TheUMD-MSH2 mutations database
Large rearrangement: c.1_1386del (deletion from exon 1 to 8)

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_15363_15363-001_15363-	-	-	-	-	-
19_1890_1890-001_1890-001	-	-	-	-	-
19_1890_1890-002_1890-002	-	-	-	-	-
19_1890_1890-003_1890-003	-	-	-	-	-
19_1890_1890-004_1890-004	-	-	-	-	-
19_3351_3351-001_3351-001	-	-	-	-	-
19_3351_3351-003_3351-003	-	-	-	-	-
20_20-00300030-37---	-	-	-	-	-
2_02-DDM3939_21745_21745	-	-	-	-	-
37_L13.14014695148219/148220	-	-	-	-	-
4_B9706__736	-	-	-	-	-
4_JCS1309312124553	-	-	-	-	-
8_25361_3121963_08-186060	-	-	-	-	-
8_45636_84524_08-343421EG	-	-	-	-	-

Complementary data about this mutation

Analysis	Result	Date	Origin	PMID/dbSNP
Clinical phenotype	Amsterdam II+. Index case (20-0030-37) : colorectal cancer at the age of 35. Mother : rectal cancer at the age of 30. Maternal aunt : endometrium cancer at the age of 40. Maternal uncle : colorectal cancer at the age of 40	28/08/15	20 (Clermont-Ferrand)	---

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

Consequences of the mutation at the protein level No data available