The UMD-MSH6 mutations database
Mutation c.3762_3764delAGA

     Data for this mutation

Co occurence of MLH1, MSH2, MSH6, MUTYH and APC mutations (Pathogenic mutations, Unclassified variants, Non-pathogenic variation)

Sample ID	MSH6	MLH1	MSH2	MUTYH	APC
2_OCN1239940696214255402	c.3226C>T (p.Arg1076Cys) c.3226C>T (p.Arg1076Cys)	-	-	-	-

Complementary data about this mutation

Analysis	Result	Date	Origin	PMID/dbSNP
MMR function in tumor cells	MSI-L / MSH6+ (focal) (OCN12399-40696)	1/09/15	2 (Villejuif)	---
Clinical phenotype	Index case : colon cancer at the age of 21 (OCN12399-40696). Mother : lung cancer at the age of 62. Maternal grandfather : colon cancer at the age of 71. Maternal cousin : colon cancer	1/09/15	2 (Villejuif)	---
Co-occurrence	MSH6:c.3226C>T, p.Arg1076Cys (OCN12399-40696)	1/09/15	2 (Villejuif)	---

Biological significance	Date	Comment
UV	9/09/15	---