The UMD-MLH1 mutations database
Mutation c.1408A>T



     Data for this mutation

Co occurence of MLH1, MSH2, MSH6, MUTYH and APC mutations (Pathogenic mutations, Unclassified variants, Non-pathogenic variation)
Sample IDMLH1MSH2MSH6MUTYHAPC
19_2932929329-00129329-001-----
20_20-63216321-01--------
4_Gr2004-12_18552_2807-----
5_20140312013006370AAI675-----
7_-3267---E050136-----
7_-32673515E050136-----
7_-32673758E050385-----
SO_-2484---G01944-----
SO_-2484---G08148-----
SO_-2484---G08159-----
SO_-3267---G03553-----
SO_-3267---G06735-----

Complementary data about this mutation
AnalysisResult DateOriginPMID/dbSNP
Clinical phenotypeSporadic Lynch-related cancer < 50 years old (Bethesda) (2014031-2013006370)5/08/155 (Bordeaux)
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MMR function in tumor cellsMSI / MLH1-MSH2+MSH6+PMS2- (2014031-2013006370)5/08/155 (Bordeaux)
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Clinical phenotypeAmsterdam II+. Endometrium cancer at the age of 45. Brother : colorectal cancer at the age of 70. Mother : colorectal cancer at the age of 67. Sister : asymptomatic variant-carrier (20-6321-01)27/08/1520 (Clermont-Ferrand)
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Clinical phenotypeIndex case (29329-001) : colon cancer at the age of 3624/09/1519 (Rouen)
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MMR function in tumor cellsMSI / MLH1-PMS2- (29329-001)24/09/1519 (Rouen)
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Biological significanceDate Comment
Causal14/02/14---