RGD:11648881 Rat Genome Database

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Variant: RGD:11648881 -  Homo sapiens

RGD ID: 11648881
RS ID: rs886046334
ClinVar ID: CV282567
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC2A1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 43,391,696
GRCh38 1 42,926,025
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008232.1:g.38152A>G
NC_000001.11:g.42926025T>C
NC_000001.10:g.43391696T>C
NM_006516.4:c.*1016A>G
More... 		01/13/2018 3 prime utr variant uncertain significance CHOREOATHETOSIS, KINESIGENIC, WITH EPISODIC ATAXIA AND SPASTICITY; De Vivo disease; Glucose transport defect, blood-brain barrier; Glucose transporter protein syndrome; GLUT1 deficiency syndrome 1; GLUT1 deficiency syndrome 1, infantile onset, severe
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC2A1
Accession:NM_006516
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000284437 CLINVAR
  RCV000376484 CLINVAR
dbSNP (RS) rs886046334 CLINVAR
MedGen C1832855 CLINVAR
  C4551966 CLINVAR
NCBI Gene SLC2A1 CLINVAR
OMIM 138140 CLINVAR
  601042 CLINVAR
  606777 CLINVAR