The UMD-APC mutations database
Mutation c.IVS4-8G>A (c.532-8G>A)

Splice site type	Wild type sequence	CV	Mutant type sequence	CV	Variation (%)
Cryptic Acceptor?	TATTATTTGTGGTTT	50.9 _	TATTATTTGTAGTTT	79.8 _ *	36.3 %

     Data for this mutation

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

Sample ID	APC	MLH1	MSH2	MSH6	MUTYH
19_19094---19094.001	-	-	-	-	-
19_19094---19094.003	-	-	-	-	-

Complementary data about this mutation

Analysis	Result	Date	Origin	PMID/dbSNP
Ex vivo analysis	Splicing reporter minigene pCas: insertion of the last 6 nt of intron 4	19/09/13	19
In vitro analysis	RT-PCR: insertion of the last 6 nt of intron 4	19/09/13	---	19196998

Biological significance	Date	Comment
Causal	19/09/13	---