The UMD-MSH2 mutations database
Mutation c.812_813delCT

     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_12604_12604-001_12604-	-	-	-	-	-
19_12604_12604-005_12604-	-	-	-	-	-
19_1948719487-00219487-002	-	-	-	-	-
19_2801128011-00128011-001	-	-	-	-	-
8_449896346108-117131EGS	-	-	-	-	-
8_44989_80751_08-417121EG	-	-	-	-	-

Complementary data about this mutation

Analysis	Result	Date	Origin	PMID/dbSNP
Clinical phenotype	Left colon cancer at the age of 35 (28011-001)	17/04/15	19 (Rouen)	---
Clinical phenotype	Glioblastoma at the age of 19 (19487-002). Father : colon polyps. Paternal uncle : colon cancer at the age of 35	17/04/15	19 (Rouen)	---
MMR function in tumor cells	MSS / MSH2-MSH6- (19487-002)	17/04/15	19 (Rouen)	---
MMR function in tumor cells	MSI / MSH2-MSH6- (28011-001)	17/04/15	19 (Rouen)	---

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