Annotation Detail
Information
- Associated Genes
- MSH2
- Associated Variants
-
MSH2 p.Arg711Ter (p.R711*)
(
ENST00000233146.7,
ENST00000406134.5,
ENST00000543555.6,
ENST00000645506.1,
ENST00000713854.1,
ENST00000713919.1 )
MSH2 p.Arg711Ter (p.R711*) ( 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.2131C>T (p.Arg711Ter) AND Lynch syndrome 1
- ClinVar Allele ID
- 96378
- ClinVar RefSeq Alternation Syntax
- NM_000251.3:c.2131C>T
- ClinVar RefSeq Alternation Syntax
- NM_001258281.1:c.1933C>T
- Clinical Significance Description
- Conflicting interpretations of pathogenicity
- Clinical Significance Last Update
- 2024-03-25
- Clinical Significance Review Status
- criteria provided, conflicting interpretations
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002272055
- ClinVar Disease
- Lynch syndrome 1
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs