The UMD-APC mutations database
Mutation c.IVS13+78A>G (c.1743+78A>G)

Splice site type	Wild type sequence	CV	Mutant type sequence	CV	Variation (%)
Cryptic Acceptor?	TAGCCATGAGATTTC	40.9 _	TAGCCATGAGAGTTC	69.8 _ *	41.5 %

     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_12379---12379.001	-	-	-	-	-
19_14291---14291.001	-	-	-	-	-
19_19208---19208.001	c.IVS6-29A>T (c.730-29A>T) c.1695A>G (p.Glu565Glu) c.1695A>G (p.Glu565Glu) c.3732A>G (p.Gln1244Gln) c.7862C>G (p.Ser2621Cys)	-	-	-	-
19_19912---19112.001	c.3949G>C (p.Glu1317Gln)	-	-	-	-
19_8997---8997.001	-	-	-	-	-

Complementary data about this mutation

Analysis	Result	Date	Origin	PMID/dbSNP
Ex vivo analysis	Splicing reporter minigene pCas: normal splicing	19/09/13	19

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