The UMD-MSH2 mutations database
Mutation c.279_281delTCT

     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
2_02-DDM6018_24616_24616	c.638_639delTG (p.Leu213GlnfsX18)	-	-	-	-
6_609051_B67182_S6550	-	-	-	-	-
8_F1020_B041236_04-0796	-	-	-	-	-

Complementary data about this mutation

Analysis	Result	Date	Origin	PMID/dbSNP
Clinical phenotype	Amsterdam II + (DDM6018)	16/12/14	2 (Villejuif)	---
MMR function in tumor cells	MSH2-MSH6- (DDM6018-24616)	28/03/11	2 (Villejuif)	---
Ex vivo analysis	Splicing reporter minigene pCAS: normal splicing (loss of a cryptic splicing site in exon 2)	7/06/07	19 (INSERM U1079-Rouen)	---
Co-occurrence	MSH2 : c.638_639del, p.Leu213GlnfsX18 (DDM6018-24616)	28/03/11	2 (Villejuif)	---

Biological significance	Date	Comment
UV	9/07/15	---