The UMD-MSH2 mutations database
Mutation c.1216C>T



     Data for this mutation

Co occurence of MLH1, MSH2, MSH6, MUTYH and APC mutations (Pathogenic mutations, Unclassified variants, Non-pathogenic variation)
Sample IDMSH2MLH1MSH6MUTYHAPC
19_10440_10440-001_10440------
19_699_699-001_699-001-1-----
19_699_699-002_699-002-1-----
2_02-DDM4283_22508_22508-----
31_H92_H92_1_H92_1_A-----
31_H92_H92_3_H92_3_A-----
31_H92_H92_4_H92_4_A-----
5_202013457AAH978-----
7_-6039---E050971-----
7_-60394339E050971c.IVS1+9C>G (c.211+9C>G)
c.IVS9-9A>T (c.1511-9A>T)
c.IVS12-6T>C (c.2006-6T>C)		c.IVS14-19A>G (c.1668-19A>G)
c.655A>G (p.Ile219Val)		---
SO_-3255---G03527-----
SO_-3255---G03528-----
SO_-4064---G05971-----
SO_-4064---G08491-----
SO_-4064---G08492-----
SO_-40643146G08406-----
SO_-926---G01550-----
SO_-926---G04596-----

Complementary data about this mutation
AnalysisResult DateOriginPMID/dbSNP
MMR function in tumor cellsMSI-H / MSH2-MSH6- (202013457-AAH978)13/06/145 (Bordeaux)
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Biological significanceDate Comment
Causal21/02/14---