rs386833859

Orientation

minus

Stabilized

minus

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

Make rs386833859(G;T)

Make rs386833859(T;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

81082964

Gene

GCSH

is a	snp
is	mentioned by
dbSNP	rs386833859
dbSNP (classic)	rs386833859
ClinGen	rs386833859
ebi	rs386833859
HLI	rs386833859
Exac	rs386833859
Gnomad	rs386833859
Varsome	rs386833859
LitVar	rs386833859
Map	rs386833859
PheGenI	rs386833859
Biobank	rs386833859
1000 genomes	rs386833859
hgdp	rs386833859
ensembl	rs386833859
geneview	rs386833859
scholar	rs386833859
google	rs386833859
pharmgkb	rs386833859
gwascentral	rs386833859
openSNP	rs386833859
23andMe	rs386833859
SNPshot	rs386833859
SNPdbe	rs386833859
MSV3d	rs386833859
GWAS Ctlg	rs386833859

Max Magnitude

0

ClinVar
Risk	rs386833859(T;T)
Alt	rs386833859(T;T)
Reference	Rs386833859(G;G)
Significance	Probable-Pathogenic
Disease	Non-ketotic hyperglycinemia
Variation	info
Gene	GCSH
CLNDBN	Non-ketotic hyperglycinemia
Reversed	1
HGVS	NC_000016.9:g.81116569C>A
CLNSRC	ClinVar
CLNACC	RCV000049828.1,

[PMID 12402263] Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemia.