Annotation Detail
Information
- Associated Genes
- MSH2
- Associated Variants
-
MSH2 p.Arg680Ter (p.R680*)
(
ENST00000233146.7,
ENST00000406134.5,
ENST00000543555.6,
ENST00000645506.1,
ENST00000713854.1,
ENST00000713919.1 )
MSH2 p.Arg680Ter (p.R680*) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 ) - Associated Disease
- Malignant tumor of ascending colon
- Source Database
- ClinVar
- Description
- NM_000251.3(MSH2):c.2038C>T (p.Arg680Ter) AND Malignant tumor of ascending colon
- ClinVar Allele ID
- 45234
- ClinVar RefSeq Alternation Syntax
- NM_001258281.1:c.1840C>T
- ClinVar RefSeq Alternation Syntax
- NM_000251.3:c.2038C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2018-01-04
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000677886
- ClinVar Disease
- Malignant tumor of ascending colon
- Observed Origin Sample
- germline
Drugs