The UMD-MSH2 mutations database
Mutation c.2633_2634delAG

     Data for this mutation

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

Sample ID	MSH2	MLH1	MSH6	MUTYH	APC
19_2807228072-00128072-001	-	-	-	-	-
19_2807228072-00228072-002	-	-	-	-	-
5_2004041_20013672_AAA882	-	-	-	-	-
5_2004041_20050741_AAA622	-	-	-	-	-
5_2004041_20062113_AAB216	-	-	-	-	-
5_2004041_20062114_AAB222	-	-	-	-	-
5_2004041_P0024840_AAA113	-	-	-	-	-

Complementary data about this mutation

Analysis	Result	Date	Origin	PMID/dbSNP
Clinical phenotype	Index case (28072-001) : 4 focal colon adenocarcinomas at the age of 64. Son (28072-002) : right colon cancer at the age of 42	25/09/15	19 (Rouen)	---
MMR function in tumor cells	MSI / MSH2-MSH6- (28072-001)	25/09/15	19 (Rouen)	---
MMR function in tumor cells	MSI / MSH6- (28072-002)	25/09/15	19 (Rouen)	---

Biological significance	Date	Comment
Causal	21/02/14	---