RGD:156234918 Rat Genome Database

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Variant: RGD:156234918 -  Homo sapiens

RGD ID: 156234918
ClinVar ID: CV2081709
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC6A3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 1,409,251
GRCh38 5 1,409,136
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.1399-11C>T
NG_015885.1:g.41293C>T
NC_000005.10:g.1409136G>A
NC_000005.9:g.1409251G>A
 09/03/2022 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 RCV002876380 CLINVAR
MedGen C2751067 CLINVAR
NCBI Gene SLC6A3 CLINVAR
OMIM 126455 CLINVAR
  613135 CLINVAR