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rs121964975

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 8.8 Glycine encephalopathy; Non-ketotic hyperglycinemia
(-;TTC) 3 Carrier of a glycine encephalopathy mutation
(TCT;TCT) 0 common in clinvar
Make rs121964975(TTC;TTC)
ReferenceGRCh37 37.1/132
Chromosome9
Position6554716
GeneGLDC
is asnp
is mentioned by
dbSNPrs121964975
dbSNP (classic)rs121964975
ClinGenrs121964975
ebirs121964975
HLIrs121964975
Exacrs121964975
Gnomadrs121964975
Varsomers121964975
LitVarrs121964975
Maprs121964975
PheGenIrs121964975
Biobankrs121964975
1000 genomesrs121964975
hgdprs121964975
ensemblrs121964975
geneviewrs121964975
scholarrs121964975
googlers121964975
pharmgkbrs121964975
gwascentralrs121964975
openSNPrs121964975
23andMers121964975
SNPshotrs121964975
SNPdbers121964975
MSV3drs121964975
GWAS Ctlgrs121964975
Merged fromRs386833548
Max Magnitude8.8

c.2267_2269delTCT (p.Phe756del)

OMIM238300
Desc
Variant0002
Relatedalso
ClinVar
Risk Rs121964975(TCT;TCT) Rs121964975(-;-)
Alt Rs121964975(TCT;TCT) Rs121964975(-;-)
Reference rs121964975(TTC;TTC)
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,