RGD:11590334 Rat Genome Database

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Variant: RGD:11590334 -  Homo sapiens

RGD ID: 11590334
RS ID: rs28365848
ClinVar ID: CV282349
Genic Status: GENIC
Type: deletion (SO:0000159) 
Associated Genes: LOC129660237  
Reference Nucleotide: T
Variant Nucleotide: -
Position
Assembly Chr Position
GRCh37 1 43,424,712
GRCh38 1 42,959,041
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.-390del
NC_000001.11:g.42959041del
NG_157275.2:g.383del
NG_008232.1:g.5136del
More... 		06/18/2018 5 prime utr variant benign CHOREOATHETOSIS, KINESIGENIC, WITH EPISODIC ATAXIA AND SPASTICITY; De Vivo disease; Dystonia; Dystonia 18; Glucose transport defect, blood-brain barrier; Glucose transporter protein syndrome; Glucose transporter type 1 deficiency syndrome; GLUT-1 deficiency syndrome; GLUT1 deficiency syndrome 1; GLUT1 deficiency syndrome 1, infantile onset, severe; GLUT1 DEFICIENCY SYNDROME WITH PSEUDOHYPERKALEMIA AND HEMOLYSIS; GLUT1 DS; none provided; PAROXYSMAL EXERCISE-INDUCED DYSKINESIA WITH OR WITHOUT EPILEPSY AND/OR HEMOLYTIC ANEMIA; Paroxysmal exercise-induced dystonia; Paroxysmal exertion-induced dyskinesia; PAROXYSMAL EXERTION-INDUCED DYSTONIA WITH OR WITHOUT EPILEPSY AND/OR HEMOLYTIC ANEMIA; PED WITH OR WITHOUT EPILEPSY AND/OR HEMOLYTIC ANEMIA; PxMD-SLC2A1; Stomatin-deficient cryohydrocytosis with neurologic defects
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Dystonia  (IAGP)

Variant Details
Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000318285 CLINVAR
  RCV000372998 CLINVAR
  RCV000829779 CLINVAR
  RCV003445900 CLINVAR
  RCV003445901 CLINVAR
  RCV003445902 CLINVAR
  RCV003445903 CLINVAR
  RCV003445904 CLINVAR
dbSNP (RS) rs28365848 CLINVAR
MedGen C0013421 CLINVAR
  C1832855 CLINVAR
  C1837206 CLINVAR
  C1842534 CLINVAR
  C1847501 CLINVAR
  C3553859 CLINVAR
  C3661900 CLINVAR
  C4551966 CLINVAR
NCBI Gene SLC2A1 CLINVAR
OMIM 138140 CLINVAR
  601042 CLINVAR
  606777 CLINVAR
  608885 CLINVAR
  612126 CLINVAR
  614847 CLINVAR