RGD:8565427 Rat Genome Database

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Variant: RGD:8565427 -  Homo sapiens

RGD ID: 8565427
RS ID: rs80359828
ClinVar ID: CV31146
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC2A1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 43,392,844
GRCh38 1 42,927,173
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.37004C>A
NC_000001.11:g.42927173G>T
NC_000001.10:g.43392844G>T
NP_006507.2:p.Tyr449Ter
More... 		10/22/2012 nonsense|stop-gain 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:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 449
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPSSKKLTGRLMLAVGGAVLGSLQFGYNTGVINAPQKVIEEFYNQTWVHRYGESILPTTLTTLWSLSVAIFSVGGMIGS
FSVGLFVNRFGRRNSMLMMNLLAFVSAVLMGFSKLGKSFEMLILGRFIIGVYCGLTTGFVPMYVGEVSPTALRGALGTLH
QLGIVVGILIAQVFGLDSIMGNKDLWPLLLSIIFIPALLQCIVLPFCPESPRFLLINRNEENRAKSVLKKLRGTADVTHD
LQEMKEESRQMMREKKVTILELFRSPAYRQPILIAVVLQLSQQLSGINAVFYYSTSIFEKAGVQQPVYATIGSGIVNTAF
TVVSLFVVERAGRRTLHLIGLAGMAGCAILMTIALALLEQLPWMSYLSIVAIFGFVAFFEVGPGPIPWFIVAELFSQGPR
PAAIAVAGFSNWTSNFIVGMCFQYVEQLCGPYVFIIFTVLLVLFFIFT*FKVPETKGRTFDEIASGFRQGGASQSDKTPE
ELFHPLGADSQV*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000017487 CLINVAR
dbSNP (RS) rs80359828 CLINVAR
MedGen C4551966 CLINVAR
NCBI Gene SLC2A1 CLINVAR
OMIM 138140 CLINVAR
  606777 CLINVAR
OMIM Allele 138140.0003 CLINVAR