The UMD-MSH2 mutations database
Mutation c.454delA



     Data for this mutation

Co occurence of MLH1, MSH2, MSH6, MUTYH and APC mutations (Pathogenic mutations, Unclassified variants, Non-pathogenic variation)
Sample IDMSH2MLH1MSH6MUTYHAPC
20_20-47794779-54--------
37_L04.10_2211_22615-----
37_L04.10_3131_33787-----
37_L04.10_3132_33789-----
37_L04.10_3133_33790-----
37_L04.10_3135_33796-----
37_L08.049_6958_65993-----
37_L08.049_9112_79514-----

Complementary data about this mutation
AnalysisResult DateOriginPMID/dbSNP
Clinical phenotypeIndex case (20-4779-54) : colorectal cancer at the age of 25 and ovarian cancer at the age of 42. Father : colorectal cancer at the age of 43. Nephew : colorectal cancer at the age of 34. Brother : prostatic cancer at the age of 55. Sister : glioma at the age of 35. Great-nephew : glioma at the age of 827/08/1520 (Clermont-Ferrand)
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Biological significanceDate Comment
Causal21/02/14---