Annotation Detail
Information
- Associated Genes
- DRD3
- Associated Variants
-
DRD3 p.Gly9Ser (p.G9S)
(
ENST00000295881.9,
ENST00000383673.5,
ENST00000460779.5,
ENST00000467632.5 )
DRD3 p.Gly9Ser (p.G9S) ( ENST00000295881.9, ENST00000383673.5, ENST00000460779.5, ENST00000467632.5 ) - Associated Disease
- Tremor, hereditary essential, 1
- Source Database
- ClinVar
- Description
- NM_000796.6(DRD3):c.25G>A (p.Gly9Ser) AND Tremor, hereditary essential, 1
- ClinVar Allele ID
- 31809
- ClinVar RefSeq Alternation Syntax
- NM_001282563.2:c.25G>A
- ClinVar RefSeq Alternation Syntax
- NM_033663.6:c.25G>A
- ClinVar RefSeq Alternation Syntax
- NM_001290809.1:c.25G>A
- ClinVar RefSeq Alternation Syntax
- NM_000796.6:c.25G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2018-03-06
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000381906
- ClinVar Disease
- Tremor, hereditary essential, 1
- Observed Origin Sample
- germline
Drugs