TheUMD-MLH1 mutations database
Large rearrangement: c.307_380del (deletion from exon 4 to 4)

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
19_9400_9400-001_9400-001	-	-	-	-	-
19_9400_9400-002_9400-002	-	-	-	-	-
5_20141632013007173AAI922	c.IVS3-29C>A (c.307-29C>A) c.IVS5+25A>G (c.453+25A>G)	-	-	-	-

Complementary data about this mutation

Analysis	Result	Date	Origin	PMID/dbSNP
Co-occurrence	MLH1:c.307-29C>A, p.?, MLH1:c.453+25A>G, p.? (2014163-2013007173)	5/08/15	5 (Bordeaux)	---
Clinical phenotype	Amsterdam I + (2014163)	5/08/15	5 (Bordeaux)	---
MMR function in tumor cells	MSI / MLH1-MSH2+MSH6+PMS2- (2014163-2013007173)	5/08/15	5 (Bordeaux)	---

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

Consequences of the mutation at the protein level No data available