RGD:127317403 Rat Genome Database

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Variant: RGD:127317403 -  Homo sapiens

RGD ID: 127317403
RS ID: rs8179023
ClinVar ID: CV1154936
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC6A3  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 5 1,443,007
GRCh38 5 1,442,892
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001044.5:c.286+20C>G
NG_015885.1:g.7537C>G
NC_000005.10:g.1442892G>C
NC_000005.9:g.1443007G>C
 12/03/2020 intron variant benign DOPAMINE TRANSPORTER DEFICIENCY SYNDROME; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC6A3
Accession:NM_001044
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001521081 CLINVAR
  RCV001685405 CLINVAR
dbSNP (RS) rs8179023 CLINVAR
MedGen C2751067 CLINVAR
  C3661900 CLINVAR
NCBI Gene SLC6A3 CLINVAR
OMIM 126455 CLINVAR
  613135 CLINVAR