RGD:11587805 Rat Genome Database

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Variant: RGD:11587805 -  Homo sapiens

RGD ID: 11587805
RS ID: rs187277313
ClinVar ID: CV278748
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GLUL  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 182,359,817
GRCh38 1 182,390,682
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.6525A>G
NC_000001.11:g.182390682T>C
NC_000001.10:g.182359817T>C
NM_002065.5:c.-199A>G
More... 		08/01/2022 5 prime utr variant likely benign|uncertain significance infancy <1 / 1 000 000 Glutamine deficiency, congenital; GLUTAMINE SYNTHASE DEFICIENCY, CONGENITAL SYSTEMIC; Glutamine synthetase deficiency, congenital systemic; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GLUL
Accession:NM_002065
Location:5UTRS;EXON

Gene Symbol:GLUL
Accession:NM_001033044
Location:5UTRS;INTRON

Gene Symbol:GLUL
Accession:NM_001033056
Location:5UTRS;INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000298020 CLINVAR
  RCV003417934 CLINVAR
dbSNP (RS) rs187277313 CLINVAR
MedGen C1864910 CLINVAR
  C3661900 CLINVAR
NCBI Gene GLUL CLINVAR
OMIM 138290 CLINVAR
  610015 CLINVAR