RGD:12791671 Rat Genome Database

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Variant: RGD:12791671 -  Homo sapiens

RGD ID: 12791671
RS ID: rs1076560
ClinVar ID: CV362504
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DRD2  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 113,283,688
GRCh38 11 113,412,966
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008841.1:g.67314G>T
NC_000011.10:g.113412966C>A
NC_000011.9:g.113283688C>A
NM_000795.4:c.811-83G>T
More... 		06/18/2021 intron variant benign|likely benign|drug response Dystonia; none provided
Disease Annotations     Click to see Annotation Detail View
dystonia  (IAGP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Dystonia  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:DRD2
Accession:NM_000795
Location:INTRON

Gene Symbol:DRD2
Accession:XM_047426511
Location:INTRON

Gene Symbol:DRD2
Accession:NM_016574
Location:INTRON

Gene Symbol:DRD2
Accession:XM_017017296
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000630731 CLINVAR
  RCV001662373 CLINVAR
dbSNP (RS) rs1076560 CLINVAR
MedGen C0013421 CLINVAR
  C3661900 CLINVAR
NCBI Gene DRD2 CLINVAR
OMIM 126450 CLINVAR