RGD:12840735 Rat Genome Database

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Variant: RGD:12840735 -  Homo sapiens

RGD ID: 12840735
RS ID: rs76860965
ClinVar ID: CV365276
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC2A1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 43,393,399
GRCh38 1 42,927,728
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1132:g.36449C>T
NG_008232.1:g.36449C>T
NC_000001.11:g.42927728G>A
NC_000001.10:g.43393399G>A
More... 		06/19/2020 synonymous variant benign|likely benign 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: 385
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPSSKKLTGRLMLAVGGAVLGSLQFGYNTGVINAPQKVIEEFYNQTWVHRYGESILPTTLTTLWSLSVAIFSVGGMIGS
FSVGLFVNRFGRRNSMLMMNLLAFVSAVLMGFSKLGKSFEMLILGRFIIGVYCGLTTGFVPMYVGEVSPTALRGALGTLH
QLGIVVGILIAQVFGLDSIMGNKDLWPLLLSIIFIPALLQCIVLPFCPESPRFLLINRNEENRAKSVLKKLRGTADVTHD
LQEMKEESRQMMREKKVTILELFRSPAYRQPILIAVVLQLSQQLSGINAVFYYSTSIFEKAGVQQPVYATIGSGIVNTAF
TVVSLFVVERAGRRTLHLIGLAGMAGCAILMTIALALLEQLPWMSYLSIVAIFGFVAFFEVGPGPIPWFIVAELFSQGPR
PAAIAVAGFSNWTSNFIVGMCFQYVEQLCGPYVFIIFTVLLVLFFIFTYFKVPETKGRTFDEIASGFRQGGASQSDKTPE
ELFHPLGADSQV*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000431278 CLINVAR
  RCV000713337 CLINVAR
  RCV001089184 CLINVAR
  RCV002314158 CLINVAR
  RCV003445966 CLINVAR
  RCV003445967 CLINVAR
  RCV003445968 CLINVAR
  RCV003445969 CLINVAR
  RCV003445970 CLINVAR
dbSNP (RS) rs76860965 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