TheUMD-MSH2 mutations database
Large rearrangement: c.1277_1386del (deletion from exon 8 to 8)



Data for this mutation


Co occurence of MLH1, MSH2, MSH6, MUTYH and APC mutations (Pathogenic mutations, Unclassified variants, Non-pathogenic variation)
Sample IDMSH2MLH1MSH6MUTYHAPC
19_10540_10540-001_10540------
19_11991_11991-001_11991------
19_14331_14331-001_14331------
19_5244_5244-001_5244-001-----
19_5244_5244-004_5244-004-----
19_5244_5244-005_5244-005-----
19_5244_5244-007_5244-007-----
19_5244_5244-008_5244-008-----
19_6257_6257-001_6257-001-----
19_6257_6257-002_6257-002-----
19_6257_6257-004_6257-004-----
19_7176_7176-001_7176-001-----
19_8688_8688-001_8688-001-----
19_9551_9551-001_9551-001-----
2_02-ACT2215_12430_12430--c.431G>T (p.Ser144Ile)--
2_02-DDM2746_18678_18678-----
37_L09.007_8684_77152-----
37_L14.047-E26719156573-----
8_44171_77912_08-401411EG-----
8_474689342908-018041-----
8_F990_B040582_04-0277-----
8_F990_B050352_05-0259-----
SO_-3039---G03072-----
SO_-4632---G06966-----
SO_-5744---G09019-----

Biological significanceDate Comment
Causal21/02/14---



Consequences of the mutation at the protein level

No data available