rs386833550

Orientation

minus

Stabilized

minus

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

Reference

GRCh37.p10 37.5/138

Chromosome

9

Position

6554700

Gene

GLDC

is a	snp
is	mentioned by
dbSNP	rs386833550
dbSNP (classic)	rs386833550
ClinGen	rs386833550
ebi	rs386833550
HLI	rs386833550
Exac	rs386833550
Gnomad	rs386833550
Varsome	rs386833550
LitVar	rs386833550
Map	rs386833550
PheGenI	rs386833550
Biobank	rs386833550
1000 genomes	rs386833550
hgdp	rs386833550
ensembl	rs386833550
geneview	rs386833550
scholar	rs386833550
google	rs386833550
pharmgkb	rs386833550
gwascentral	rs386833550
openSNP	rs386833550
23andMe	rs386833550
SNPshot	rs386833550
SNPdbe	rs386833550
MSV3d	rs386833550
GWAS Ctlg	rs386833550

Max Magnitude

8.8

c.2284G>A (p.Gly762Arg)

ClinVar
Risk	Rs386833550(A;A)
Alt	Rs386833550(A;A)
Reference	Rs386833550(G;G)
Significance	Other
Disease	Non-ketotic hyperglycinemia
Variation	info
Gene	GLDC
CLNDBN	Non-ketotic hyperglycinemia
Reversed	1
HGVS	NC_000009.11:g.6554700C>T
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000049478.4,

[PMID 12126939] Novel mutations in the P-protein (glycine decarboxylase) gene in patients with glycine encephalopathy (non-ketotic hyperglycinemia).