Annotation Detail
Information
- Associated Genes
- MSH2
- Associated Variants
-
MSH2 p.Asn127Ser (p.N127S)
(
ENST00000406134.5,
ENST00000233146.7,
ENST00000543555.6,
ENST00000645506.1,
ENST00000713854.1,
ENST00000713860.1,
ENST00000713861.1,
ENST00000713919.1 )
MSH2 p.Asn127Ile (p.N127I) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 p.Asn127Ser (p.N127S) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 p.Asn127Ile (p.N127I) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 ) - Associated Disease
- colorectal cancer
- Source Database
- DisGeNET
- Description
- The role of one of the most frequently reported MMR gene VUS, MSH2 c.380A>G (p.Asn127Ser), is especially interesting because its concomitant defect with another variant could finally explain its recurrent occurrence in CRC patients.
- Pubmed
- 22581703
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.143788839938871
- Year of publication
- 2012
Drugs