The UMD-MUTYH mutations database
Mutation c.IVS4+56G>A (c.346+56G>A)

Splice site type	Wild type sequence	CV	Mutant type sequence	CV	Variation (%)
Cryptic Acceptor?	tgggtctgggggctg	41.2 _	tgggtctgggAgctg	70.2 _ *	41.2 %

     Data for this mutation

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

Sample ID	MUTYH	MLH1	MSH2	MSH6	APC
33_PSL36806-015---	c.1393G>A (p.Glu465Lys)	-	-	-	-

Complementary data about this mutation

Analysis	Result	Date	Origin	PMID
Allele frequency	Heterozygosity: 0.01 (/134 MMR mutation carriers)	10/12/12	Niessen 2006 Human Genetics	16408224
Allele frequency	Heterozygosity: 0,01 (2/80 HNPCC-like patients)	10/12/12	Peterlongo 2006 Carcinogenesis	16774938

Biological significance	Date	Comment
Neutral	10/12/12	---