The UMD-MLH1 mutations database
Mutation c.IVS9+3A>T (c.790+3A>T)

Splice site type	Wild type sequence	CV	Mutant type sequence	CV	Variation (%)
Donor	ACCgtaagt	78.4 _	ACCgttagt	70.6 _	-9.9 %

     Data for this mutation

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

Sample ID	MLH1	MSH2	MSH6	MUTYH	APC
17_F05213_5870_---	-	-	-	-	-
2_02-DDM3562_20817_---	-	-	-	-	-

Complementary data about this mutation

Analysis	Result	Date	Origin	PMID/dbSNP
In vitro analysis	RT-PCR: total loss of exon 9	1/07/14	17 (Curie)	---
Ex vivo analysis	Splicing reporter minigene pCAS: loss of exon 9	27/03/09	19 (INSERM U1079-Rouen)	---

Biological significance	Date	Comment
Causal	1/06/15	---