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rs386833689

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386833689(A;G)
Make rs386833689(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position49419282
GeneAMT
is asnp
is mentioned by
dbSNPrs386833689
ebirs386833689
HLIrs386833689
Exacrs386833689
Varsomers386833689
Maprs386833689
PheGenIrs386833689
hapmaprs386833689
1000 genomesrs386833689
hgdprs386833689
ensemblrs386833689
gopubmedrs386833689
geneviewrs386833689
scholarrs386833689
googlers386833689
pharmgkbrs386833689
gwascentralrs386833689
openSNPrs386833689
23andMers386833689
23andMe allrs386833689
SNP Nexus

SNPshotrs386833689
SNPdbers386833689
MSV3drs386833689
GWAS Ctlgrs386833689
Max Magnitude0
ClinVar
Risk rs386833689(G;G)
Alt rs386833689(G;G)
Reference rs386833689(A;A)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene AMT
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000003.11:g.49456715T>C
CLNSRC ClinVar
CLNACC RCV000049650.1,


[PMID 12948742] Molecular genetic and potential biochemical characteristics of patients with T-protein deficiency as a cause of glycine encephalopathy (NKH).