RGD:126730838 Rat Genome Database

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Variant: RGD:126730838 -  Homo sapiens

RGD ID: 126730838
RS ID: rs1643442833
ClinVar ID: CV1019379
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC2A1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 43,393,407
GRCh38 1 42,927,736
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_006516.4:c.1147C>T
LRG_1132:g.36441C>T
NG_008232.1:g.36441C>T
NC_000001.11:g.42927736G>A
More... 		01/13/2018 missense variant uncertain significance CHOREOATHETOSIS, KINESIGENIC, WITH EPISODIC ATAXIA AND SPASTICITY
Disease Annotations     Click to see Annotation Detail View
dystonia 9  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:SLC2A1
Accession:NM_006516
Location:EXON
Amino Acid Prediction: P to S (nonsynonymous)
Amino Acid Position: 383
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPSSKKLTGRLMLAVGGAVLGSLQFGYNTGVINAPQKVIEEFYNQTWVHRYGESILPTTLTTLWSLSVAIFSVGGMIGS
FSVGLFVNRFGRRNSMLMMNLLAFVSAVLMGFSKLGKSFEMLILGRFIIGVYCGLTTGFVPMYVGEVSPTALRGALGTLH
QLGIVVGILIAQVFGLDSIMGNKDLWPLLLSIIFIPALLQCIVLPFCPESPRFLLINRNEENRAKSVLKKLRGTADVTHD
LQEMKEESRQMMREKKVTILELFRSPAYRQPILIAVVLQLSQQLSGINAVFYYSTSIFEKAGVQQPVYATIGSGIVNTAF
TVVSLFVVERAGRRTLHLIGLAGMAGCAILMTIALALLEQLPWMSYLSIVAIFGFVAFFEVGSGPIPWFIVAELFSQGPR
PAAIAVAGFSNWTSNFIVGMCFQYVEQLCGPYVFIIFTVLLVLFFIFTYFKVPETKGRTFDEIASGFRQGGASQSDKTPE
ELFHPLGADSQV*
Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001333545 CLINVAR
dbSNP (RS) rs1643442833 CLINVAR
MedGen C1832855 CLINVAR
NCBI Gene SLC2A1 CLINVAR
OMIM 138140 CLINVAR
  601042 CLINVAR