Annotation Detail

Information
Associated Genes
DRD2
Associated Variants
DRD2 p.Pro310Ser (p.P310S) ( ENST00000544518.5, ENST00000346454.7, ENST00000362072.8, ENST00000538967.5, ENST00000542968.5 )
DRD2 p.Pro310Ser (p.P310S) ( ENST00000346454.7, ENST00000362072.8, ENST00000538967.5, ENST00000542968.5, ENST00000544518.5 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_000795.4(DRD2):c.928C>T (p.Pro310Ser) AND not provided
ClinVar Allele ID
253994
ClinVar RefSeq Alternation Syntax
NM_016574.4:c.841C>T
ClinVar RefSeq Alternation Syntax
NM_000795.4:c.928C>T
Clinical Significance Description
Uncertain significance
Clinical Significance Last Update
2016-09-06
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000723713
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs