RGD:13822091 Rat Genome Database

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Variant: RGD:13822091 -  Homo sapiens

RGD ID: 13822091
RS ID: rs1553691674
ClinVar ID: CV558742
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC6A1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 11,075,324
GRCh38 3 11,033,638
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_053003.1:g.45910G>A
NC_000003.12:g.11033638G>A
NC_000003.11:g.11075324G>A
NM_003042.4:c.1427-1G>A
More... 		05/18/2018 splice acceptor variant likely pathogenic
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC6A1
Accession:XM_017007071
Location:INTRON

Gene Symbol:SLC6A1
Accession:XM_017007072
Location:INTRON

Gene Symbol:SLC6A1
Accession:NM_003042
Location:INTRON

Gene Symbol:SLC6A1
Accession:XM_005265411
Location:INTRON

Gene Symbol:SLC6A1
Accession:XM_011534027
Location:INTRON

Gene Symbol:SLC6A1
Accession:NM_001348251
Location:INTRON

Gene Symbol:SLC6A1
Accession:NM_001348250
Location:INTRON

Gene Symbol:SLC6A1
Accession:NM_001348253
Location:INTRON

Gene Symbol:SLC6A1
Accession:NM_001348252
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:25865495   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003596518 CLINVAR
dbSNP (RS) rs1553691674 CLINVAR
MedGen CN231318 CLINVAR
NCBI Gene SLC6A1 CLINVAR
OMIM 137165 CLINVAR
  616421 CLINVAR