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
- Dystonic disorder
- Source Database
- ClinVar
- Description
- NM_000795.4(DRD2):c.939T>C (p.His313=) AND Dystonic disorder
- 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
- 2024-02-01
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001513860
- ClinVar Disease
- Dystonic disorder
- Observed Origin Sample
- germline
Drugs