The UMD-MSH6 mutations database
Mutation c.IVS3-74A>G (c.628-74A>G)

Splice site type	Wild type sequence	CV	Mutant type sequence	CV	Variation (%)
Cryptic Donor?	atcataagt	56.4 _	atcgtaagt	83.3 _ *	32.2 %

     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
41_HNPCC611120130005	-	-	-	-	-

Complementary data about this mutation

Analysis	Result	Date	Origin	PMID/dbSNP
MMR function in tumor cells	MSH2-MSH6- (HNPCC611-1)	13/06/14	41 (HEGP)	---
Clinical phenotype	Multiple late-onset Lynch-related cancers (HNPCC611)	13/06/14	41 (HEGP)	---
In vitro analysis	RT-PCR (PAXgene) : normal splicing (biallelic expression)	25/09/15	19 (INSERM U1079-Rouen)	---

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