RGD:11590162 Rat Genome Database

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Variant: RGD:11590162 -  Homo sapiens

RGD ID: 11590162
RS ID: rs184789378
ClinVar ID: CV278646
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GLUL  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 182,353,268
GRCh38 1 182,384,133
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
NM_002065.7:c.*272C>G
NG_013347.2:g.13074C>G
NC_000001.11:g.182384133G>C
NC_000001.10:g.182353268G>C
More... 		06/14/2016 3 prime utr variant uncertain significance infancy <1 / 1 000 000 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_001033044
Location:3UTRS;EXON

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

Gene Symbol:GLUL
Accession:NM_001033056
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000316471 CLINVAR
dbSNP (RS) rs184789378 CLINVAR
MedGen C1864910 CLINVAR
NCBI Gene GLUL CLINVAR
OMIM 138290 CLINVAR
  610015 CLINVAR