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rs386833690

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833690(A;A)
Make rs386833690(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position49417964
GeneAMT
is asnp
is mentioned by
dbSNPrs386833690
ebirs386833690
HLIrs386833690
Exacrs386833690
Varsomers386833690
Maprs386833690
PheGenIrs386833690
hapmaprs386833690
1000 genomesrs386833690
hgdprs386833690
ensemblrs386833690
gopubmedrs386833690
geneviewrs386833690
scholarrs386833690
googlers386833690
pharmgkbrs386833690
gwascentralrs386833690
openSNPrs386833690
23andMers386833690
23andMe allrs386833690
SNP Nexus

SNPshotrs386833690
SNPdbers386833690
MSV3drs386833690
GWAS Ctlgrs386833690
Max Magnitude0
ClinVar
Risk rs386833690(A;A)
Alt rs386833690(A;A)
Reference rs386833690(G;G)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene AMT
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000003.11:g.49455397C>T
CLNSRC ClinVar
CLNACC RCV000049651.1,


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