TheUMD-MSH2 mutations database
Large rearrangement: c.1_366del (deletion from exon 1 to 2)

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_10675_10675-001_10675-	-	-	-	-	-
19_10675_10675-002_10675-	-	-	-	-	-
19_10887_10887-001_10887-	-	-	-	-	-
19_12764_12764-001_12764-	-	-	-	-	-
19_14673_14673-001_14673-	-	-	-	-	-
19_2753527535-00127535-001	-	-	-	-	-
19_5165_5165-001_5165-001	-	-	-	-	-
19_5165_5165-003_5165-003	-	-	-	-	-
19_5165_5165-005_5165-005	-	-	-	-	-
19_5378_5378-001_5378-001	-	-	-	-	-
19_5378_5378-003_5378-003	-	-	-	-	-
19_5378_5378-004_5378-004	-	-	-	-	-
19_5378_5378-005_5378-005	-	-	-	-	-
19_5378_5378-006_5378-006	-	-	-	-	-
19_5378_5378-008_5378-008	-	-	-	-	-
19_5378_5378-009_5378-009	-	-	-	-	-
19_5378_5378-012_5378-012	-	-	-	-	-
19_5378_5378-013_5378-013	-	-	-	-	-
19_5378_5378-015_5378-015	-	-	-	-	-
19_5666_5666-001_5666-001	-	-	-	-	-
19_5666_5666-002_5666-002	-	-	-	-	-
19_5666_5666-004_5666-004	-	-	-	-	-
19_5666_5666-005_5666-005	-	-	-	-	-
19_5666_5666-007_5666-007	-	-	-	-	-
19_5666_5666-008_5666-008	-	-	-	-	-
19_5666_5666-011_5666-011	-	-	-	-	-
19_5666_5666-012_5666-012	-	-	-	-	-
19_5666_5666-014_5666-014	-	-	-	-	-
19_5666_5666-017_5666-017	-	-	-	-	-
19_5666_5666-019_5666-019	-	-	-	-	-
19_61486148-0046148-004	-	-	-	-	-
19_6148_6148-001_6148-001	-	-	-	-	-
19_6815_6815-001_6815-001	-	-	-	-	-
2_02-DDM4591_23452_23452	-	-	-	-	-
37_L02.09_11059_91416	-	-	-	-	-
37_L02.09_1302_9089	-	-	-	-	-
37_L02.09_1322_9460	-	-	-	-	-
37_L02.09_1323_9461	-	-	-	-	-
37_L02.09_1324_9462	-	-	-	-	-
37_L02.09_1325_9463	-	-	-	-	-
37_L02.09_1385_10614	-	-	-	-	-
37_L02.09_1644_14539	-	-	-	-	-
37_L02.09_1667_14863	-	-	-	-	-
37_L02.09_1668_14864	-	-	-	-	-
37_L02.09_924_3372	-	-	-	-	-
37_L13.14129788166699	-	-	-	-	-
37_L13.14130233168172	-	-	-	-	-
4_C00100__712	-	-	-	-	-
4_JCS0924_22425_2899	-	-	-	-	-
7_-5914---E050381	-	-	-	-	-
9_F27358421908-396031EGS	-	-	-	-	-
SO_-3056---G03112	-	-	-	-	-
SO_-4162---G06147	-	-	-	-	-

Complementary data about this mutation

Analysis	Result	Date	Origin	PMID/dbSNP
Co-occurrence	deletion of EPCAM exon 9 (-cis)	13/06/14	8 (Nancy)	---
Clinical phenotype	Index case (27535-001) : sebaceoma + 1 adenoma at the age of 46	25/09/15	19 (Rouen)	---
MMR function in tumor cells	MSI / MSH2-MSH6- (27535-001)	25/09/15	19 (Rouen)	---

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

Consequences of the mutation at the protein level No data available