Annotation Detail
Information
- Associated Genes
- MLH3
- Associated Variants
-
MLH3 p.Thr942Ile (p.T942I)
(
ENST00000556257.5,
ENST00000355774.7,
ENST00000380968.6 )
MLH3 p.Thr942Ile (p.T942I) ( ENST00000355774.7, ENST00000380968.6, ENST00000556257.5 ) - Associated Disease
- Colorectal cancer, hereditary nonpolyposis, type 7
- Source Database
- ClinVar
- Description
- NM_001040108.2(MLH3):c.2825C>T (p.Thr942Ile) AND Colorectal cancer, hereditary nonpolyposis, type 7
- ClinVar Allele ID
- 339201
- ClinVar RefSeq Alternation Syntax
- NM_014381.3:c.2825C>T
- ClinVar RefSeq Alternation Syntax
- NM_001040108.2:c.2825C>T
- Clinical Significance Description
- Benign/Likely benign
- Clinical Significance Last Update
- 2024-02-01
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000280903
- ClinVar Disease
- Colorectal cancer, hereditary nonpolyposis, type 7
- Observed Origin Sample
- germline
Drugs