The UMD-MSH6 mutations database
Mutation c.1191T>A



     Data for this mutation

Co occurence of MLH1, MSH2, MSH6, MUTYH and APC mutations (Pathogenic mutations, Unclassified variants, Non-pathogenic variation)
Sample IDMSH6MLH1MSH2MUTYHAPC
8_4594810047008-577051c.3940C>G (p.Gln1314Glu)----
8_4594810047108-477051c.3940C>G (p.Gln1314Glu)----
8_459488591408-846131EGSc.3940C>G (p.Gln1314Glu)----

Complementary data about this mutation
AnalysisResult DateOriginPMID/dbSNP
Co-occurrenceMSH6:c.3940C>G, p.Gln1314Glu (45948-100471, 45948-100470, 45948-85914)25/09/158 (Nancy)
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MMR function in tumor cellsIndex case (45948-85914) : endometrium cancer at the age of 43. Paternal aunt : endometrium cancer at the age of 69. Paternal aunt : bladder + intestine cancers at the age of 60. Paternal grandmother : kidney cancer. Paternal great-aunt : uterine cancer25/09/158 (Nancy)
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Clinical phenotypeMSI-H / MSH6- (45948-85914)25/09/158 (Nancy)
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Biological significanceDate Comment
Causal25/09/15---