RGD:405078634 Rat Genome Database

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Variant: RGD:405078634 -  Homo sapiens

RGD ID: 405078634
ClinVar ID: CV2880902
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127402260  SLC6A3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 1,416,332
GRCh38 5 1,416,217
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.928-16C>T
NG_015885.1:g.34212C>T
NG_104219.1:g.578G>A
NC_000005.10:g.1416217G>A
More... 		08/30/2023 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 RCV003595295 CLINVAR
MedGen C2751067 CLINVAR
NCBI Gene SLC6A3 CLINVAR
OMIM 126455 CLINVAR
  613135 CLINVAR