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rs386833859

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833859(G;T)
Make rs386833859(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position81082964
GeneGCSH
is asnp
is mentioned by
dbSNPrs386833859
ebirs386833859
HLIrs386833859
Exacrs386833859
Varsomers386833859
Maprs386833859
PheGenIrs386833859
hapmaprs386833859
1000 genomesrs386833859
hgdprs386833859
ensemblrs386833859
gopubmedrs386833859
geneviewrs386833859
scholarrs386833859
googlers386833859
pharmgkbrs386833859
gwascentralrs386833859
openSNPrs386833859
23andMers386833859
23andMe allrs386833859
SNP Nexus

SNPshotrs386833859
SNPdbers386833859
MSV3drs386833859
GWAS Ctlgrs386833859
Max Magnitude0
ClinVar
Risk rs386833859(T;T)
Alt rs386833859(T;T)
Reference rs386833859(G;G)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene GCSH
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000016.9:g.81116569C>A
CLNSRC ClinVar
CLNACC RCV000049828.1,


[PMID 12402263] Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemia.