RGD:9683831 Rat Genome Database

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Variant: RGD:9683831 -  Homo sapiens

RGD ID: 9683831
RS ID: rs587784393
ClinVar ID: CV167996
Genic Status: GENIC
Type: deletion (SO:0000159) 
Associated Genes: SLC2A1  
Reference Nucleotide: CCGTCAGCTT
Variant Nucleotide: ----------
Position
Assembly Chr Position
GRCh37 1 43,408,983 - 43,408,993
GRCh38 1 42,943,312 - 42,943,322
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_008232.1:g.20856_20865del
NC_000001.11:g.42943313_42943322del
NC_000001.10:g.43408984_43408993del
LRG_1132:g.20856_20865del
 02/08/2013 frameshift variant pathogenic neonatal/infancy 1-9 / 100 000 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:INTRON

Variant Samples
Additional References at PubMed
PMID:18414213  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000147524 CLINVAR
dbSNP (RS) rs587784393 CLINVAR
MedGen C4551966 CLINVAR
NCBI Gene SLC2A1 CLINVAR
OMIM 138140 CLINVAR
  606777 CLINVAR