The UMD-MSH2 mutations database
Mutation c.IVS14-12A>G (c.2459-12A>G)

Splice site type	Wild type sequence	CV	Mutant type sequence	CV	Variation (%)
Cryptic Acceptor?	acgcttccccaaatt	56.5 _	acgcttccccaGatt	85.5 _ *	33.9 %

     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
31_H1308H1308-4H1308-4A	-	-	-	-	-
31_H1308H1308-5H1308-5A	-	-	-	-	-

Complementary data about this mutation

Analysis	Result	Date	Origin	PMID/dbSNP
Clinical phenotype	Index case : urothelial cancer at the age of 34 (H1308-5)	6/07/15	31 (Montpellier)	---
Segregation analysis	LOD score = 1,2 (H1308)	30/04/15	31 (Montpellier)	---

Biological significance	Date	Comment
UV	29/08/14	---