Annotation Detail
Information
- Associated Genes
- MSH2
- Associated Variants
-
MSH2 p.Leu481Ter (p.L481*)
(
ENST00000233146.7,
ENST00000406134.5,
ENST00000543555.6,
ENST00000645506.1,
ENST00000713854.1,
ENST00000713919.1 )
MSH2 p.Leu481Ter (p.L481*) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 ) - Associated Disease
- Lynch syndrome 1
- Source Database
- ClinVar
- Description
- NM_000251.3(MSH2):c.1442T>A (p.Leu481Ter) AND Lynch syndrome 1
- ClinVar Allele ID
- 185981
- ClinVar RefSeq Alternation Syntax
- NM_000251.3:c.1442T>A
- ClinVar RefSeq Alternation Syntax
- NM_001258281.1:c.1244T>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-08-02
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003454424
- ClinVar Disease
- Lynch syndrome 1
- Observed Origin Sample
- unknown
Drugs