TheUMD-MSH2 mutations database
Large rearrangement: c.2647dup ()



Data for this mutation


Co occurence of MLH1, MSH2, MSH6, MUTYH and APC mutations (Pathogenic mutations, Unclassified variants, Non-pathogenic variation)
Sample IDMSH2MLH1MSH6MUTYHAPC
2_02-DDM6020_24617_24617c.1024G>A (p.Val342Ile)----
37_L03.37_1939_19325-----
4_13067305334509-----
4_Gr2006-141_19318_1682-----
7_35161651E03392c.IVS1+9C>G (c.211+9C>G)
c.1024G>A (p.Val342Ile)
c.IVS10+12G>A (c.1661+12G>A)		c.IVS14-19At;G (c.1668-19A>G)
c.655A>G (p.Ile219Val)		---
7_444453E01139c.IVS1+9C>G (c.211+9C>G)
c.IVS1-4del (c.212-4del)
c.741C>T (p.Gly247Gly)
c.IVS5+28del2 (c.942+28del2)
c.IVS14+36G>A (c.2458+36G>A)		----
SO_-3911---G05531c.1024G>A (p.Val342Ile)----
SO_-3911---G07268-----
SO_-3911---G07305-----
SO_-3911---G07780-----
SO_-3911---G07831-----
SO_-3911---G07842-----
SO_-3911---G07921-----
SO_-3911---G08783-----
SO_-3911---G09021-----

Complementary data about this mutation
AnalysisResult DateOriginPMID/dbSNP
MMR function in tumor cellsMSI-H / MSH6- (13067-30533)17/03/154 (Lyon)
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Biological significanceDate Comment
Causal21/02/14---



Consequences of the mutation at the protein level

No data available