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
- DRD2-associated Dystonia
- Source Database
- ClinVar
- Description
- NM_000795.4(DRD2):c.928C>T (p.Pro310Ser) AND DRD2-associated Dystonia
- 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
- 2021-07-09
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002265711
- ClinVar Disease
- DRD2-associated Dystonia
- Observed Origin Sample
- inherited
Drugs