rs121917750

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;G)	4	Benign familial neonatal-infantile seizures

Make rs121917750(G;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

165386881

Gene

SCN2A

is a	snp
is	mentioned by
dbSNP	rs121917750
dbSNP (classic)	rs121917750
ClinGen	rs121917750
ebi	rs121917750
HLI	rs121917750
Exac	rs121917750
Gnomad	rs121917750
Varsome	rs121917750
LitVar	rs121917750
Map	rs121917750
PheGenI	rs121917750
Biobank	rs121917750
1000 genomes	rs121917750
hgdp	rs121917750
ensembl	rs121917750
geneview	rs121917750
scholar	rs121917750
google	rs121917750
pharmgkb	rs121917750
gwascentral	rs121917750
openSNP	rs121917750
23andMe	rs121917750
SNPshot	rs121917750
SNPdbe	rs121917750
MSV3d	rs121917750
GWAS Ctlg	rs121917750

Max Magnitude

4

rs121917749, also known as c.4687C>G, p.Leu1563Val and L1563V, is a rare variant in the SCN2A gene on chromosome 2.

The rs121917750(G) mutation is considered a dominant variant leading to benign familial neonatal-infantile seizures (BFNIS), type 3.

OMIM	182390
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121917750(G;G)
Alt	rs121917750(G;G)
Reference	Rs121917750(C;C)
Significance	Pathogenic
Disease	Benign familial neonatal-infantile seizures not provided
Variation	info
Gene	SCN2A
CLNDBN	Benign familial neonatal-infantile seizures not provided
Reversed	0
HGVS	NC_000002.11:g.166243391C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013737.24, RCV000255820.2,