TheUMD-MLH1 mutations database
Large rearrangement: c.546_677del (deletion from exon 7 to 8)

Data for this mutation

Co occurence of MLH1, MSH2, MSH6, MUTYH and APC mutations (Pathogenic mutations, Unclassified variants, Non-pathogenic variation)

Sample ID	MLH1	MSH2	MSH6	MUTYH	APC
2_DDM118142136215019468	-	c.2-46delC (c.367-46delC)	-	-	-

Complementary data about this mutation

Analysis	Result	Date	Origin	PMID/dbSNP
MMR function in tumor cells	MSI-H / MLH1-PMS2- (DDM1181-42136)	1/09/15	2 (Villejuif)	---
Co-occurrence	MLH1:c.646-46del, p.? (DDM1181-42136)	1/09/15	2 (Villejuif)	---
Clinical phenotype	Index case (DDM1181-42136) : colon cancer at the age of 50. Maternal grandmother : liver cancer at the age of 80. Great maternal grandfather : liver cancera t the age of 73.	1/09/15	2 (Villejuif)	---

Biological significance	Date	Comment
Causal	9/09/15	---

Consequences of the mutation at the protein level No data available