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rs386833589

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833589(C;C)
Make rs386833589(C;G)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position6605145
GeneGLDC
is asnp
is mentioned by
dbSNPrs386833589
ebirs386833589
HLIrs386833589
Exacrs386833589
Varsomers386833589
Maprs386833589
PheGenIrs386833589
hapmaprs386833589
1000 genomesrs386833589
hgdprs386833589
ensemblrs386833589
gopubmedrs386833589
geneviewrs386833589
scholarrs386833589
googlers386833589
pharmgkbrs386833589
gwascentralrs386833589
openSNPrs386833589
23andMers386833589
23andMe allrs386833589
SNP Nexus

SNPshotrs386833589
SNPdbers386833589
MSV3drs386833589
GWAS Ctlgrs386833589
Max Magnitude0
ClinVar
Risk rs386833589(C;C)
Alt rs386833589(C;C)
Reference rs386833589(G;G)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000009.11:g.6605145C>G
CLNSRC ClinVar
CLNACC RCV000049515.1,


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