Annotation Detail

Information
Associated Genes
DRD2
Associated Variants
DRD2 p.His313= (p.H313=) ( ENST00000544518.5, ENST00000362072.8, ENST00000538967.5, ENST00000542968.5, ENST00000346454.7 )
DRD2 p.His313= (p.H313=) ( ENST00000346454.7, ENST00000362072.8, ENST00000538967.5, ENST00000542968.5, ENST00000544518.5 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_000795.4(DRD2):c.939T>C (p.His313=) AND not provided
ClinVar Allele ID
253992
ClinVar RefSeq Alternation Syntax
NM_016574.4:c.852T>C
ClinVar RefSeq Alternation Syntax
NM_000795.4:c.939T>C
Clinical Significance Description
Benign
Clinical Significance Last Update
2018-07-23
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001711663
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs