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rs386833677

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833677(C;T)
Make rs386833677(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position49422505
GeneAMT, NICN1
is asnp
is mentioned by
dbSNPrs386833677
ebirs386833677
HLIrs386833677
Exacrs386833677
Varsomers386833677
Maprs386833677
PheGenIrs386833677
hapmaprs386833677
1000 genomesrs386833677
hgdprs386833677
ensemblrs386833677
gopubmedrs386833677
geneviewrs386833677
scholarrs386833677
googlers386833677
pharmgkbrs386833677
gwascentralrs386833677
openSNPrs386833677
23andMers386833677
23andMe allrs386833677
SNP Nexus

SNPshotrs386833677
SNPdbers386833677
MSV3drs386833677
GWAS Ctlgrs386833677
Max Magnitude0
ClinVar
Risk rs386833677(T;T)
Alt rs386833677(T;T)
Reference rs386833677(C;C)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene NICN1 AMT
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000003.11:g.49459938G>A
CLNSRC ClinVar
CLNACC RCV000049637.1,


[PMID 19299230] Atypical glycine encephalopathy in an extremely low birth weight infant: description of a new mutation and clinical and electroencephalographic analysis.