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rs386833692

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GC;GC) 0 common in clinvar
Make rs386833692(GC;T)
Make rs386833692(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position49417868
GeneAMT
is asnp
is mentioned by
dbSNPrs386833692
ebirs386833692
HLIrs386833692
Exacrs386833692
Varsomers386833692
Maprs386833692
PheGenIrs386833692
hapmaprs386833692
1000 genomesrs386833692
hgdprs386833692
ensemblrs386833692
gopubmedrs386833692
geneviewrs386833692
scholarrs386833692
googlers386833692
pharmgkbrs386833692
gwascentralrs386833692
openSNPrs386833692
23andMers386833692
23andMe allrs386833692
SNP Nexus

SNPshotrs386833692
SNPdbers386833692
MSV3drs386833692
GWAS Ctlgrs386833692
Max Magnitude0
ClinVar
Risk rs386833692(T;T)
Alt rs386833692(T;T)
Reference rs386833692(GC;GC)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene AMT
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000003.11:g.49455301_49455302delGCinsA
CLNSRC ClinVar
CLNACC RCV000049653.1,


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