rs794727152

plus

Geno	Mag	Summary
(A;G)	7	Infantile spasms; early-onset epileptic encephalopathies
(G;G)	0	common in clinvar

Make rs794727152(A;A)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

165342465

Gene

SCN2A

is a	snp
is	mentioned by
dbSNP	rs794727152
dbSNP (classic)	rs794727152
ClinGen	rs794727152
ebi	rs794727152
HLI	rs794727152
Exac	rs794727152
Gnomad	rs794727152
Varsome	rs794727152
LitVar	rs794727152
Map	rs794727152
PheGenI	rs794727152
Biobank	rs794727152
1000 genomes	rs794727152
hgdp	rs794727152
ensembl	rs794727152
geneview	rs794727152
scholar	rs794727152
google	rs794727152
pharmgkb	rs794727152
gwascentral	rs794727152
openSNP	rs794727152
23andMe	rs794727152
SNPshot	rs794727152
SNPdbe	rs794727152
MSV3d	rs794727152
GWAS Ctlg	rs794727152

Max Magnitude

7

rs794727152, also known as c.2558G>A, p.Arg853Gln and R853Q, is a rare variant in the SCN2A gene on chromosome 2.

The rs794727152(A) allele is reported in ClinVar by two sources to be pathogenic for infantile spasms, more specifically, early-onset epileptic encephalopathies.[PMID 23935176]

ClinVar
Risk	rs794727152(A;A)
Alt	rs794727152(A;A)
Reference	Rs794727152(G;G)
Significance	Pathogenic
Disease	not provided Early infantile epileptic encephalopathy 11
Variation	info
Gene	SCN2A
CLNDBN	not provided Early infantile epileptic encephalopathy 11
Reversed	0
HGVS	NC_000002.11:g.166198975G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000174944.3, RCV000197677.1,