RGD:11627460 Rat Genome Database

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Variant: RGD:11627460 -  Homo sapiens

RGD ID: 11627460
RS ID: rs8142324
ClinVar ID: CV347493
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC105373000  SLC5A1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 22 32,507,708
GRCh38 22 32,111,721
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NG_017045.1:g.73690C>A
NC_000022.11:g.32111721C>A
NC_000022.10:g.32507708C>A
NM_000343.4:c.*1508C>A
More... 		01/12/2018 3 prime utr variant benign|likely benign infancy Carbohydrate intolerance of glucose galactose; Complex carbohydrate intolerance; Glucose galactose malabsorption deficiency; Monosaccharide malabsorption
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC5A1
Accession:NM_001256314
Location:3UTRS;EXON

Gene Symbol:SLC5A1
Accession:NM_000343
Location:3UTRS;EXON

Gene Symbol:SLC5A1
Accession:XM_011530331
Location:INTRON

Gene Symbol:LOC105373000
Accession:XR_938172
Location:INTRON;NON-CODING

Gene Symbol:LOC105373000
Accession:XR_938171
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000282558 CLINVAR
dbSNP (RS) rs8142324 CLINVAR
MedGen C0268186 CLINVAR
NCBI Gene SLC5A1 CLINVAR
OMIM 182380 CLINVAR
  606824 CLINVAR
SNOMED CT 27943000 CLINVAR