Annotation Detail
Information
- Associated Genes
- MUTYH
- Associated Variants
-
MUTYH p.Ala382ProfsTer23 (p.A382Pfs*23), ENSG00000288208 p.Ala553ProfsTer23 (p.A553Pfs*23)
(
ENST00000713751.1,
ENST00000488731.6,
ENST00000672314.2,
ENST00000483127.2,
ENST00000456914.7,
ENST00000354383.10,
ENST00000529984.5,
ENST00000372115.7,
ENST00000355498.6,
ENST00000372104.5,
ENST00000528013.6,
ENST00000412971.6,
ENST00000710952.2,
ENST00000372110.7,
ENST00000713750.1,
ENST00000672818.3,
ENST00000531105.5,
ENST00000529892.6,
ENST00000448481.5,
ENST00000372098.7 )
MUTYH p.Ala382ProfsTer23 (p.A382Pfs*23), ENSG00000288208 p.Ala553ProfsTer23 (p.A553Pfs*23) ( ENST00000354383.10, ENST00000355498.6, ENST00000372098.7, ENST00000372104.5, ENST00000372110.7, ENST00000372115.7, ENST00000412971.6, ENST00000448481.5, ENST00000456914.7, ENST00000483127.2, ENST00000488731.6, ENST00000528013.6, ENST00000529892.6, ENST00000529984.5, ENST00000531105.5, ENST00000672314.2, ENST00000672818.3, ENST00000710952.2, ENST00000713750.1, ENST00000713751.1 )
MUTYH p.Pro402Leu (p.P402L), ENSG00000288208 p.Pro573Leu (p.P573L) ( ENST00000354383.10, ENST00000483127.2, ENST00000372104.5, ENST00000531105.5, ENST00000488731.6, ENST00000528013.6, ENST00000456914.7, ENST00000529984.5, ENST00000448481.5, ENST00000372115.7, ENST00000355498.6, ENST00000372098.7, ENST00000372110.7, ENST00000529892.6, ENST00000412971.6, ENST00000672314.2, ENST00000672818.3, ENST00000710952.2, ENST00000713750.1, ENST00000713751.1 )
MUTYH p.Gly393Asp (p.G393D), ENSG00000288208 p.Gly564Asp (p.G564D) ( ENST00000531105.5, ENST00000672818.3, ENST00000448481.5, ENST00000372098.7, ENST00000529892.6, ENST00000710952.2, ENST00000713750.1, ENST00000372110.7, ENST00000529984.5, ENST00000372115.7, ENST00000672314.2, ENST00000483127.2, ENST00000456914.7, ENST00000354383.10, ENST00000372104.5, ENST00000528013.6, ENST00000412971.6, ENST00000355498.6, ENST00000713751.1, ENST00000488731.6 )
MUTYH c.1178-2A>G, ENSG00000288208 c.1691-2A>G ( ENST00000372098.7, ENST00000448481.5, ENST00000529892.6, ENST00000531105.5, ENST00000672818.3, ENST00000713750.1, ENST00000710952.2, ENST00000372104.5, ENST00000355498.6, ENST00000372115.7, ENST00000529984.5, ENST00000456914.7, ENST00000483127.2, ENST00000672314.2, ENST00000713751.1, ENST00000372110.7, ENST00000412971.6, ENST00000528013.6, ENST00000354383.10, ENST00000488731.6 )
MUTYH p.Gln388Ter (p.Q388*), ENSG00000288208 p.Gln559Ter (p.Q559*) ( ENST00000412971.6, ENST00000355498.6, ENST00000372098.7, ENST00000372110.7, ENST00000354383.10, ENST00000528013.6, ENST00000529984.5, ENST00000531105.5, ENST00000372104.5, ENST00000483127.2, ENST00000488731.6, ENST00000529892.6, ENST00000456914.7, ENST00000448481.5, ENST00000372115.7, ENST00000672314.2, ENST00000672818.3, ENST00000710952.2, ENST00000713750.1, ENST00000713751.1 )
MUTYH p.Arg244Ter (p.R244*), ENSG00000288208 p.Arg415Ter (p.R415*) ( ENST00000448481.5, ENST00000372115.7, ENST00000412971.6, ENST00000531105.5, ENST00000528013.6, ENST00000529984.5, ENST00000483127.2, ENST00000488731.6, ENST00000372110.7, ENST00000354383.10, ENST00000355498.6, ENST00000372098.7, ENST00000372104.5, ENST00000456914.7, ENST00000529892.6, ENST00000672314.2, ENST00000672818.3, ENST00000710952.2, ENST00000713750.1, ENST00000713751.1 )
MUTYH p.Tyr176Cys (p.Y176C), ENSG00000288208 p.Tyr347Cys (p.Y347C) ( ENST00000372098.7, ENST00000448481.5, ENST00000529892.6, ENST00000531105.5, ENST00000672818.3, ENST00000713750.1, ENST00000372110.7, ENST00000710952.2, ENST00000528013.6, ENST00000412971.6, ENST00000372104.5, ENST00000355498.6, ENST00000372115.7, ENST00000529984.5, ENST00000456914.7, ENST00000354383.10, ENST00000672314.2, ENST00000483127.2, ENST00000488731.6, ENST00000713751.1 )
MUTYH p.Arg19Ter (p.R19*), ENSG00000288208 p.Arg187Ter (p.R187*) ( ENST00000483127.2, ENST00000529892.6, ENST00000354383.10, ENST00000355498.6, ENST00000448481.5, ENST00000456914.7, ENST00000372115.7, ENST00000372110.7, ENST00000372098.7, ENST00000412971.6, ENST00000531105.5, ENST00000528013.6, ENST00000529984.5, ENST00000372104.5, ENST00000488731.6, ENST00000672314.2, ENST00000672818.3, ENST00000710952.2, ENST00000713750.1, ENST00000713751.1 )
MUTYH p.Arg19Gly (p.R19G), ENSG00000288208 p.Arg187Gly (p.R187G) ( ENST00000672818.3, ENST00000531105.5, ENST00000529892.6, ENST00000372098.7, ENST00000448481.5, ENST00000710952.2, ENST00000372110.7, ENST00000713750.1, ENST00000354383.10, ENST00000456914.7, ENST00000483127.2, ENST00000672314.2, ENST00000372115.7, ENST00000529984.5, ENST00000355498.6, ENST00000412971.6, ENST00000528013.6, ENST00000372104.5, ENST00000713751.1, ENST00000488731.6 )
MUTYH p.Pro402Leu (p.P402L), ENSG00000288208 p.Pro573Leu (p.P573L) ( ENST00000354383.10, ENST00000355498.6, ENST00000372098.7, ENST00000372104.5, ENST00000372110.7, ENST00000372115.7, ENST00000412971.6, ENST00000448481.5, ENST00000456914.7, ENST00000483127.2, ENST00000488731.6, ENST00000528013.6, ENST00000529892.6, ENST00000529984.5, ENST00000531105.5, ENST00000672314.2, ENST00000672818.3, ENST00000710952.2, ENST00000713750.1, ENST00000713751.1 )
MUTYH p.Gly393Asp (p.G393D), ENSG00000288208 p.Gly564Asp (p.G564D) ( ENST00000354383.10, ENST00000355498.6, ENST00000372098.7, ENST00000372104.5, ENST00000372110.7, ENST00000372115.7, ENST00000412971.6, ENST00000448481.5, ENST00000456914.7, ENST00000483127.2, ENST00000488731.6, ENST00000528013.6, ENST00000529892.6, ENST00000529984.5, ENST00000531105.5, ENST00000672314.2, ENST00000672818.3, ENST00000710952.2, ENST00000713750.1, ENST00000713751.1 )
MUTYH c.1178-2A>G, ENSG00000288208 c.1691-2A>G ( ENST00000354383.10, ENST00000355498.6, ENST00000372098.7, ENST00000372104.5, ENST00000372110.7, ENST00000372115.7, ENST00000412971.6, ENST00000448481.5, ENST00000456914.7, ENST00000483127.2, ENST00000488731.6, ENST00000528013.6, ENST00000529892.6, ENST00000529984.5, ENST00000531105.5, ENST00000672314.2, ENST00000672818.3, ENST00000710952.2, ENST00000713750.1, ENST00000713751.1 )
MUTYH p.Gln388Ter (p.Q388*), ENSG00000288208 p.Gln559Ter (p.Q559*) ( ENST00000354383.10, ENST00000355498.6, ENST00000372098.7, ENST00000372104.5, ENST00000372110.7, ENST00000372115.7, ENST00000412971.6, ENST00000448481.5, ENST00000456914.7, ENST00000483127.2, ENST00000488731.6, ENST00000528013.6, ENST00000529892.6, ENST00000529984.5, ENST00000531105.5, ENST00000672314.2, ENST00000672818.3, ENST00000710952.2, ENST00000713750.1, ENST00000713751.1 )
MUTYH p.Arg244Ter (p.R244*), ENSG00000288208 p.Arg415Ter (p.R415*) ( ENST00000354383.10, ENST00000355498.6, ENST00000372098.7, ENST00000372104.5, ENST00000372110.7, ENST00000372115.7, ENST00000412971.6, ENST00000448481.5, ENST00000456914.7, ENST00000483127.2, ENST00000488731.6, ENST00000528013.6, ENST00000529892.6, ENST00000529984.5, ENST00000531105.5, ENST00000672314.2, ENST00000672818.3, ENST00000710952.2, ENST00000713750.1, ENST00000713751.1 )
MUTYH p.Tyr176Cys (p.Y176C), ENSG00000288208 p.Tyr347Cys (p.Y347C) ( ENST00000354383.10, ENST00000355498.6, ENST00000372098.7, ENST00000372104.5, ENST00000372110.7, ENST00000372115.7, ENST00000412971.6, ENST00000448481.5, ENST00000456914.7, ENST00000483127.2, ENST00000488731.6, ENST00000528013.6, ENST00000529892.6, ENST00000529984.5, ENST00000531105.5, ENST00000672314.2, ENST00000672818.3, ENST00000710952.2, ENST00000713750.1, ENST00000713751.1 )
MUTYH p.Arg19Ter (p.R19*), ENSG00000288208 p.Arg187Ter (p.R187*) ( ENST00000354383.10, ENST00000355498.6, ENST00000372098.7, ENST00000372104.5, ENST00000372110.7, ENST00000372115.7, ENST00000412971.6, ENST00000448481.5, ENST00000456914.7, ENST00000483127.2, ENST00000488731.6, ENST00000528013.6, ENST00000529892.6, ENST00000529984.5, ENST00000531105.5, ENST00000672314.2, ENST00000672818.3, ENST00000710952.2, ENST00000713750.1, ENST00000713751.1 )
MUTYH p.Arg19Gly (p.R19G), ENSG00000288208 p.Arg187Gly (p.R187G) ( ENST00000354383.10, ENST00000355498.6, ENST00000372098.7, ENST00000372104.5, ENST00000372110.7, ENST00000372115.7, ENST00000412971.6, ENST00000448481.5, ENST00000456914.7, ENST00000483127.2, ENST00000488731.6, ENST00000528013.6, ENST00000529892.6, ENST00000529984.5, ENST00000531105.5, ENST00000672314.2, ENST00000672818.3, ENST00000710952.2, ENST00000713750.1, ENST00000713751.1 )
MUTYH p.Pro408GlyfsTer42 (p.P408Gfs*42), ENSG00000288208 p.Pro579GlyfsTer42 (p.P579Gfs*42)
MUTYH p.Pro408GlyfsTer42 (p.P408Gfs*42), ENSG00000288208 p.Pro579GlyfsTer42 (p.P579Gfs*42) - Associated Disease
- colon carcinoma
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.122442976848723
- Year of publication
- NA
Drugs