The UMD-APC mutations database
Mutation c.IVS5-1G>A (c.646-1G>A)


Splice site type Wild type sequence CV Mutant type sequence CV Variation (%)
Acceptor
gttttattttagCG
79.9 _
gttttattttaaCG
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
37_P03.01-E1531--------
37_P03.01-E1724--------

Biological significanceDate Comment
Causal28/05/14---