rs80358214

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs80358214(C;T)

Make rs80358214(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

182384557

Gene

GLUL

is a	snp
is	mentioned by
dbSNP	rs80358214
dbSNP (classic)	rs80358214
ClinGen	rs80358214
ebi	rs80358214
HLI	rs80358214
Exac	rs80358214
Gnomad	rs80358214
Varsome	rs80358214
LitVar	rs80358214
Map	rs80358214
PheGenI	rs80358214
Biobank	rs80358214
1000 genomes	rs80358214
hgdp	rs80358214
ensembl	rs80358214
geneview	rs80358214
scholar	rs80358214
google	rs80358214
pharmgkb	rs80358214
gwascentral	rs80358214
openSNP	rs80358214
23andMe	rs80358214
SNPshot	rs80358214
SNPdbe	rs80358214
MSV3d	rs80358214
GWAS Ctlg	rs80358214

Max Magnitude

0

OMIM	138290
Desc
Variant	0001
Related	also

ClinVar
Risk	rs80358214(A;A) rs80358214(T;T)
Alt	rs80358214(A;A) rs80358214(T;T)
Reference	Rs80358214(C;C)
Significance	Pathogenic
Disease	Glutamine deficiency
Variation	info
Gene	GLUL
CLNDBN	Glutamine deficiency, congenital
Reversed	1
HGVS	NC_000001.10:g.182353692G>A; NC_000001.10:g.182353692G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000017463.26, RCV000022586.27,