The UMD-APC mutations database
Mutation c.IVS5-2A>T (c.646-2A>T)


Splice site type Wild type sequence CV Mutant type sequence CV Variation (%)
Acceptor
gttttattttagCG
79.9 _
gttttatttttgCG
51 _ *
-36.2 %


     Data for this mutation

Co occurence of MLH1, MSH2, MSH6, MUTYH and APC mutations (Pathogenic mutations, Unclassified variants, Non-pathogenic variation)
Sample IDAPCMLH1MSH2MSH6MUTYH
10_APC-143---1216P-----
10_APC-143---3469 P-----
37_P11.027-E16922RNA11660-----
SO_-1072G00724G00724-----

Biological significanceDate Comment
Causal28/05/14---