The UMD-MLH1 mutations database
Mutation c.IVS14+43A>G (c.1667+43A>G)

Splice site type	Wild type sequence	CV	Mutant type sequence	CV	Variation (%)
Cryptic Acceptor?	ctactacaacaatgg	53.2 _	ctactacaacaGtgg	82.2 _ *	35.2 %

     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
5_20140352014000135AAI667	c.2142G>A (p.Trp714X)	-	-	-	-

Complementary data about this mutation

Analysis	Result	Date	Origin	PMID/dbSNP
Clinical phenotype	Multiple sporadic Lynch-related cancers < 50 years old (Bethesda) (2014035-2014000135)	5/08/15	5 (Bordeaux)	---
MMR function in tumor cells	MSI-H / MLH1-MSH2+MSH6+PMS2- (gastric cancer) (2014035-2014000135)	5/08/15	5 (Bordeaux)	---
Co-occurrence	MLH1:c.2142G>A, p.Trp714X (2014035-2014000135)	5/08/15	5 (Bordeaux)	---

Biological significance	Date	Comment
UV	5/08/15	---