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rs386833556

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833556(C;T)
Make rs386833556(T;T)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position6553457
GeneGLDC
is asnp
is mentioned by
dbSNPrs386833556
ebirs386833556
HLIrs386833556
Exacrs386833556
Varsomers386833556
Maprs386833556
PheGenIrs386833556
hapmaprs386833556
1000 genomesrs386833556
hgdprs386833556
ensemblrs386833556
gopubmedrs386833556
geneviewrs386833556
scholarrs386833556
googlers386833556
pharmgkbrs386833556
gwascentralrs386833556
openSNPrs386833556
23andMers386833556
23andMe allrs386833556
SNP Nexus

SNPshotrs386833556
SNPdbers386833556
MSV3drs386833556
GWAS Ctlgrs386833556
Max Magnitude0
ClinVar
Risk rs386833556(T;T)
Alt rs386833556(T;T)
Reference rs386833556(C;C)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000009.11:g.6553457G>A
CLNSRC ClinVar
CLNACC RCV000049484.1,


[PMID 15192636] Mild variant of nonketotic hyperglycinemia with typical neonatal presentations: mutational and in vitro expression analyses in two patients.