rs794727444

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;G)	6	Early infantile epileptic encephalopathy and also benign infantile spasms
(G;G)	0	common in clinvar

Make rs794727444(A;A)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

165389451

Gene

SCN2A

is a	snp
is	mentioned by
dbSNP	rs794727444
dbSNP (classic)	rs794727444
ClinGen	rs794727444
ebi	rs794727444
HLI	rs794727444
Exac	rs794727444
Gnomad	rs794727444
Varsome	rs794727444
LitVar	rs794727444
Map	rs794727444
PheGenI	rs794727444
Biobank	rs794727444
1000 genomes	rs794727444
hgdp	rs794727444
ensembl	rs794727444
geneview	rs794727444
scholar	rs794727444
google	rs794727444
pharmgkb	rs794727444
gwascentral	rs794727444
openSNP	rs794727444
23andMe	rs794727444
SNPshot	rs794727444
SNPdbe	rs794727444
MSV3d	rs794727444
GWAS Ctlg	rs794727444

Max Magnitude

6

rs794727444, also known as c.5645G>A, p.Arg1882Gln and R1882Q, is a rare variant in the SCN2A gene on chromosome 2.

The rs794727444(A) allele is reported by multiple sources in ClinVar to be associated with both benign familial neonatal-infantile seizures (BFNIS) and early infantile epileptic encephalopathy, type 11.

ClinVar
Risk	rs794727444(A;A) rs794727444(T;T)
Alt	rs794727444(A;A) rs794727444(T;T)
Reference	Rs794727444(G;G)
Significance	Pathogenic
Disease	Benign familial neonatal-infantile seizures Early infantile epileptic encephalopathy 11 not provided Epileptic encephalopathy
Variation	info
Gene	SCN2A
CLNDBN	Benign familial neonatal-infantile seizures Early infantile epileptic encephalopathy 11 not provided Epileptic encephalopathy
Reversed	0
HGVS	NC_000002.11:g.166245961G>A; NC_000002.11:g.166245961G>T
CLNSRC
CLNACC	RCV000176762.1, RCV000176763.1, RCV000189181.2, RCV000417008.1, RCV000189182.3,