RGD:28896351 Rat Genome Database

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Variant: RGD:28896351 -  Homo sapiens

RGD ID: 28896351
RS ID: rs1650374122
ClinVar ID: CV862899
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GLUL  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 182,359,816
GRCh38 1 182,390,681
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.-14+494C>T
NM_002065.7:c.-198C>T
NM_001033044.4:c.-14+998C>T
NG_013347.2:g.6526C>T
More... 		01/13/2018 5 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_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 RCV001102177 CLINVAR
dbSNP (RS) rs1650374122 CLINVAR
MedGen C1864910 CLINVAR
NCBI Gene GLUL CLINVAR
OMIM 138290 CLINVAR
  610015 CLINVAR