RGD:8692905 Rat Genome Database

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Variant: RGD:8692905 -  Homo sapiens

RGD ID: 8692905
RS ID: rs146879902
ClinVar ID: CV142871
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC2A1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 43,392,754
GRCh38 1 42,927,083
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.37094C>T
NC_000001.11:g.42927083G>A
NC_000001.10:g.43392754G>A
NP_006507.2:p.Pro479=
More... 		12/01/2020 synonymous variant benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance AllHighlyPenetrant; CHOREOATHETOSIS, KINESIGENIC, WITH EPISODIC ATAXIA AND SPASTICITY; De Vivo disease; Dystonia 18; Glucose transport defect, blood-brain barrier; Glucose transporter protein syndrome; GLUT1 deficiency syndrome 1; GLUT1 deficiency syndrome 1, infantile onset, severe; GLUT1 DEFICIENCY SYNDROME WITH PSEUDOHYPERKALEMIA AND HEMOLYSIS; 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

Variant Details
Variant Transcripts
Gene Symbol:SLC2A1
Accession:NM_006516
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 479
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPSSKKLTGRLMLAVGGAVLGSLQFGYNTGVINAPQKVIEEFYNQTWVHRYGESILPTTLTTLWSLSVAIFSVGGMIGS
FSVGLFVNRFGRRNSMLMMNLLAFVSAVLMGFSKLGKSFEMLILGRFIIGVYCGLTTGFVPMYVGEVSPTALRGALGTLH
QLGIVVGILIAQVFGLDSIMGNKDLWPLLLSIIFIPALLQCIVLPFCPESPRFLLINRNEENRAKSVLKKLRGTADVTHD
LQEMKEESRQMMREKKVTILELFRSPAYRQPILIAVVLQLSQQLSGINAVFYYSTSIFEKAGVQQPVYATIGSGIVNTAF
TVVSLFVVERAGRRTLHLIGLAGMAGCAILMTIALALLEQLPWMSYLSIVAIFGFVAFFEVGPGPIPWFIVAELFSQGPR
PAAIAVAGFSNWTSNFIVGMCFQYVEQLCGPYVFIIFTVLLVLFFIFTYFKVPETKGRTFDEIASGFRQGGASQSDKTPE
ELFHPLGADSQV*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:25914049   PMID:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000186664 CLINVAR
  RCV000304832 CLINVAR
  RCV000398338 CLINVAR
  RCV000761652 CLINVAR
  RCV001085385 CLINVAR
  RCV002390295 CLINVAR
  RCV003445554 CLINVAR
  RCV003445555 CLINVAR
  RCV003445556 CLINVAR
dbSNP (RS) rs146879902 CLINVAR
MedGen C0950123 CLINVAR
  C1832855 CLINVAR
  C1837206 CLINVAR
  C1842534 CLINVAR
  C3149117 CLINVAR
  C3553859 CLINVAR
  C3661900 CLINVAR
  C4551966 CLINVAR
  CN169374 CLINVAR
NCBI Gene SLC2A1 CLINVAR
OMIM 138140 CLINVAR
  601042 CLINVAR
  606777 CLINVAR
  608885 CLINVAR
  612126 CLINVAR
  614847 CLINVAR