RGD:152029253 Rat Genome Database

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Variant: RGD:152029253 -  Homo sapiens

RGD ID: 152029253
RS ID: rs200430075
ClinVar ID: CV1555714
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127402259  SLC6A3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 1,414,950
GRCh38 5 1,414,835
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.1032-20G>A
NC_000005.10:g.1414835C>T
NC_000005.9:g.1414950C>T
NG_015885.1:g.35594G>A
 11/16/2021 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 RCV002186102 CLINVAR
dbSNP (RS) rs200430075 CLINVAR
MedGen C2751067 CLINVAR
NCBI Gene SLC6A3 CLINVAR
OMIM 126455 CLINVAR
  613135 CLINVAR