Annotation Detail
Information
- Associated Genes
- MSH2
- Associated Variants
-
MSH2 c.-118T>C
(
ENST00000543555.6 )
MSH2 c.-118T>C ( ENST00000543555.6 ) - Associated Disease
- Lynch syndrome
- Source Database
- ClinVar
- Description
- NM_000251.2(MSH2):c.-118T>C AND Lynch syndrome
- ClinVar Allele ID
- 95960
- ClinVar RefSeq Alternation Syntax
- NM_001258281.1:c.-132T>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2013-09-05
- Clinical Significance Review Status
- reviewed by expert panel
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000075980
- ClinVar Disease
- Lynch syndrome
- Observed Origin Sample
- germline
Drugs