RGD:15159565 Rat Genome Database

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Variant: RGD:15159565 -  Homo sapiens

RGD ID: 15159565
RS ID: rs201191000
ClinVar ID: CV759307
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC6A1  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 3 11,064,015
GRCh38 3 11,022,329
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001348251.2:c.222-7T>G
NM_003042.4:c.582-7T>G
NG_053003.1:g.34601T>G
NC_000003.12:g.11022329T>G
More... 		05/25/2018 intron variant likely benign Generalized myoclonic-atonic seizure; Myoclonic atonic seizures
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:SLC6A1
Accession:NM_001348252
Location:INTRON

Gene Symbol:SLC6A1
Accession:XM_005265411
Location:INTRON

Gene Symbol:SLC6A1
Accession:XM_017007072
Location:INTRON

Gene Symbol:SLC6A1
Accession:XM_017007071
Location:INTRON

Gene Symbol:SLC6A1
Accession:NM_001348250
Location:INTRON

Gene Symbol:SLC6A1
Accession:NM_003042
Location:INTRON

Gene Symbol:SLC6A1
Accession:NM_001348253
Location:INTRON

Gene Symbol:SLC6A1
Accession:XM_011534027
Location:INTRON

Gene Symbol:SLC6A1
Accession:NM_001348251
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003444709 CLINVAR
dbSNP (RS) rs201191000 CLINVAR
MedGen C0393702 CLINVAR
NCBI Gene SLC6A1 CLINVAR
OMIM 137165 CLINVAR