The UMD-MSH2 mutations database
Mutation c.IVS2-46delC (c.367-46delC)


Splice site type Wild type sequence CV Mutant type sequence CV Variation (%)
Cryptic Donor?
aagagtttg
17.3 _
agagtttgt
69.8 _ *
75.2 %


     Data for this mutation

Co occurence of MLH1, MSH2, MSH6, MUTYH and APC mutations (Pathogenic mutations, Unclassified variants, Non-pathogenic variation)
Sample IDMSH2MLH1MSH6MUTYHAPC
2_DDM118142136215019468-c.546_677del (p.Tyr183_Arg226del)---

Biological significanceDate Comment
UV11/09/15---