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rs386833683

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AAGATTTGGCCCTCA;AAGATTTGGCCCTCA) 0 common in clinvar
Make rs386833683(-;-)
Make rs386833683(-;AAGATTTGGCCCTCA)
ReferenceGRCh38 38.1/141
Chromosome3
Position49420216
GeneAMT
is asnp
is mentioned by
dbSNPrs386833683
ebirs386833683
HLIrs386833683
Exacrs386833683
Varsomers386833683
Maprs386833683
PheGenIrs386833683
hapmaprs386833683
1000 genomesrs386833683
hgdprs386833683
ensemblrs386833683
gopubmedrs386833683
geneviewrs386833683
scholarrs386833683
googlers386833683
pharmgkbrs386833683
gwascentralrs386833683
openSNPrs386833683
23andMers386833683
23andMe allrs386833683
SNP Nexus

SNPshotrs386833683
SNPdbers386833683
MSV3drs386833683
GWAS Ctlgrs386833683
Max Magnitude0
ClinVar
Risk rs386833683(;)
Alt rs386833683(;)
Reference rs386833683(AAGATTTGGCCCTCA;AAGATTTGGCCCTCA)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene AMT
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000003.11:g.49457649_49457663delTGAGGGCCAAATCTT
CLNSRC ClinVar
CLNACC RCV000049644.1,


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