The UMD-APC mutations database
Mutation
c.IVS2-2A>G (c.221-2A>G)
Splice site type | Wild type sequence | CV | Mutant type sequence | CV | Variation (%) |
Acceptor | tattttatttagAG | | tattttatttggAG | | -36.4 % |
Data for this mutation
Co occurence of MLH1, MSH2, MSH6, MUTYH and APC mutations (Pathogenic mutations, Unclassified variants, Non-pathogenic variation)Sample ID | APC | MLH1 | MSH2 | MSH6 | MUTYH |
---|
10_APC-204---3154 P | - | - | - | - | - |
33_SAT289---08-1544 | - | - | - | - | - |
33_SAT289---08-206 | - | - | - | - | - |
33_SAT289---09-1431 | - | - | - | - | - |
33_SAT289---09-1432 | - | - | - | - | - |
7_10756911484E091893 | - | - | - | - | - |
Biological significance | Date | Comment | Causal | 28/05/14 | --- |