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rs386833545

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386833545(A;G)
Make rs386833545(G;G)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position6554783
GeneGLDC
is asnp
is mentioned by
dbSNPrs386833545
ebirs386833545
HLIrs386833545
Exacrs386833545
Varsomers386833545
Maprs386833545
PheGenIrs386833545
hapmaprs386833545
1000 genomesrs386833545
hgdprs386833545
ensemblrs386833545
gopubmedrs386833545
geneviewrs386833545
scholarrs386833545
googlers386833545
pharmgkbrs386833545
gwascentralrs386833545
openSNPrs386833545
23andMers386833545
23andMe allrs386833545
SNP Nexus

SNPshotrs386833545
SNPdbers386833545
MSV3drs386833545
GWAS Ctlgrs386833545
Max Magnitude0
ClinVar
Risk rs386833545(G;G)
Alt rs386833545(G;G)
Reference rs386833545(A;A)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000009.11:g.6554783T>C
CLNSRC ClinVar
CLNACC RCV000049473.1,


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


[PMID 16450403] Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia.