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rs796053137

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 7 Complex pediatric neurologic issues including seizures; see discussion
Make rs796053137(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position165377606
GeneSCN2A
is asnp
is mentioned by
dbSNPrs796053137
ebirs796053137
HLIrs796053137
Exacrs796053137
Varsomers796053137
Maprs796053137
PheGenIrs796053137
hapmaprs796053137
1000 genomesrs796053137
hgdprs796053137
ensemblrs796053137
gopubmedrs796053137
geneviewrs796053137
scholarrs796053137
googlers796053137
pharmgkbrs796053137
gwascentralrs796053137
openSNPrs796053137
23andMers796053137
23andMe allrs796053137
SNP Nexus

SNPshotrs796053137
SNPdbers796053137
MSV3drs796053137
GWAS Ctlgrs796053137
Max Magnitude7

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 23827426OA-icon.png]

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
CLNACC RCV000189150.1,