rs386833541

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(ATC;ATC)	0	common in clinvar

Make rs386833541(ATC;TCCTGGTTTA)

Make rs386833541(TCCTGGTTTA;TCCTGGTTTA)

Reference

GRCh37.p10 37.5/138

Chromosome

9

Position

6556200

Gene

GLDC

is a	snp
is	mentioned by
dbSNP	rs386833541
dbSNP (classic)	rs386833541
ClinGen	rs386833541
ebi	rs386833541
HLI	rs386833541
Exac	rs386833541
Gnomad	rs386833541
Varsome	rs386833541
LitVar	rs386833541
Map	rs386833541
PheGenI	rs386833541
Biobank	rs386833541
1000 genomes	rs386833541
hgdp	rs386833541
ensembl	rs386833541
geneview	rs386833541
scholar	rs386833541
google	rs386833541
pharmgkb	rs386833541
gwascentral	rs386833541
openSNP	rs386833541
23andMe	rs386833541
SNPshot	rs386833541
SNPdbe	rs386833541
MSV3d	rs386833541
GWAS Ctlg	rs386833541

Max Magnitude

0

ClinVar
Risk	rs386833541(TCCTGGTTTA;TCCTGGTTTA)
Alt	rs386833541(TCCTGGTTTA;TCCTGGTTTA)
Reference	Rs386833541(ATC;ATC)
Significance	Probable-Pathogenic
Disease	Non-ketotic hyperglycinemia
Variation	info
Gene	GLDC
CLNDBN	Non-ketotic hyperglycinemia
Reversed	1
HGVS	NC_000009.11:g.6556200_6556202delGATinsTAAACCAGGA
CLNSRC	ClinVar
CLNACC	RCV000049469.1,

[PMID 16601880] Genetic heterogeneity of the GLDC gene in 28 unrelated patients with glycine encephalopathy.