Annotation Detail
Information
- Associated Genes
- MSH2
- Associated Variants
-
MSH2 p.Pro69ArgfsTer15 (p.P69Rfs*15)
(
ENST00000233146.7,
ENST00000406134.5,
ENST00000543555.6,
ENST00000645506.1,
ENST00000713854.1,
ENST00000713860.1,
ENST00000713861.1,
ENST00000713919.1 )
MSH2 p.Asn486ThrfsTer10 (p.N486Tfs*10) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.Asn596del (p.N596del) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.Val705TrpfsTer5 (p.V705Wfs*5) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.Glu768AspfsTer44 (p.E768Dfs*44) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.Thr788SerfsTer10 (p.T788Sfs*10) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.Glu878AlafsTer3 (p.E878Afs*3) ( ENST00000543555.6, ENST00000406134.5, ENST00000233146.7, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.Pro69ArgfsTer15 (p.P69Rfs*15) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 p.Asn486ThrfsTer10 (p.N486Tfs*10) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.Asn596del (p.N596del) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.Val705TrpfsTer5 (p.V705Wfs*5) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.Glu768AspfsTer44 (p.E768Dfs*44) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.Thr788SerfsTer10 (p.T788Sfs*10) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.Glu878AlafsTer3 (p.E878Afs*3) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.Val265LysfsTer11 (p.V265Kfs*11) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 p.Val265LysfsTer11 (p.V265Kfs*11) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 c.942+3A>T ( ENST00000543555.6, ENST00000233146.7, ENST00000406134.5, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 c.943-1G>A ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 c.943-1G>C ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 p.Gln337Ter (p.Q337*) ( ENST00000406134.5, ENST00000543555.6, ENST00000233146.7, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 p.Arg406Ter (p.R406*) ( ENST00000543555.6, ENST00000406134.5, ENST00000233146.7, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 p.Arg524His (p.R524H) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.Arg524Pro (p.R524P) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.Arg524Leu (p.R524L) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.Pro622Leu (p.P622L) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.His639Tyr (p.H639Y) ( ENST00000406134.5, ENST00000543555.6, ENST00000233146.7, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.Gln662Ter (p.Q662*) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 c.2005+1G>A ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 c.2005+1G>C ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 c.2005+1G>T ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.Arg711Ter (p.R711*) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.Gly820Asp (p.G820D) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.Ser860Ter (p.S860*) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.Ser860Leu (p.S860L) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 c.942+3A>T ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 c.943-1G>A ( ENST00000713860.1, ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 c.943-1G>C ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 p.Gln337Ter (p.Q337*) ( ENST00000713854.1, ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 p.Arg406Ter (p.R406*) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 p.Arg524His (p.R524H) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.Arg524Pro (p.R524P) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.Arg524Leu (p.R524L) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.Pro622Leu (p.P622L) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.His639Tyr (p.H639Y) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.Gln662Ter (p.Q662*) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 c.2005+1G>A ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 c.2005+1G>C ( ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1, ENST00000233146.7 )
MSH2 c.2005+1G>T ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.Arg711Ter (p.R711*) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.Gly820Asp (p.G820D) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.Ser860Ter (p.S860*) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.Ser860Leu (p.S860L) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.Arg159LysfsTer19 (p.R159Kfs*19)
MSH2 p.His424GlnfsTer2 (p.H424Qfs*2)
MSH2 p.Arg159LysfsTer19 (p.R159Kfs*19)
MSH2 p.His424GlnfsTer2 (p.H424Qfs*2) - Associated Disease
- Colorectal cancer, hereditary nonpolyposis, type 1
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.32
- Year of publication
- NA
Drugs