Annotation Detail
Information
- Associated Genes
- MSH2
- Associated Variants
-
MSH2 c.-118T>C
(
ENST00000543555.6 )
MSH2 c.-118T>C ( ENST00000543555.6 ) - Associated Disease
- Hereditary nonpolyposis colorectal neoplasms
- Source Database
- ClinVar
- Description
- NM_000251.2(MSH2):c.-118T>C AND Hereditary nonpolyposis colorectal neoplasms
- ClinVar Allele ID
- 95960
- ClinVar RefSeq Alternation Syntax
- NM_001258281.1:c.-132T>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-01-29
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001519741
- ClinVar Disease
- Hereditary nonpolyposis colorectal neoplasms
- Observed Origin Sample
- germline
Drugs