RGD:9683835 Rat Genome Database

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Variant: RGD:9683835 -  Homo sapiens

RGD ID: 9683835
RS ID: rs587784396
ClinVar ID: CV167991
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC2A1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 43,395,383
GRCh38 1 42,929,712
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.34465C>T
NC_000001.11:g.42929712G>A
NC_000001.10:g.43395383G>A
NP_006507.2:p.Gln250Ter
More... 		04/11/2023 nonsense 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; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC2A1
Accession:NM_006516
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 250
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPSSKKLTGRLMLAVGGAVLGSLQFGYNTGVINAPQKVIEEFYNQTWVHRYGESILPTTLTTLWSLSVAIFSVGGMIGS
FSVGLFVNRFGRRNSMLMMNLLAFVSAVLMGFSKLGKSFEMLILGRFIIGVYCGLTTGFVPMYVGEVSPTALRGALGTLH
QLGIVVGILIAQVFGLDSIMGNKDLWPLLLSIIFIPALLQCIVLPFCPESPRFLLINRNEENRAKSVLKKLRGTADVTHD
LQEMKEESR*MMREKKVTILELFRSPAYRQPILIAVVLQLSQQLSGINAVFYYSTSIFEKAGVQQPVYATIGSGIVNTAF
TVVSLFVVERAGRRTLHLIGLAGMAGCAILMTIALALLEQLPWMSYLSIVAIFGFVAFFEVGPGPIPWFIVAELFSQGPR
PAAIAVAGFSNWTSNFIVGMCFQYVEQLCGPYVFIIFTVLLVLFFIFTYFKVPETKGRTFDEIASGFRQGGASQSDKTPE
ELFHPLGADSQV*
Variant Samples
Additional References at PubMed
PMID:18414213   PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000147531 CLINVAR
  RCV000189359 CLINVAR
dbSNP (RS) rs587784396 CLINVAR
MedGen C3661900 CLINVAR
  C4551966 CLINVAR
NCBI Gene SLC2A1 CLINVAR
OMIM 138140 CLINVAR
  606777 CLINVAR