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rs386833559

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386833559(G;G)
Make rs386833559(G;T)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position6645255
GeneGLDC
is asnp
is mentioned by
dbSNPrs386833559
ebirs386833559
HLIrs386833559
Exacrs386833559
Varsomers386833559
Maprs386833559
PheGenIrs386833559
hapmaprs386833559
1000 genomesrs386833559
hgdprs386833559
ensemblrs386833559
gopubmedrs386833559
geneviewrs386833559
scholarrs386833559
googlers386833559
pharmgkbrs386833559
gwascentralrs386833559
openSNPrs386833559
23andMers386833559
23andMe allrs386833559
SNP Nexus

SNPshotrs386833559
SNPdbers386833559
MSV3drs386833559
GWAS Ctlgrs386833559
Max Magnitude0
ClinVar
Risk rs386833559(G;G)
Alt rs386833559(G;G)
Reference rs386833559(T;T)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000009.11:g.6645255A>C
CLNSRC ClinVar
CLNACC RCV000049487.1,


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