{{Rsnum
|rsid=80358214
|Chromosome=1
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=GLUL
|position=182384557
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=GLUL
}}{{omim
|id=138290
|rsnum=80358214
|variant=0001
}}{{ClinVar
|rsid=80358214
|Reversed=1
|FwdREF=C
|FwdALT=A,T
|REF=G
|ALT=A,T
|RSPOS=182384557
|CHROM=1
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050260000a05000002110100
|GENEINFO=GLUL:2752
|GENE_NAME=GLUL
|GENE_ID=2752
|WGT=1
|VC=SNV
|CLNALLE=1; 2
|CLNHGVS=NC_000001.11:g.182384557G>A; NC_000001.11:g.182384557G>T
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NM_002065.5:c.970C>T; 138290.0001; NM_002065.5:c.970C>A; 138290.0003
|CLNSIG=5
|CLNCUI=C1864910
|CLNDBN=Glutamine deficiency, congenital
|Disease=Glutamine deficiency
|CLNACC=RCV000017463.25; RCV000022586.26
|Tags=RV;PM;S3D;NSM;REF;ASP;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C1864910:610015:ORPHA71278
}}