Annotation Detail
Information
- Associated Genes
- MRC1
- Associated Variants
-
MSH2 p.Gly322Asp (p.G322D)
(
ENST00000233146.7,
ENST00000406134.5,
ENST00000543555.6,
ENST00000645506.1,
ENST00000713854.1,
ENST00000713860.1,
ENST00000713861.1,
ENST00000713919.1 )
MSH2 p.Gly322Val (p.G322V) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MLH1 c.-93G>A ( ENST00000536378.5, ENST00000673673.2 )
MSH2 p.Gly322Asp (p.G322D) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 p.Gly322Val (p.G322V) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MLH1 c.-93G>A ( ENST00000536378.5, ENST00000673673.2 ) - Associated Disease
- endometrial carcinoma
- Source Database
- DisGeNET
- Description
- We checked the association between EC occurrence and two polymorphisms of MMR genes: a 1032G>A (rs4987188) transition in the hMSH2 gene resulting in a Gly22Asp substitution and a -93G>A (rs1800734) transition in the promoter of the hMLH1 gene.
- Pubmed
- 25804231
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.015200744836497
- Year of publication
- 2015
Drugs