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rs386833578

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386833578(A;C)
Make rs386833578(C;C)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position6620205
GeneGLDC
is asnp
is mentioned by
dbSNPrs386833578
ebirs386833578
HLIrs386833578
Exacrs386833578
Varsomers386833578
Maprs386833578
PheGenIrs386833578
hapmaprs386833578
1000 genomesrs386833578
hgdprs386833578
ensemblrs386833578
gopubmedrs386833578
geneviewrs386833578
scholarrs386833578
googlers386833578
pharmgkbrs386833578
gwascentralrs386833578
openSNPrs386833578
23andMers386833578
23andMe allrs386833578
SNP Nexus

SNPshotrs386833578
SNPdbers386833578
MSV3drs386833578
GWAS Ctlgrs386833578
Max Magnitude0
ClinVar
Risk rs386833578(C;C)
Alt rs386833578(C;C)
Reference rs386833578(A;A)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000009.11:g.6620205T>G
CLNSRC ClinVar
CLNACC RCV000049505.1,


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