The UMD-MSH2 mutations database
Mutation c.IVS14-38T>G (c.2459-38T>G)

Splice site type	Wild type sequence	CV	Mutant type sequence	CV	Variation (%)
Alternative Branch Point?	ttctcat	94.6 _	ttcGcat	75.7 _ *	-20 %

     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
2_02-DDM4321_1968_19684412	-	-	-	-	-

Complementary data about this mutation

Analysis	Result	Date	Origin	PMID/dbSNP
Co-occurrence	MLH1:c.2038T>C, p.Cys680Arg (1968-4412)	7/07/14	2 (Villejuif)	---
Clinical phenotype	Sporadic rectal cancer < 50 years old (1968-4412)	7/07/14	2 (Villejuif)	---
MMR function in tumor cells	MSI-H (BRAF p.Gln609X) / MLH1+MSH2+MSH6+PMS2+ (1968-4412)	7/07/14	2 (Villejuif)	---

Biological significance	Date	Comment
Likely Neutral	9/07/15	---