The UMD-MSH2 mutations database
Mutation c.970C>T



     Data for this mutation

Co occurence of MLH1, MSH2, MSH6, MUTYH and APC mutations (Pathogenic mutations, Unclassified variants, Non-pathogenic variation)
Sample IDMSH2MLH1MSH6MUTYHAPC
19_11134_11134-001_11134------
4_JCS1224293554272-----
5_2013240AAH587-----
7_-2515---E050131-----
7_-25153317E050131-----
SO_-2515---G01996-----
SO_-2515---G01997-----
SO_-2515---G02001-----
SO_-2515---G03246-----
SO_-2515---G03410-----
SO_-4670---G07010-----

Complementary data about this mutation
AnalysisResult DateOriginPMID/dbSNP
MMR function in tumor cellsMSI-H / MSH2-MSH6- (2013240-AAH587)13/06/145 (Bordeaux)
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Clinical phenotypeColorectal cancer at the age of 32 (family history of cancers) (JCS1224)17/03/154 (Lyon)
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Biological significanceDate Comment
Causal21/02/14---