rs386833517

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Carrier of a glycine encephalopathy mutation
(T;T)	8.8	Glycine encephalopathy; Non-ketotic hyperglycinemia

Reference

GRCh37.p10 37.5/138

Chromosome

9

Position

6604637

Gene

GLDC

is a	snp
is	mentioned by
dbSNP	rs386833517
dbSNP (classic)	rs386833517
ClinGen	rs386833517
ebi	rs386833517
HLI	rs386833517
Exac	rs386833517
Gnomad	rs386833517
Varsome	rs386833517
LitVar	rs386833517
Map	rs386833517
PheGenI	rs386833517
Biobank	rs386833517
1000 genomes	rs386833517
hgdp	rs386833517
ensembl	rs386833517
geneview	rs386833517
scholar	rs386833517
google	rs386833517
pharmgkb	rs386833517
gwascentral	rs386833517
openSNP	rs386833517
23andMe	rs386833517
SNPshot	rs386833517
SNPdbe	rs386833517
MSV3d	rs386833517
GWAS Ctlg	rs386833517

Max Magnitude

8.8

c.1009C>T (p.Arg337Ter)

ClinVar
Risk	rs386833517(G;G) Rs386833517(T;T)
Alt	rs386833517(G;G) Rs386833517(T;T)
Reference	Rs386833517(C;C)
Significance	Pathogenic
Disease	Non-ketotic hyperglycinemia not provided
Variation	info
Gene	GLDC
CLNDBN	Non-ketotic hyperglycinemia not provided
Reversed	1
HGVS	NC_000009.11:g.6604637G>A
CLNSRC	ClinVar
CLNACC	RCV000049445.1, RCV000404397.1,

[PMID 16601880] Genetic heterogeneity of the GLDC gene in 28 unrelated patients with glycine encephalopathy.