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rs386833682

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386833682(A;T)
Make rs386833682(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position49420248
GeneAMT
is asnp
is mentioned by
dbSNPrs386833682
ebirs386833682
HLIrs386833682
Exacrs386833682
Varsomers386833682
Maprs386833682
PheGenIrs386833682
hapmaprs386833682
1000 genomesrs386833682
hgdprs386833682
ensemblrs386833682
gopubmedrs386833682
geneviewrs386833682
scholarrs386833682
googlers386833682
pharmgkbrs386833682
gwascentralrs386833682
openSNPrs386833682
23andMers386833682
23andMe allrs386833682
SNP Nexus

SNPshotrs386833682
SNPdbers386833682
MSV3drs386833682
GWAS Ctlgrs386833682
Max Magnitude0
ClinVar
Risk rs386833682(T;T)
Alt rs386833682(T;T)
Reference rs386833682(A;A)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene AMT
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000003.11:g.49457681T>A
CLNSRC ClinVar
CLNACC RCV000049643.1,


[PMID 11286506] Recurrent mutations in P- and T-proteins of the glycine cleavage complex and a novel T-protein mutation (N145I): a strategy for the molecular investigation of patients with nonketotic hyperglycinemia (NKH).