Annotation Detail
Information
- Associated Genes
- MSH2
- Associated Variants
-
MSH2 p.Ala636Pro (p.A636P)
(
ENST00000233146.7,
ENST00000406134.5,
ENST00000543555.6,
ENST00000645506.1,
ENST00000713854.1,
ENST00000713919.1 )
MSH2 p.Ala636Pro (p.A636P) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 ) - Associated Disease
- Hereditary Nonpolyposis Colorectal Cancer
- Source Database
- DisGeNET
- Description
- We previously described a founder mutation, MSH2*1906G >C (A636P) that causes HNPCC in 8/1345 (0.59%) of Ashkenazim with colorectal cancer.
- Pubmed
- 17414604
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.33183515989301
- Year of publication
- 2007
Drugs