rs121964974

Orientation

minus

Stabilized

minus

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

Reference

GRCh37 37.1/132

Chromosome

9

Position

6588417

Gene

GLDC

is a	snp
is	mentioned by
dbSNP	rs121964974
dbSNP (classic)	rs121964974
ClinGen	rs121964974
ebi	rs121964974
HLI	rs121964974
Exac	rs121964974
Gnomad	rs121964974
Varsome	rs121964974
LitVar	rs121964974
Map	rs121964974
PheGenI	rs121964974
Biobank	rs121964974
1000 genomes	rs121964974
hgdp	rs121964974
ensembl	rs121964974
geneview	rs121964974
scholar	rs121964974
google	rs121964974
pharmgkb	rs121964974
gwascentral	rs121964974
openSNP	rs121964974
23andMe	rs121964974
SNPshot	rs121964974
SNPdbe	rs121964974
MSV3d	rs121964974
GWAS Ctlg	rs121964974

Max Magnitude

8.8

c.1691G>T (p.Ser564Ile)

OMIM	238300
Desc
Variant	0001
Related	also

ClinVar
Risk	Rs121964974(T;T)
Alt	Rs121964974(T;T)
Reference	Rs121964974(G;G)
Significance	Pathogenic
Disease	Non-ketotic hyperglycinemia
Variation	info
Gene	GLDC
CLNDBN	Non-ketotic hyperglycinemia
Reversed	1
HGVS	NC_000009.11:g.6588417C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012762.22,