rs121917749

Orientation

plus

Stabilized

plus

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

Make rs121917749(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

165374700

Gene

SCN2A

is a	snp
is	mentioned by
dbSNP	rs121917749
dbSNP (classic)	rs121917749
ClinGen	rs121917749
ebi	rs121917749
HLI	rs121917749
Exac	rs121917749
Gnomad	rs121917749
Varsome	rs121917749
LitVar	rs121917749
Map	rs121917749
PheGenI	rs121917749
Biobank	rs121917749
1000 genomes	rs121917749
hgdp	rs121917749
ensembl	rs121917749
geneview	rs121917749
scholar	rs121917749
google	rs121917749
pharmgkb	rs121917749
gwascentral	rs121917749
openSNP	rs121917749
23andMe	rs121917749
SNPshot	rs121917749
SNPdbe	rs121917749
MSV3d	rs121917749
GWAS Ctlg	rs121917749

Max Magnitude

4

rs121917749, also known as c.3988C>T, p.Leu1330Phe and L1330F, is a rare variant in the SCN2A gene on chromosome 2.

The rs121917749(T) mutation is considered a dominant variant leading to benign familial neonatal-infantile seizures (BFNIS), type 3.

OMIM	182390
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121917749(T;T)
Alt	rs121917749(T;T)
Reference	Rs121917749(C;C)
Significance	Pathogenic
Disease	Benign familial neonatal-infantile seizures
Variation	info
Gene	SCN2A
CLNDBN	Benign familial neonatal-infantile seizures
Reversed	0
HGVS	NC_000002.11:g.166231210C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013736.23,