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
not provided
Source Database
ClinVar
Description
NM_002439.5(MSH3):c.2846A>G (p.Gln949Arg) AND not provided
ClinVar Allele ID
808710
ClinVar RefSeq Alternation Syntax
NM_002439.5:c.2846A>G
Clinical Significance Description
Benign
Clinical Significance Last Update
2024-02-01
Clinical Significance Review Status
criteria provided, multiple submitters, no conflicts
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001511633
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs