex vivo analysis | Splicing reporter minigene pCas: normal splicing | 19/09/13 | 19 |
Biological significance | Date | Comment |
---|---|---|
Neutral | 19/09/13 | --- |