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rs386833548

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TCT;TCT) 0 common in clinvar
Make rs386833548(-;-)
Make rs386833548(-;TCT)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position6554715
GeneGLDC
is asnp
is mentioned by
dbSNPrs386833548
ebirs386833548
HLIrs386833548
Exacrs386833548
Varsomers386833548
Maprs386833548
PheGenIrs386833548
hapmaprs386833548
1000 genomesrs386833548
hgdprs386833548
ensemblrs386833548
gopubmedrs386833548
geneviewrs386833548
scholarrs386833548
googlers386833548
pharmgkbrs386833548
gwascentralrs386833548
openSNPrs386833548
23andMers386833548
23andMe allrs386833548
SNP Nexus

SNPshotrs386833548
SNPdbers386833548
MSV3drs386833548
GWAS Ctlgrs386833548
Max Magnitude0
ClinVar
Risk rs386833548(;)
Alt rs386833548(;)
Reference rs386833548(TCT;TCT)
Significance Other
Disease Non-ketotic hyperglycinemia
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000009.11:g.6554715_6554717delAGA
CLNSRC OMIM Allelic Variant
CLNACC RCV000049476.2,


[PMID 1996985] Structural and expression analyses of normal and mutant mRNA encoding glycine decarboxylase: three-base deletion in mRNA causes nonketotic hyperglycinemia.