Annotation Detail
Information
- Associated Genes
- MSH2
- Associated Variants
-
MSH2 p.Met152CysfsTer22 (p.M152Cfs*22)
(
ENST00000233146.7,
ENST00000406134.5,
ENST00000543555.6,
ENST00000645506.1,
ENST00000713854.1,
ENST00000713860.1,
ENST00000713861.1,
ENST00000713919.1 )
MSH2 p.Met152CysfsTer22 (p.M152Cfs*22) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 ) - Associated Disease
- Mismatch repair cancer syndrome 2
- Source Database
- ClinVar
- Description
- NM_000251.3(MSH2):c.454del (p.Met152fs) AND Mismatch repair cancer syndrome 2
- ClinVar Allele ID
- 16807
- ClinVar RefSeq Alternation Syntax
- NM_000251.3:c.454del
- ClinVar RefSeq Alternation Syntax
- NM_001258281.1:c.256del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2003-01-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000001839
- ClinVar Disease
- Mismatch repair cancer syndrome 2
- Observed Origin Sample
- germline
- Pubmed
- 12549480
Drugs