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rs386833691

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(ATG;ATG) 0 common in clinvar
Make rs386833691(-;-)
Make rs386833691(-;ATG)
ReferenceGRCh38 38.1/141
Chromosome3
Position49417879
GeneAMT
is asnp
is mentioned by
dbSNPrs386833691
ebirs386833691
HLIrs386833691
Exacrs386833691
Varsomers386833691
Maprs386833691
PheGenIrs386833691
hapmaprs386833691
1000 genomesrs386833691
hgdprs386833691
ensemblrs386833691
gopubmedrs386833691
geneviewrs386833691
scholarrs386833691
googlers386833691
pharmgkbrs386833691
gwascentralrs386833691
openSNPrs386833691
23andMers386833691
23andMe allrs386833691
SNP Nexus

SNPshotrs386833691
SNPdbers386833691
MSV3drs386833691
GWAS Ctlgrs386833691
Max Magnitude0
ClinVar
Risk rs386833691(;)
Alt rs386833691(;)
Reference rs386833691(ATG;ATG)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene AMT
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000003.11:g.49455312_49455314delCAT
CLNSRC ClinVar
CLNACC RCV000049652.1,


[PMID 16450403] Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia.