Annotation Detail
Information
- Associated Genes
- MSH3
- Associated Variants
-
MSH3 p.Gln949Arg (p.Q949R)
(
ENST00000265081.7,
ENST00000658259.1,
ENST00000667069.1 )
MSH3 p.Gln949Arg (p.Q949R) ( ENST00000265081.7, ENST00000658259.1, ENST00000667069.1 ) - Associated Disease
- Hereditary cancer-predisposing syndrome
- Source Database
- ClinVar
- Description
- NM_002439.5(MSH3):c.2846A>G (p.Gln949Arg) AND Hereditary cancer-predisposing syndrome
- ClinVar Allele ID
- 808710
- ClinVar RefSeq Alternation Syntax
- NM_002439.5:c.2846A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-02-27
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001016772
- ClinVar Disease
- Hereditary cancer-predisposing syndrome
- Observed Origin Sample
- germline
Drugs