Annotation Detail

Information
Associated Genes
DRD2
Associated Variants
DRD2 p.Ser311Cys (p.S311C) ( ENST00000538967.5, ENST00000346454.7, ENST00000362072.8, ENST00000542968.5, ENST00000544518.5 )
DRD2 p.Ser311Cys (p.S311C) ( ENST00000346454.7, ENST00000362072.8, ENST00000538967.5, ENST00000542968.5, ENST00000544518.5 )
Associated Disease
not specified
Source Database
ClinVar
Description
NM_000795.4(DRD2):c.932C>G (p.Ser311Cys) AND not specified
ClinVar Allele ID
253993
ClinVar RefSeq Alternation Syntax
NM_000795.4:c.932C>G
ClinVar RefSeq Alternation Syntax
NM_016574.4:c.845C>G
Clinical Significance Description
Benign
Clinical Significance Last Update
2016-02-29
Clinical Significance Review Status
criteria provided, multiple submitters, no conflicts
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000250604
ClinVar Disease
not specified
Observed Origin Sample
germline
Drugs