Have questions? Visit https://www.reddit.com/r/SNPedia

rs386833519

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833519(C;G)
Make rs386833519(G;G)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position6602153
GeneGLDC
is asnp
is mentioned by
dbSNPrs386833519
ebirs386833519
HLIrs386833519
Exacrs386833519
Varsomers386833519
Maprs386833519
PheGenIrs386833519
hapmaprs386833519
1000 genomesrs386833519
hgdprs386833519
ensemblrs386833519
gopubmedrs386833519
geneviewrs386833519
scholarrs386833519
googlers386833519
pharmgkbrs386833519
gwascentralrs386833519
openSNPrs386833519
23andMers386833519
23andMe allrs386833519
SNP Nexus

SNPshotrs386833519
SNPdbers386833519
MSV3drs386833519
GWAS Ctlgrs386833519
Max Magnitude0
ClinVar
Risk rs386833519(G;G)
Alt rs386833519(G;G)
Reference rs386833519(C;C)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000009.11:g.6602153G>C
CLNSRC ClinVar
CLNACC RCV000049447.1,


[PMID 18581728] Non-ketotic hyperglycinemia with a novel GLDC mutation in a Taiwanese child.