The UMD-APC mutations database
Mutation c.IVS10-6A>G (c.1409-6A>G)


Splice site type Wild type sequence CV Mutant type sequence CV Variation (%)
Cryptic Acceptor?
TGCCCTTTTTAAATT
53 _
TGCCCTTTTTAGATT
81.9 _ *
35.3 %


     Data for this mutation

Co occurence of MLH1, MSH2, MSH6, MUTYH and APC mutations (Pathogenic mutations, Unclassified variants, Non-pathogenic variation)
Sample IDAPCMLH1MSH2MSH6MUTYH
19_25083---25083-001-----
33_SAT554---10-601-----
7_-802ILP0611335E061265-----
7_-802ILP0711063E071187-----
SO_-802G04527G04527-----
SO_-802G04528G04528-----

Complementary data about this mutation
AnalysisResult DateOriginPMID/dbSNP
Cosegregation analysisLOD score: 1,222/07/137
Ex vivo analysisSplicing reporter minigene pCas: insertion of 5 nt of intron 1022/07/1319


Biological significanceDate Comment
Causal22/07/13---