The UMD-MSH2 mutations database
Mutation c.571_573delCTC

     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
17_130837917314001---	-	-	-	-	-
17_F06119_6003_---	-	c.65G>C (p.Gly22Ala)	-	-	-

Complementary data about this mutation

Analysis	Result	Date	Origin	PMID/dbSNP
Clinical phenotype	Multiple primary Lynch-related tumors (Muir-Torre)	18/09/12	17 (St-Cloud)	---
MMR function in tumor cells	MSI / MLH1+MSH2-MSH6-PMS2+ (2 tumors = colon + skin)	24/12/13	17 (St-Cloud)	---
Ex vivo analysis	Splicing reporter minigene pCAS: normal splicing	27/03/09	19 (INSERM U1079-Rouen)	---

Biological significance	Date	Comment
Causal	28/01/13	---