Annotation Detail
Information
- Associated Genes
- MUTYH
- Associated Variants
-
MUTYH p.Arg516Gln (p.R516Q), ENSG00000288208 c.*215G>A
(
ENST00000488731.6,
ENST00000713751.1,
ENST00000412971.6,
ENST00000528013.6,
ENST00000372104.5,
ENST00000355498.6,
ENST00000372115.7,
ENST00000529984.5,
ENST00000354383.10,
ENST00000456914.7,
ENST00000483127.2,
ENST00000672314.2,
ENST00000713750.1,
ENST00000372110.7,
ENST00000710952.2,
ENST00000372098.7,
ENST00000448481.5,
ENST00000529892.6,
ENST00000531105.5,
ENST00000672818.3 )
MUTYH p.Gln335His (p.Q335H), ENSG00000288208 p.Gln506His (p.Q506H) ( ENST00000456914.7, ENST00000529984.5, ENST00000528013.6, ENST00000372115.7, ENST00000488731.6, ENST00000529892.6, ENST00000372104.5, ENST00000354383.10, ENST00000448481.5, ENST00000483127.2, ENST00000355498.6, ENST00000372098.7, ENST00000372110.7, ENST00000412971.6, ENST00000531105.5, ENST00000713751.1, ENST00000672314.2, ENST00000672818.3, ENST00000710952.2, ENST00000713750.1 )
OGG1 c.948+273C>G ( ENST00000302003.11, ENST00000302008.12, ENST00000302036.12, ENST00000339511.9, ENST00000344629.12, ENST00000352937.6, ENST00000383826.9, ENST00000449570.6, ENST00000707074.1 )
MUTYH p.Arg516Gln (p.R516Q), ENSG00000288208 c.*215G>A ( 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.Gln335His (p.Q335H), ENSG00000288208 p.Gln506His (p.Q506H) ( 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 )
OGG1 c.948+273C>G ( ENST00000302003.11, ENST00000302008.12, ENST00000302036.12, ENST00000339511.9, ENST00000344629.12, ENST00000352937.6, ENST00000383826.9, ENST00000449570.6, ENST00000707074.1 ) - Associated Disease
- Glaucoma, Primary Open Angle
- Source Database
- DisGeNET
- Description
- Association of the 399Arg/Gln XRCC1, the 194 Arg/Trp XRCC1, the 326Ser/Cys OGG1, and the 324Gln/His MUTYH gene polymorphisms with clinical parameters and the risk for development of primary open-angle glaucoma.
- Pubmed
- 23499241
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
- Year of publication
- 2013
Drugs