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rs386833518

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386833518(-;-)
Make rs386833518(-;A)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position6604592
GeneGLDC
is asnp
is mentioned by
dbSNPrs386833518
ebirs386833518
HLIrs386833518
Exacrs386833518
Varsomers386833518
Maprs386833518
PheGenIrs386833518
hapmaprs386833518
1000 genomesrs386833518
hgdprs386833518
ensemblrs386833518
gopubmedrs386833518
geneviewrs386833518
scholarrs386833518
googlers386833518
pharmgkbrs386833518
gwascentralrs386833518
openSNPrs386833518
23andMers386833518
23andMe allrs386833518
SNP Nexus

SNPshotrs386833518
SNPdbers386833518
MSV3drs386833518
GWAS Ctlgrs386833518
Max Magnitude0
ClinVar
Risk rs386833518(;)
Alt rs386833518(;)
Reference rs386833518(A;A)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000009.11:g.6604592delT
CLNSRC ClinVar
CLNACC RCV000049446.1,


[PMID 12126939] Novel mutations in the P-protein (glycine decarboxylase) gene in patients with glycine encephalopathy (non-ketotic hyperglycinemia).