rs114925667

Orientation

plus

Stabilized

plus

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

Reference

GRCh38.p7 38.3/149

Chromosome

3

Position

132675903

Gene	NPHP3-ACAD11, UBA5

is a	snp
is	mentioned by
dbSNP	rs114925667
dbSNP (classic)	rs114925667
ClinGen	rs114925667
ebi	rs114925667
HLI	rs114925667
Exac	rs114925667
Gnomad	rs114925667
Varsome	rs114925667
LitVar	rs114925667
Map	rs114925667
PheGenI	rs114925667
Biobank	rs114925667
1000 genomes	rs114925667
hgdp	rs114925667
ensembl	rs114925667
geneview	rs114925667
scholar	rs114925667
google	rs114925667
pharmgkb	rs114925667
gwascentral	rs114925667
openSNP	rs114925667
23andMe	rs114925667
SNPshot	rs114925667
SNPdbe	rs114925667
MSV3d	rs114925667
GWAS Ctlg	rs114925667

Max Magnitude

9

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,