The UMD-MLH1 mutations database
Mutation c.IVS4+61T>C (c.380+61T>C)



     Data for this mutation

Co occurence of MLH1, MSH2, MSH6, MUTYH and APC mutations (Pathogenic mutations, Unclassified variants, Non-pathogenic variation)
Sample IDMLH1MSH2MSH6MUTYHAPC
2_OCN1199439157214139448--c.[1417C>-1418T>-1419G>-] (p.Leu473)--

Complementary data about this mutation
AnalysisResult DateOriginPMID/dbSNP
Clinical phenotypeIndex case (OCN11994-39157) : small intestine leiomyosarcoma at the age of 55 + lung cancer at the age of 56 + colon cancer at the age of 70 + endometrium cancer at the age of 81. Son : bladder cancer at the age of 53. Brother : colon cancer at the age of 83.1/09/152 (Villejuif)
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MMR function in tumor cellsMSI-H / MSH6- (OCN11994-39157 endometrium)1/09/152 (Villejuif)
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Co-occurrenceMSH6:c.1417C>G, p.Leu473Val (OCN11994-39157)1/09/152 (Villejuif)
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Biological significanceDate Comment
UV9/09/15---