rs796053137

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;G)	7	Complex pediatric neurologic issues including seizures; see discussion

Make rs796053137(G;G)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

165377606

Gene

SCN2A

is a	snp
is	mentioned by
dbSNP	rs796053137
dbSNP (classic)	rs796053137
ClinGen	rs796053137
ebi	rs796053137
HLI	rs796053137
Exac	rs796053137
Gnomad	rs796053137
Varsome	rs796053137
LitVar	rs796053137
Map	rs796053137
PheGenI	rs796053137
Biobank	rs796053137
1000 genomes	rs796053137
hgdp	rs796053137
ensembl	rs796053137
geneview	rs796053137
scholar	rs796053137
google	rs796053137
pharmgkb	rs796053137
gwascentral	rs796053137
openSNP	rs796053137
23andMe	rs796053137
SNPshot	rs796053137
SNPdbe	rs796053137
MSV3d	rs796053137
GWAS Ctlg	rs796053137

Max Magnitude

7

rs796053137, also known as c.4264A>G, p.Lys1422Glu and K1422E, represents a very rare mutation in the SCN2A gene on chromosome 2.

Reported in ClinVar as "likely pathogenic" on a dominant basis for a group of symptoms including neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain.[PMID 23827426 ]

A nonprofit focused on SCN2A-based channelopathies, the FamilieSCN2A Foundation, is a recommended resource for interested parents and others.

ClinVar
Risk	rs796053137(G;G)
Alt	rs796053137(G;G)
Reference	Rs796053137(A;A)
Significance	Probable-Pathogenic
Disease	not provided
Variation	info
Gene	SCN2A
CLNDBN	not provided
Reversed	0
HGVS	NC_000002.11:g.166234116A>G
CLNSRC	UniProtKB (protein)
CLNACC	RCV000189150.1,