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
Essential tremor, susceptibility to
Source Database
ClinVar
Description
NM_000796.6(DRD3):c.25G>A (p.Gly9Ser) AND Essential tremor, susceptibility to
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
risk factor
Clinical Significance Last Update
2007-03-06
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000018258
ClinVar Disease
Essential tremor, susceptibility to
Observed Origin Sample
germline
Pubmed
8225313
Pubmed
8411064
Pubmed
16650084
Pubmed
16809426
Pubmed
1362221
Pubmed
17339592
Pubmed
9514583
Drugs