Annotation Detail
Information
- Associated Genes
- MSH2
- Associated Variants
-
MSH2 p.Asn311ThrfsTer20 (p.N311Tfs*20)
(
ENST00000233146.7,
ENST00000406134.5,
ENST00000543555.6,
ENST00000645506.1,
ENST00000713854.1,
ENST00000713860.1,
ENST00000713861.1,
ENST00000713919.1 )
MSH2 p.Asn311ThrfsTer20 (p.N311Tfs*20) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000251.3(MSH2):c.932del (p.Asn311fs) AND not provided
- ClinVar Allele ID
- 133112
- ClinVar RefSeq Alternation Syntax
- NM_000251.3:c.932del
- ClinVar RefSeq Alternation Syntax
- NM_001258281.1:c.734del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-01-05
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000115548
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs