The UMD-APC mutations database
Mutation c.IVS3-9A>G (c.423-9A>G)

Splice site type	Wild type sequence	CV	Mutant type sequence	CV	Variation (%)
Cryptic Acceptor?	TTTTAAAAAAAAAAA	45.1 _	TTTTAAAAAAAGAAA	74 _ *	39.1 %

     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_1271312713.00112713.001	-	-	-	-	-
19_1271312713.00212713.002	-	-	-	-	-
19_1271312713.00312713.003	-	-	-	-	-

Complementary data about this mutation

Analysis	Result	Date	Origin	PMID/dbSNP
Ex vivo analysis	Splicing reporter minigene pCas: insertion of the last 8 nt of intron 3	19/09/13	19
In vitro analysis	RT-PCR: insertion of the last 8 nt of intron 3 (12713.002)	19/09/13	19
Clinical phenotype	Familial Adenomatous Polyposis (12713)	10/03/15	19	---

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