The UMD-MSH2 mutations database
Mutation c.IVS7-1G>A (c.1277-1G>A)

Splice site type	Wild type sequence	CV	Mutant type sequence	CV	Variation (%)
Acceptor	actttcttttagGA	84.4 _	actttcttttaaGA	55.5 _ *	-34.3 %

     Data for this mutation

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

Sample ID	MSH2	MLH1	MSH6	MUTYH	APC
5_2011529P0049045AAF664	-	-	-	-	-
7_69767029E081071	-	-	-	-	-
8_F19087321008-829011EGS	-	-	-	-	-
8_F19089249008-973041EGS	-	-	-	-	-
8_F1908_19081963_08-41008	-	-	-	-	-

Complementary data about this mutation

Analysis	Result	Date	Origin	PMID/dbSNP
In vitro analysis	RT-PCR: complete loss of exon 8	9/12/13	5 (Bordeaux)	---

Biological significance	Date	Comment
Causal	21/02/14	---