Annotation Detail
Information
- Associated Genes
- MLH1
- Associated Variants
-
MLH1 c.-93G>A
(
ENST00000536378.5,
ENST00000673673.2 )
MLH1 c.-93G>A ( ENST00000536378.5, ENST00000673673.2 ) - Associated Disease
- Colorectal cancer, hereditary nonpolyposis, type 2
- Source Database
- ClinVar
- Description
- NM_000249.3(MLH1):c.-93G>A AND Colorectal cancer, hereditary nonpolyposis, type 2
- ClinVar Allele ID
- 95074
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2018-03-06
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000018636
- ClinVar Disease
- Colorectal cancer, hereditary nonpolyposis, type 2
- Observed Origin Sample
- germline
- Pubmed
- 17301300
Drugs