RGD:151810237 Rat Genome Database

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Variant: RGD:151810237 -  Homo sapiens

RGD ID: 151810237
RS ID: rs375416292
ClinVar ID: CV1417321
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC6A3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 1,411,485
GRCh38 5 1,411,370
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.1157-15C>T
NG_015885.1:g.39059C>T
NC_000005.10:g.1411370G>A
NC_000005.9:g.1411485G>A
 11/19/2021 intron variant uncertain significance 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 RCV002028900 CLINVAR
dbSNP (RS) rs375416292 CLINVAR
MedGen C2751067 CLINVAR
NCBI Gene SLC6A3 CLINVAR
OMIM 126455 CLINVAR
  613135 CLINVAR