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rs386833553

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833553(A;A)
Make rs386833553(A;G)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position6554673
GeneGLDC
is asnp
is mentioned by
dbSNPrs386833553
ebirs386833553
HLIrs386833553
Exacrs386833553
Varsomers386833553
Maprs386833553
PheGenIrs386833553
hapmaprs386833553
1000 genomesrs386833553
hgdprs386833553
ensemblrs386833553
gopubmedrs386833553
geneviewrs386833553
scholarrs386833553
googlers386833553
pharmgkbrs386833553
gwascentralrs386833553
openSNPrs386833553
23andMers386833553
23andMe allrs386833553
SNP Nexus

SNPshotrs386833553
SNPdbers386833553
MSV3drs386833553
GWAS Ctlgrs386833553
Max Magnitude0
ClinVar
Risk rs386833553(A;A)
Alt rs386833553(A;A)
Reference rs386833553(G;G)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000009.11:g.6554673C>T
CLNSRC ClinVar
CLNACC RCV000049481.1,


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


[PMID 16601880] Genetic heterogeneity of the GLDC gene in 28 unrelated patients with glycine encephalopathy.