The UMD-MSH2 mutations database
Mutation c.1676delT



     Data for this mutation

Co occurence of MLH1, MSH2, MSH6, MUTYH and APC mutations (Pathogenic mutations, Unclassified variants, Non-pathogenic variation)
Sample IDMSH2MLH1MSH6MUTYHAPC
19_17215_17215-001_17215------
41_HNPCC036_HNPCC036001_------
7_-6042---E051173-c.52C>T (p.Arg18Cys)---
7_-60424485E051173c.IVS1+9C>G (c.211+9C>G)
c.IVS10+12G>A (c.1661+12G>A)
c.IVS12-6T>C (c.2006-6T>C)
c.IVS14-19A>G (c.1668-19A>G)
c.52C>T (p.Arg18Cys)
c.655A>G (p.Ile219Val)
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8_F31991796608-500011BA-c.IVS9+10A>G (c.790+10A>G)---
SO_-4778---G07163-----

Complementary data about this mutation
AnalysisResult DateOriginPMID/dbSNP
Clinical phenotypeAmsterdam II+ (F3199-17966)27/04/128 (Nancy)
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Clinical phenotypeMLH1 : c.790+10A>G; p.? (F3199-17966)27/04/128 (Nancy)
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Biological significanceDate Comment
Causal21/02/14---