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rs386833529

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386833529(A;G)
Make rs386833529(G;G)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position6588629
GeneGLDC
is asnp
is mentioned by
dbSNPrs386833529
ebirs386833529
HLIrs386833529
Exacrs386833529
Varsomers386833529
Maprs386833529
PheGenIrs386833529
hapmaprs386833529
1000 genomesrs386833529
hgdprs386833529
ensemblrs386833529
gopubmedrs386833529
geneviewrs386833529
scholarrs386833529
googlers386833529
pharmgkbrs386833529
gwascentralrs386833529
openSNPrs386833529
23andMers386833529
23andMe allrs386833529
SNP Nexus

SNPshotrs386833529
SNPdbers386833529
MSV3drs386833529
GWAS Ctlgrs386833529
Max Magnitude0
ClinVar
Risk rs386833529(G;G)
Alt rs386833529(G;G)
Reference rs386833529(A;A)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000009.11:g.6588629T>C
CLNSRC ClinVar
CLNACC RCV000049457.1,


[PMID 20933183] A novel missense mutation in a neonate with nonketotic hyperglycinemia.