RGD:28880864 Rat Genome Database

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Variant: RGD:28880864 -  Homo sapiens

RGD ID: 28880864
RS ID: rs1222418916
ClinVar ID: CV862893
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GLUL  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 182,353,251
GRCh38 1 182,384,116
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001033056.4:c.*289G>T
NM_002065.7:c.*289G>T
NG_013347.2:g.13091G>T
NM_002065.5:c.*289G>T
More... 		04/27/2017 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_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 RCV001096678 CLINVAR
dbSNP (RS) rs1222418916 CLINVAR
MedGen C1864910 CLINVAR
NCBI Gene GLUL CLINVAR
OMIM 138290 CLINVAR
  610015 CLINVAR