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rs114925667

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 9 early infantile epileptic encephalopathy-44
(A;G) 3 Carrier of an early infantile epileptic encephalopathy mutation
(G;G) 0 common/normal
ReferenceGRCh38.p7 38.3/149
Chromosome3
Position132675903
GeneNPHP3-ACAD11, UBA5
is asnp
is mentioned by
dbSNPrs114925667
dbSNP (old)rs114925667
ClinGenrs114925667
ebirs114925667
HLIrs114925667
Exacrs114925667
Gnomadrs114925667
Varsomers114925667
Maprs114925667
PheGenIrs114925667
Biobankrs114925667
1000 genomesrs114925667
hgdprs114925667
ensemblrs114925667
gopubmedrs114925667
geneviewrs114925667
scholarrs114925667
googlers114925667
pharmgkbrs114925667
gwascentralrs114925667
openSNPrs114925667
23andMers114925667
23andMe allrs114925667
SNP Nexus

SNPshotrs114925667
SNPdbers114925667
MSV3drs114925667
GWAS Ctlgrs114925667
Max Magnitude9
UBA5 gene, c.1111G>A (p.Ala371Thr)

pathogenic for early infantile epileptic encephalopathy-44

ClinVar
Risk Rs114925667(A;A) rs114925667(T;T)
Alt Rs114925667(A;A) rs114925667(T;T)
Reference Rs114925667(G;G)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene UBA5 NPHP3-ACAD11
CLNDBN Epileptic encephalopathy, early infantile, 44
Reversed 0
HGVS NC_000003.11:g.132394747G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000256081.1,