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rs386833532

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TATGACCAGGT;TATGACCAGGT) 0 common in clinvar
Make rs386833532(-;-)
Make rs386833532(-;TATGACCAGGT)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position6587159
GeneGLDC
is asnp
is mentioned by
dbSNPrs386833532
ebirs386833532
HLIrs386833532
Exacrs386833532
Varsomers386833532
Maprs386833532
PheGenIrs386833532
hapmaprs386833532
1000 genomesrs386833532
hgdprs386833532
ensemblrs386833532
gopubmedrs386833532
geneviewrs386833532
scholarrs386833532
googlers386833532
pharmgkbrs386833532
gwascentralrs386833532
openSNPrs386833532
23andMers386833532
23andMe allrs386833532
SNP Nexus

SNPshotrs386833532
SNPdbers386833532
MSV3drs386833532
GWAS Ctlgrs386833532
Max Magnitude0
ClinVar
Risk rs386833532(;)
Alt rs386833532(;)
Reference rs386833532(TATGACCAGGT;TATGACCAGGT)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000009.11:g.6587159_6587169delACCTGGTCATA
CLNSRC ClinVar
CLNACC RCV000049460.1,


[PMID 15192636] Mild variant of nonketotic hyperglycinemia with typical neonatal presentations: mutational and in vitro expression analyses in two patients.