The UMD-MSH2 mutations database
Mutation
c.IVS5+3A>C (c.942+3A>C)
| Splice site type | Wild type sequence | CV | Mutant type sequence | CV | Variation (%) |
| Donor | CAGgtaaaa | | CAGgtcaaa | | -18.2 % |
Data for this mutation
Co occurence of MLH1, MSH2, MSH6, MUTYH and APC mutations (Pathogenic mutations, Unclassified variants, Non-pathogenic variation)| Sample ID | MSH2 | MLH1 | MSH6 | MUTYH | APC |
|---|
| 4_11194267663654 | - | - | - | - | - |
Complementary data about this mutation| Analysis | Result | Date | Origin | PMID/dbSNP | | In vitro analysis | RT-PCR : loss of exon 5 | 26/03/12 | 4 (Lyon) | --- |
| Clinical phenotype | Amsterdam I+ | 26/03/12 | 4 (Lyon) | --- |
| Biological significance | Date | Comment | | Causal | 26/03/12 | --- |