rs121964978

Orientation

minus

Stabilized

minus

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

Reference

GRCh37 37.1/132

Chromosome

9

Position

6645498

Gene

GLDC

is a	snp
is	mentioned by
dbSNP	rs121964978
dbSNP (classic)	rs121964978
ClinGen	rs121964978
ebi	rs121964978
HLI	rs121964978
Exac	rs121964978
Gnomad	rs121964978
Varsome	rs121964978
LitVar	rs121964978
Map	rs121964978
PheGenI	rs121964978
Biobank	rs121964978
1000 genomes	rs121964978
hgdp	rs121964978
ensembl	rs121964978
geneview	rs121964978
scholar	rs121964978
google	rs121964978
pharmgkb	rs121964978
gwascentral	rs121964978
openSNP	rs121964978
23andMe	rs121964978
SNPshot	rs121964978
SNPdbe	rs121964978
MSV3d	rs121964978
GWAS Ctlg	rs121964978

Max Magnitude

8.8

c.2T>C (p.Met1Thr)

23andMe calls this i5007985

OMIM	238300
Desc
Variant	0007
Related	also

ClinVar
Risk	Rs121964978(C;C)
Alt	Rs121964978(C;C)
Reference	Rs121964978(T;T)
Significance	Pathogenic
Disease	Non-ketotic hyperglycinemia
Variation	info
Gene	GLDC
CLNDBN	Non-ketotic hyperglycinemia
Reversed	1
HGVS	NC_000009.11:g.6645498A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012768.16,