TheUMD-MSH2 mutations database
Large rearrangement: c.367_1076del (deletion from exon 3 to 6)

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
37_L13.18523069152892	-	-	-	-	-
37_L13.18529996167540	-	-	-	-	-
5_200942320094739AAE890	-	-	-	-	-
8_F1481481108-940021BA	-	-	-	-	-
8_F1481_85787_08-986031EG	-	-	-	-	-
8_F1481_85997_08-958031EG	-	-	-	-	-

Complementary data about this mutation

Analysis	Result	Date	Origin	PMID/dbSNP
MMR function in tumor cells	MSI-H (F1481-4811)	27/04/12	8 (Nancy)	---
Clinical phenotype	Amsterdam II+ (F1481-4811)	27/04/12	8 (Nancy)	---

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

Consequences of the mutation at the protein level No data available