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rs386833686

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833686(-;-)
Make rs386833686(-;C)
ReferenceGRCh38 38.1/141
Chromosome3
Position49422392
GeneAMT, NICN1
is asnp
is mentioned by
dbSNPrs386833686
ebirs386833686
HLIrs386833686
Exacrs386833686
Varsomers386833686
Maprs386833686
PheGenIrs386833686
hapmaprs386833686
1000 genomesrs386833686
hgdprs386833686
ensemblrs386833686
gopubmedrs386833686
geneviewrs386833686
scholarrs386833686
googlers386833686
pharmgkbrs386833686
gwascentralrs386833686
openSNPrs386833686
23andMers386833686
23andMe allrs386833686
SNP Nexus

SNPshotrs386833686
SNPdbers386833686
MSV3drs386833686
GWAS Ctlgrs386833686
Max Magnitude0
ClinVar
Risk rs386833686(;)
Alt rs386833686(;)
Reference rs386833686(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.49459825delG
CLNSRC ClinVar
CLNACC RCV000049647.1,


[PMID 9621520] A one-base deletion (183delC) and a missense mutation (D276H) in the T-protein gene from a Japanese family with nonketotic hyperglycinemia.


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