The UMD-APC mutations database
Mutation c.IVS9+27G>A (c.1312+27G>A)


Splice site type Wild type sequence CV Mutant type sequence CV Variation (%)
Cryptic Acceptor?
TACATCGTAGTGCAT
43.3 _
TACATCGTAGAGCAT
72.3 _ *
40 %


     Data for this mutation

Co occurence of MLH1, MSH2, MSH6, MUTYH and APC mutations (Pathogenic mutations, Unclassified variants, Non-pathogenic variation)
Sample IDAPCMLH1MSH2MSH6MUTYH
19_13817---13817.001-----
19_13969---13969.001-----
19_15089---15089-001-----

Complementary data about this mutation
AnalysisResult DateOriginPMID/dbSNP
Co-occurrenceSMAD4: c.1479_1481del, p.Asp494del19/09/1319
Ex vivo analysisSplicing reporter minigene pCas: normal splicing19/09/1319


Biological significanceDate Comment
Neutral19/09/13---