rs386833545

Orientation

minus

Stabilized

minus

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

Make rs386833545(A;G)

Make rs386833545(G;G)

Reference

GRCh37.p10 37.5/138

Chromosome

9

Position

6554783

Gene

GLDC

is a	snp
is	mentioned by
dbSNP	rs386833545
dbSNP (classic)	rs386833545
ClinGen	rs386833545
ebi	rs386833545
HLI	rs386833545
Exac	rs386833545
Gnomad	rs386833545
Varsome	rs386833545
LitVar	rs386833545
Map	rs386833545
PheGenI	rs386833545
Biobank	rs386833545
1000 genomes	rs386833545
hgdp	rs386833545
ensembl	rs386833545
geneview	rs386833545
scholar	rs386833545
google	rs386833545
pharmgkb	rs386833545
gwascentral	rs386833545
openSNP	rs386833545
23andMe	rs386833545
SNPshot	rs386833545
SNPdbe	rs386833545
MSV3d	rs386833545
GWAS Ctlg	rs386833545

Max Magnitude

0

ClinVar
Risk	rs386833545(G;G)
Alt	rs386833545(G;G)
Reference	Rs386833545(A;A)
Significance	Probable-Pathogenic
Disease	Non-ketotic hyperglycinemia
Variation	info
Gene	GLDC
CLNDBN	Non-ketotic hyperglycinemia
Reversed	1
HGVS	NC_000009.11:g.6554783T>C
CLNSRC	ClinVar
CLNACC	RCV000049473.1,

[PMID 12126939] Novel mutations in the P-protein (glycine decarboxylase) gene in patients with glycine encephalopathy (non-ketotic hyperglycinemia).

[PMID 16450403] Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia.