RGD:28869766 Rat Genome Database

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Variant: RGD:28869766 -  Homo sapiens

RGD ID: 28869766
RS ID: rs769607196
ClinVar ID: CV891619
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC2A2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 3 170,727,875
GRCh38 3 171,010,086
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008108.1:g.21894T>C
NM_001278658.2:c.15-4T>C
NM_000340.2:c.372-4T>C
NM_000340.1:c.372-4T>C
More... 		03/16/2018 intron variant uncertain significance Fanconi syndrome with intestinal malabsorption and galactose intolerance; Glycogen storage disease due to GLUT2 deficiency; Glycogenosis Fanconi type; Hepatic glycogenosis with amino aciduria and glucosuria; HEPATIC GLYCOGENOSIS WITH FANCONI NEPHROPATHY; Hepatorenal glycogenosis with renal Fanconi syndrome; Pseudo-Phlorizin diabetes
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC2A2
Accession:NM_001278659
Location:5UTRS;INTRON

Gene Symbol:SLC2A2
Accession:XM_047448761
Location:5UTRS;INTRON

Gene Symbol:SLC2A2
Accession:XM_011513087
Location:INTRON

Gene Symbol:SLC2A2
Accession:NM_000340
Location:INTRON

Gene Symbol:SLC2A2
Accession:NM_001278658
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001145063 CLINVAR
dbSNP (RS) rs769607196 CLINVAR
MedGen C3495427 CLINVAR
NCBI Gene SLC2A2 CLINVAR
OMIM 138160 CLINVAR
  227810 CLINVAR
SNOMED CT 61598006 CLINVAR