TheUMD-MSH2 mutations database
Large rearrangement: c.1_211del (deletion from exon 1 to 1)

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
19_12488_12488-001_12488-	-	-	-	-	-
19_13872_13872-001_13872-	-	-	-	-	-
19_13872_13872-002_13872-	-	-	-	-	-
19_13872_13872-003_13872-	-	-	-	-	-
19_1618_1618-001_1618-001	-	-	-	-	-
19_1618_1618-002_1618-002	-	-	-	-	-
19_2450124501.00124501.001	-	-	-	-	-
19_2499924999.00124999.001	-	-	-	-	-
19_3490_3490-001_3490-001	-	-	-	-	-
19_7081_7081-001_7081-001	-	-	-	-	-
19_7081_7081-002_7081-002	-	-	-	-	-
19_7081_7081-005_7081-005	-	-	-	-	-
19_7081_7081-006_7081-006	-	-	-	-	-
19_7081_7081-008_7081-008	-	-	-	-	-
19_7081_7081-009_7081-009	-	-	-	-	-
19_7081_7081-010_7081-010	-	-	-	-	-
19_7081_7081-014_7081-014	-	-	-	-	-
20_20-44554455-01---	-	-	-	-	-
2_02-ACT2284_15564_15564	c.IVS7+51C>A (c.1276+51C>A) c.573C>T (p.Leu191Leu)	-	-	-	-
4_CH43858321754717	-	-	-	-	-
5_2008289_20072812_AAC606	c.IVS12-6T>C (c.2006-6T>C)	-	-	-	-
SO_-1328---G00343	-	-	-	-	-

Complementary data about this mutation

Analysis	Result	Date	Origin	PMID/dbSNP
Clinical phenotype	Multiple Lynch-related cancers (24501.001)	13/05/14	19 (Rouen)	---
Clinical phenotype	Sporadic Lynch-related cancer (endometrium) < 50 years old (24999.001)	13/05/14	19 (Rouen)	---
MMR function in tumor cells	MSI / MLH1+MSH2-MSH6- (24999.001)	13/05/14	19 (Rouen)	---
Clinical phenotype	Multiple Lynch-related cancers (24501.001)	13/05/14	19 (Rouen)	---
MMR function in tumor cells	MSI / MLH1+MSH2-MSH6- (endometrium) (24501.001)	13/05/14	19 (Rouen)	---

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

Consequences of the mutation at the protein level No data available