The UMD-APC mutations database
Mutation c.IVS2-2A>G (c.221-2A>G)


Splice site type Wild type sequence CV Mutant type sequence CV Variation (%)
Acceptor
tattttatttagAG
79.6 _
tattttatttggAG
50.6 _ *
-36.4 %


     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-204---3154 P-----
33_SAT289---08-1544-----
33_SAT289---08-206-----
33_SAT289---09-1431-----
33_SAT289---09-1432-----
7_10756911484E091893-----

Biological significanceDate Comment
Causal28/05/14---