TheUMD-MSH2 mutations database
Large rearrangement: c.1_645del (deletion from exon 1 to 3)

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_10835_10835-001_10835-	-	-	-	-	-
19_2603826038-00126038-001	-	c.474C>T (p.Asn158Asn)	-	-	-

Complementary data about this mutation

Analysis	Result	Date	Origin	PMID/dbSNP
Co-occurrence	MLH1 : c.474C>T, p.= (26038-001)	17/04/15	19 (Rouen)	---
Clinical phenotype	Two colon cancers at the age of 48 (26038-001)	17/04/15	19 (Rouen)	---
MMR function in tumor cells	MSI / MSH2-MSH6- (26038-001, 2 tumors)	17/04/15	19 (Rouen)	---

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

Consequences of the mutation at the protein level No data available