The UMD-MSH2 mutations database
Mutation c.IVS3-1G>C (c.646-1G>C)


Splice site type Wild type sequence CV Mutant type sequence CV Variation (%)
Acceptor
ctttcaaaatagAT
77.8 _
ctttcaaaatacAT
48.9 _ *
-37.2 %


     Data for this mutation

Co occurence of MLH1, MSH2, MSH6, MUTYH and APC mutations (Pathogenic mutations, Unclassified variants, Non-pathogenic variation)
Sample IDMSH2MLH1MSH6MUTYHAPC
19_11219_11219-001_11219------
19_11219_11219-002_11219------
4_H-JCS0408_17830_1094-----

Biological significanceDate Comment
Causal21/02/14---