rs386833549

Orientation

minus

Stabilized

minus

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

Reference

GRCh37.p10 37.5/138

Chromosome

9

Position

6554703

Gene

GLDC

is a	snp
is	mentioned by
dbSNP	rs386833549
dbSNP (classic)	rs386833549
ClinGen	rs386833549
ebi	rs386833549
HLI	rs386833549
Exac	rs386833549
Gnomad	rs386833549
Varsome	rs386833549
LitVar	rs386833549
Map	rs386833549
PheGenI	rs386833549
Biobank	rs386833549
1000 genomes	rs386833549
hgdp	rs386833549
ensembl	rs386833549
geneview	rs386833549
scholar	rs386833549
google	rs386833549
pharmgkb	rs386833549
gwascentral	rs386833549
openSNP	rs386833549
23andMe	rs386833549
SNPshot	rs386833549
SNPdbe	rs386833549
MSV3d	rs386833549
GWAS Ctlg	rs386833549

Max Magnitude

8.8

c.2281G>C (p.Gly761Arg)

ClinVar
Risk	rs386833549(A;A) Rs386833549(C;C)
Alt	rs386833549(A;A) Rs386833549(C;C)
Reference	Rs386833549(G;G)
Significance	Pathogenic
Disease	Non-ketotic hyperglycinemia
Variation	info
Gene	GLDC
CLNDBN	Non-ketotic hyperglycinemia
Reversed	1
HGVS	NC_000009.11:g.6554703C>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012766.23,