The UMD-MLH1 mutations database
Mutation c.IVS10-1G>C (c.885-1G>C)


Splice site type Wild type sequence CV Mutant type sequence CV Variation (%)
Acceptor
ttttcctgacagTT
90.9 _
ttttcctgacacTT
61.9 _ *
-31.9 %


     Data for this mutation

Co occurence of MLH1, MSH2, MSH6, MUTYH and APC mutations (Pathogenic mutations, Unclassified variants, Non-pathogenic variation)
Sample IDMLH1MSH2MSH6MUTYHAPC
14_CCS NANTES13C129113C1291-----

Complementary data about this mutation
AnalysisResult DateOriginPMID/dbSNP
MMR function in tumor cellsMSI (no hypermethylation of MLH1 promoter) / MLH1- (ICO ANGERS-14C0743)29/05/1514 (Nantes)
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MMR function in tumor cellsMSI (no hypermethylation of MLH1 promoter) / MLH1- (father)29/05/1514 (Nantes)
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Biological significanceDate Comment
Causal22/06/15---