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rs121964978

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 8.8 Glycine encephalopathy; Non-ketotic hyperglycinemia
(C;T) 3 Carrier of a glycine encephalopathy mutation
(T;T) 0 common in clinvar
ReferenceGRCh37 37.1/132
Chromosome9
Position6645498
GeneGLDC
is asnp
is mentioned by
dbSNPrs121964978
dbSNP (old)rs121964978
ClinGenrs121964978
ebirs121964978
HLIrs121964978
Exacrs121964978
Varsomers121964978
Maprs121964978
PheGenIrs121964978
Biobankrs121964978
1000 genomesrs121964978
hgdprs121964978
ensemblrs121964978
gopubmedrs121964978
geneviewrs121964978
scholarrs121964978
googlers121964978
pharmgkbrs121964978
gwascentralrs121964978
openSNPrs121964978
23andMers121964978
23andMe allrs121964978
SNP Nexus

SNPshotrs121964978
SNPdbers121964978
MSV3drs121964978
GWAS Ctlgrs121964978
Max Magnitude8.8

c.2T>C (p.Met1Thr)

23andMe calls this i5007985

OMIM238300
Desc
Variant0007
Relatedalso
ClinVar
Risk Rs121964978(C;C)
Alt Rs121964978(C;C)
Reference Rs121964978(T;T)
Significance Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000009.11:g.6645498A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000012768.16,