The UMD-MSH2 mutations database
Mutation c.547C>T

     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
8_479399216108-758141	-	-	-	-	-

Complementary data about this mutation

Analysis	Result	Date	Origin	PMID/dbSNP
Clinical phenotype	Index case (47939-92161) : colon cancer at the age of 43. Father : colon cancer at the age of 30. Paternal grandmother : uterine cancer	25/09/15	8 (Nancy)	---
MMR function in tumor cells	MSI-H / MLH1+MSH2-MSH6-PMS2+ (47939-92161)	25/09/15	8 (Nancy)	---

Biological significance	Date	Comment
Causal	25/09/15	---