RGD:11594854 Rat Genome Database

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Variant: RGD:11594854 -  Homo sapiens

RGD ID: 11594854
RS ID: rs115448180
ClinVar ID: CV277589
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GLUL  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 182,352,176
GRCh38 1 182,383,041
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
NG_013347.2:g.14166G>A
NC_000001.11:g.182383041C>T
NC_000001.10:g.182352176C>T
NM_002065.5:c.*1364G>A
More... 		01/13/2018 3 prime utr variant benign|likely benign 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_002065
Location:3UTRS;EXON

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000364034 CLINVAR
dbSNP (RS) rs115448180 CLINVAR
MedGen C1864910 CLINVAR
NCBI Gene GLUL CLINVAR
OMIM 138290 CLINVAR
  610015 CLINVAR