The UMD-MSH2 mutations database
Mutation c.IVS7-67A>G (c.1277-67A>G)


Splice site type Wild type sequence CV Mutant type sequence CV Variation (%)
Cryptic Acceptor?
tatctcagtcaaaat
53.7 _
tatctcagtcaGaat
82.7 _ *
35 %


     Data for this mutation

Co occurence of MLH1, MSH2, MSH6, MUTYH and APC mutations (Pathogenic mutations, Unclassified variants, Non-pathogenic variation)
Sample IDMSH2MLH1MSH6MUTYHAPC
2_02-ACT3042_19355_19355c.IVS7+51C>A (c.1276+51C>A)
c.573C>T (p.Leu191Leu)
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Complementary data about this mutation
AnalysisResult DateOriginPMID/dbSNP
Ex vivo analysisSplicing reporter minigene pCAS: normal splicing19/03/0919 (INSERM U1079-Rouen)
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Biological significanceDate Comment
Neutral13/12/11---