The UMD-APC mutations database
Mutation
c.IVS2-1G>A (c.221-1G>A)
| Splice site type | Wild type sequence | CV | Mutant type sequence | CV | Variation (%) |
| Acceptor | tattttatttagAG | | tattttatttaaAG | | -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-140---213P | - | - | - | - | - |
| 33_PSL1416---07-1379 | - | - | - | - | - |
| 7_-4437ILP0510548E050412 | - | - | - | - | - |
| SO_-1852G00594G00594 | - | - | - | - | - |
| SO_-1852G01319G01319 | - | - | - | - | - |
| SO_-1852G01320G01320 | - | - | - | - | - |
| SO_-1852G01321G01321 | - | - | - | - | - |
| SO_-1852G01322G01322 | - | - | - | - | - |
| SO_-1852G08987G08987 | - | - | - | - | - |
| SO_-3772G05187G05187 | - | - | - | - | - |
| SO_-4437G06570G06570 | - | - | - | - | - |
| SO_-5414G08326G08326 | - | - | - | - | - |
| SO_-5414G09001G09001 | - | - | - | - | - |
| Biological significance | Date | Comment | | Causal | 28/05/14 | --- |
