The UMD-MSH2 mutations database
Mutation c.IVS4-23G>A (c.793-23G>A)



     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-ACT1936_14831_14831c.380A>G (p.Asn127Ser)----
2_02-DDM2676_18508_18508c.380A>G (p.Asn127Ser)----
2_02-DDM3108_16165_16165-----
2_PLP-HEGP EXT53_15561_15c.380A>G (p.Asn127Ser)----
37_P08.14717667677c.380A>G (p.Asn127Ser)c.IVS5-51T>C (c.454-51T>C)---

Complementary data about this mutation
AnalysisResult DateOriginPMID/dbSNP
Co-occurrenceMSH2:c.380A>G, p.Asn127Ser (P08.14-7176)31/03/1537 (Lille)
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Allele frequencyrs17224255 : 2.2% heterozygotes, no homozygotes AA19/09/09dbSNP
rs17224255


Biological significanceDate Comment
Neutral29/09/09---