RGD:28890935 Rat Genome Database

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Variant: RGD:28890935 -  Homo sapiens

RGD ID: 28890935
RS ID: rs1051315462
ClinVar ID: CV862877
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GLUL  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 182,351,412
GRCh38 1 182,382,277
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001033044.4:c.*2128C>T
NM_002065.5:c.*2128C>T
NC_000001.11:g.182382277G>A
NC_000001.10:g.182351412G>A
More... 		01/13/2018 3 prime utr variant uncertain significance Glutamine deficiency, congenital; GLUTAMINE SYNTHASE DEFICIENCY, CONGENITAL SYSTEMIC; Glutamine synthetase deficiency, congenital systemic
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GLUL
Accession:NM_001033056
Location:3UTRS;EXON

Gene Symbol:GLUL
Accession:NM_001033044
Location:3UTRS;EXON

Gene Symbol:GLUL
Accession:NM_002065
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001099987 CLINVAR
dbSNP (RS) rs1051315462 CLINVAR
MedGen C1864910 CLINVAR
NCBI Gene GLUL CLINVAR
OMIM 138290 CLINVAR
  610015 CLINVAR