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

rs386833517

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a glycine encephalopathy mutation
(T;T) 8.8 Glycine encephalopathy; Non-ketotic hyperglycinemia
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position6604637
GeneGLDC
is asnp
is mentioned by
dbSNPrs386833517
ClinGenrs386833517
ebirs386833517
HLIrs386833517
Exacrs386833517
Varsomers386833517
Maprs386833517
PheGenIrs386833517
hapmaprs386833517
1000 genomesrs386833517
hgdprs386833517
ensemblrs386833517
gopubmedrs386833517
geneviewrs386833517
scholarrs386833517
googlers386833517
pharmgkbrs386833517
gwascentralrs386833517
openSNPrs386833517
23andMers386833517
23andMe allrs386833517
SNP Nexus

SNPshotrs386833517
SNPdbers386833517
MSV3drs386833517
GWAS Ctlgrs386833517
Max Magnitude8.8

c.1009C>T (p.Arg337Ter)

ClinVar
Risk rs386833517(G;G) Rs386833517(T;T)
Alt rs386833517(G;G) Rs386833517(T;T)
Reference Rs386833517(C;C)
Significance Pathogenic
Disease Non-ketotic hyperglycinemia not provided
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia not provided
Reversed 1
HGVS NC_000009.11:g.6604637G>A
CLNSRC ClinVar
CLNACC RCV000049445.1, RCV000404397.1,


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