rs121964979

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 37.1/132

Chromosome

9

Position

6595109

Gene

GLDC

is a	snp
is	mentioned by
dbSNP	rs121964979
dbSNP (classic)	rs121964979
ClinGen	rs121964979
ebi	rs121964979
HLI	rs121964979
Exac	rs121964979
Gnomad	rs121964979
Varsome	rs121964979
LitVar	rs121964979
Map	rs121964979
PheGenI	rs121964979
Biobank	rs121964979
1000 genomes	rs121964979
hgdp	rs121964979
ensembl	rs121964979
geneview	rs121964979
scholar	rs121964979
google	rs121964979
pharmgkb	rs121964979
gwascentral	rs121964979
openSNP	rs121964979
23andMe	rs121964979
SNPshot	rs121964979
SNPdbe	rs121964979
MSV3d	rs121964979
GWAS Ctlg	rs121964979

Max Magnitude

8.8

c.1166C>T (p.Ala389Val)

23andMe calls this i5007986

OMIM	238300
Desc
Variant	0008
Related	also

ClinVar
Risk	Rs121964979(T;T)
Alt	Rs121964979(T;T)
Reference	Rs121964979(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.6595109G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012769.17, RCV000482511.1,