The UMD-MSH6 mutations database
Mutation c.IVS6-7delTTTT (c.3557-7delTTTT)

Splice site type	Wild type sequence	CV	Mutant type sequence	CV	Variation (%)
Acceptor	tttttttttaagGT	88.3 _	tttttaagGTTGAA	48.6 _ *	-44.9 %

     Data for this mutation

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

Sample ID	MSH6	MLH1	MSH2	MUTYH	APC
2_02-DDM1024836306213224443	-	-	c.IVS7+47T>A (c.1276+47T>A)	-	-

Complementary data about this mutation

Analysis	Result	Date	Origin	PMID/dbSNP
Clinical phenotype	Rectal cancer < 50 years old (02-DDM10248-36306)	1/07/14	2 (Villejuif)	---
MMR function in tumor cells	MLH1+MSH2+MSH6+PMS2+ (02-DDM10248-36306)	1/07/14	2 (Villejuif)	---

Biological significance	Date	Comment
UV	25/09/15	---