rs121964977

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

6553420

Gene

GLDC

is a	snp
is	mentioned by
dbSNP	rs121964977
dbSNP (classic)	rs121964977
ClinGen	rs121964977
ebi	rs121964977
HLI	rs121964977
Exac	rs121964977
Gnomad	rs121964977
Varsome	rs121964977
LitVar	rs121964977
Map	rs121964977
PheGenI	rs121964977
Biobank	rs121964977
1000 genomes	rs121964977
hgdp	rs121964977
ensembl	rs121964977
geneview	rs121964977
scholar	rs121964977
google	rs121964977
pharmgkb	rs121964977
gwascentral	rs121964977
openSNP	rs121964977
23andMe	rs121964977
SNPshot	rs121964977
SNPdbe	rs121964977
MSV3d	rs121964977
GWAS Ctlg	rs121964977

Max Magnitude

8.8

c.2405C>T (p.Ala802Val)

23andMe calls this i5007984

OMIM	238300
Desc
Variant	0006
Related	also

ClinVar
Risk	Rs121964977(T;T)
Alt	Rs121964977(T;T)
Reference	Rs121964977(C;C)
Significance	Pathogenic
Disease	Non-ketotic hyperglycinemia
Variation	info
Gene	GLDC
CLNDBN	Non-ketotic hyperglycinemia
Reversed	1
HGVS	NC_000009.11:g.6553420G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012767.22,