RGD:152103695 Rat Genome Database

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Variant: RGD:152103695 -  Homo sapiens

RGD ID: 152103695
RS ID: rs1208452818
ClinVar ID: CV1625513
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127402259  SLC6A3  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 5 1,414,935
GRCh38 5 1,414,820
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000005.10:g.1414820A>G
NC_000005.9:g.1414935A>G
NM_001044.5:c.1032-5T>C
NG_015885.1:g.35609T>C
 10/26/2021 intron variant likely benign DOPAMINE TRANSPORTER DEFICIENCY SYNDROME
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 RCV002152117 CLINVAR
dbSNP (RS) rs1208452818 CLINVAR
MedGen C2751067 CLINVAR
NCBI Gene SLC6A3 CLINVAR
OMIM 126455 CLINVAR
  613135 CLINVAR