RGD:28890536 Rat Genome Database

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Variant: RGD:28890536 -  Homo sapiens

RGD ID: 28890536
RS ID: rs543194486
ClinVar ID: CV864442
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC2A1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 43,392,299
GRCh38 1 42,926,628
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_006516.2:c.*413G>A
NC_000001.11:g.42926628C>T
NC_000001.10:g.43392299C>T
NG_008232.1:g.37549G>A
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 RCV001099844 CLINVAR
  RCV001099845 CLINVAR
dbSNP (RS) rs543194486 CLINVAR
MedGen C1832855 CLINVAR
  C4551966 CLINVAR
NCBI Gene SLC2A1 CLINVAR
OMIM 138140 CLINVAR
  601042 CLINVAR
  606777 CLINVAR