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rs386833565

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833565(A;A)
Make rs386833565(A;C)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position6540109
GeneGLDC
is asnp
is mentioned by
dbSNPrs386833565
ebirs386833565
HLIrs386833565
Exacrs386833565
Varsomers386833565
Maprs386833565
PheGenIrs386833565
hapmaprs386833565
1000 genomesrs386833565
hgdprs386833565
ensemblrs386833565
gopubmedrs386833565
geneviewrs386833565
scholarrs386833565
googlers386833565
pharmgkbrs386833565
gwascentralrs386833565
openSNPrs386833565
23andMers386833565
23andMe allrs386833565
SNP Nexus

SNPshotrs386833565
SNPdbers386833565
MSV3drs386833565
GWAS Ctlgrs386833565
Max Magnitude0
ClinVar
Risk rs386833565(A;A)
Alt rs386833565(A;A)
Reference rs386833565(C;C)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000009.11:g.6540109G>T
CLNSRC ClinVar
CLNACC RCV000049493.1,


[PMID 15851735] Mild glycine encephalopathy (NKH) in a large kindred due to a silent exonic GLDC splice mutation.