Annotation Detail

Information
Associated Genes
MSH2
Associated Variants
MSH2 p.Arg389Ter (p.R389*) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 p.Arg389Ter (p.R389*) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
Associated Disease
Lynch syndrome
Source Database
ClinVar
Description
NM_000251.3(MSH2):c.1165C>T (p.Arg389Ter) AND Lynch syndrome
ClinVar Allele ID
96032
ClinVar RefSeq Alternation Syntax
NM_001258281.1:c.967C>T
ClinVar RefSeq Alternation Syntax
NM_000251.3:c.1165C>T
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2013-09-05
Clinical Significance Review Status
reviewed by expert panel
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000076052
ClinVar Disease
Lynch syndrome
Observed Origin Sample
germline
Observed Origin Sample
unknown
Drugs