Splice site type | Wild type sequence | CV | Mutant type sequence | CV | Variation (%) | |||||
ttttcctgacagTT |
| ttttcctgacacTT |
| -31.9 % |
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Data for this mutation
Sample ID | MLH1 | MSH2 | MSH6 | MUTYH | APC |
---|---|---|---|---|---|
14_CCS NANTES13C129113C1291 | - | - | - | - | - |
Analysis | Result | Date | Origin | PMID/dbSNP |
---|---|---|---|---|
MMR function in tumor cells | MSI (no hypermethylation of MLH1 promoter) / MLH1- (ICO ANGERS-14C0743) | 29/05/15 | 14 (Nantes) | |
MMR function in tumor cells | MSI (no hypermethylation of MLH1 promoter) / MLH1- (father) | 29/05/15 | 14 (Nantes) |
Biological significance | Date | Comment |
---|---|---|
Causal | 22/06/15 | --- |