The UMD-MLH1 mutations database
Mutation c.IVS6-2A>T (c.546-2A>T)


Splice site type Wild type sequence CV Mutant type sequence CV Variation (%)
Acceptor
tttcttttccagGT
97.1 _
tttcttttcctgGT
68.2 _ *
-29.8 %


     Data for this mutation

Co occurence of MLH1, MSH2, MSH6, MUTYH and APC mutations (Pathogenic mutations, Unclassified variants, Non-pathogenic variation)
Sample IDMLH1MSH2MSH6MUTYHAPC
4_CH00158358695423-----

Complementary data about this mutation
AnalysisResult DateOriginPMID/dbSNP
MMR function in tumor cellsMSI-H / MLH1-PMS2- (CH00158-35869)26/08/154 (Lyon)
---


Biological significanceDate Comment
Causal11/09/15---