rs121964975

Orientation

minus

Stabilized

minus

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

Make rs121964975(TTC;TTC)

Reference

GRCh37 37.1/132

Chromosome

9

Position

6554716

Gene

GLDC

is a	snp
is	mentioned by
dbSNP	rs121964975
dbSNP (classic)	rs121964975
ClinGen	rs121964975
ebi	rs121964975
HLI	rs121964975
Exac	rs121964975
Gnomad	rs121964975
Varsome	rs121964975
LitVar	rs121964975
Map	rs121964975
PheGenI	rs121964975
Biobank	rs121964975
1000 genomes	rs121964975
hgdp	rs121964975
ensembl	rs121964975
geneview	rs121964975
scholar	rs121964975
google	rs121964975
pharmgkb	rs121964975
gwascentral	rs121964975
openSNP	rs121964975
23andMe	rs121964975
SNPshot	rs121964975
SNPdbe	rs121964975
MSV3d	rs121964975
GWAS Ctlg	rs121964975

Merged from

Rs386833548

Max Magnitude

8.8

c.2267_2269delTCT (p.Phe756del)

OMIM	238300
Desc
Variant	0002
Related	also

ClinVar
Risk	Rs121964975(TCT;TCT) Rs121964975(-;-)
Alt	Rs121964975(TCT;TCT) Rs121964975(-;-)
Reference	rs121964975(TTC;TTC)
Significance	Other
Disease	Non-ketotic hyperglycinemia
Variation	info
Gene	GLDC
CLNDBN	Non-ketotic hyperglycinemia
Reversed	1
HGVS	NC_000009.11:g.6554715_6554717delAGA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000049476.2,