Have questions? Visit https://www.reddit.com/r/SNPedia

rs386833685

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833685(-;-)
Make rs386833685(-;C)
ReferenceGRCh38 38.1/141
Chromosome3
Position49419725
GeneAMT
is asnp
is mentioned by
dbSNPrs386833685
ebirs386833685
HLIrs386833685
Exacrs386833685
Varsomers386833685
Maprs386833685
PheGenIrs386833685
hapmaprs386833685
1000 genomesrs386833685
hgdprs386833685
ensemblrs386833685
gopubmedrs386833685
geneviewrs386833685
scholarrs386833685
googlers386833685
pharmgkbrs386833685
gwascentralrs386833685
openSNPrs386833685
23andMers386833685
23andMe allrs386833685
SNP Nexus

SNPshotrs386833685
SNPdbers386833685
MSV3drs386833685
GWAS Ctlgrs386833685
Max Magnitude0
ClinVar
Risk rs386833685(;)
Alt rs386833685(;)
Reference rs386833685(C;C)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene AMT
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000003.11:g.49457158delG
CLNSRC ClinVar
CLNACC RCV000049646.1,


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