The UMD-MLH1 mutations database
Mutation c.IVS2-2A>G (c.208-2A>G)

Splice site type	Wild type sequence	CV	Mutant type sequence	CV	Variation (%)
Acceptor	ggtatctaacagAA	80.7 _	ggtatctaacggAA	51.7 _ *	-35.9 %

     Data for this mutation

Co occurence of MLH1, MSH2, MSH6, MUTYH and APC mutations (Pathogenic mutations, Unclassified variants, Non-pathogenic variation)

Sample ID	MLH1	MSH2	MSH6	MUTYH	APC
2_DDM1135537480213336476	-	-	-	-	-

Complementary data about this mutation

Analysis	Result	Date	Origin	PMID/dbSNP
Clinical phenotype	Index case (DDM11355-37480) : endometrium cancer at the age of 60+ colon cancer at the age of 63. Father : Colon cancer at the age of 45 (DDM11355-37480)	1/09/15	2 (Villejuif)	---
MMR function in tumor cells	MSI-H / MLH1-PMS2- (DDM11355-37480)	1/09/15	2 (Villejuif)	---

Biological significance	Date	Comment
Causal	9/09/15	---