rs387906686

Orientation

plus

Stabilized

plus

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

Make rs387906686(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

165310413

Gene

SCN2A

is a	snp
is	mentioned by
dbSNP	rs387906686
dbSNP (classic)	rs387906686
ClinGen	rs387906686
ebi	rs387906686
HLI	rs387906686
Exac	rs387906686
Gnomad	rs387906686
Varsome	rs387906686
LitVar	rs387906686
Map	rs387906686
PheGenI	rs387906686
Biobank	rs387906686
1000 genomes	rs387906686
hgdp	rs387906686
ensembl	rs387906686
geneview	rs387906686
scholar	rs387906686
google	rs387906686
pharmgkb	rs387906686
gwascentral	rs387906686
openSNP	rs387906686
23andMe	rs387906686
SNPshot	rs387906686
SNPdbe	rs387906686
MSV3d	rs387906686
GWAS Ctlg	rs387906686

Max Magnitude

6

rs387906686, also known as c.788C>T, p.Ala263Val and A263V, represents a rare variant in the SCN2A gene on chromosome 2.

The rs387906686(T) 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	rs387906686(T;T)
Alt	rs387906686(T;T)
Reference	Rs387906686(C;C)
Significance	Pathogenic
Disease	Early infantile epileptic encephalopathy 11 Benign familial neonatal-infantile seizures not provided Epileptic encephalopathy
Variation	info
Gene	SCN2A
CLNDBN	Early infantile epileptic encephalopathy 11 Benign familial neonatal-infantile seizures not provided Epileptic encephalopathy
Reversed	0
HGVS	NC_000002.11:g.166166923C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000022769.25, RCV000118251.1, RCV000189193.2, RCV000416960.1,