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rs794727152

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 7 Infantile spasms; early-onset epileptic encephalopathies
(G;G) 0 common in clinvar


Make rs794727152(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position165342465
GeneSCN2A
is asnp
is mentioned by
dbSNPrs794727152
ebirs794727152
HLIrs794727152
Exacrs794727152
Varsomers794727152
Maprs794727152
PheGenIrs794727152
hapmaprs794727152
1000 genomesrs794727152
hgdprs794727152
ensemblrs794727152
gopubmedrs794727152
geneviewrs794727152
scholarrs794727152
googlers794727152
pharmgkbrs794727152
gwascentralrs794727152
openSNPrs794727152
23andMers794727152
23andMe allrs794727152
SNP Nexus

SNPshotrs794727152
SNPdbers794727152
MSV3drs794727152
GWAS Ctlgrs794727152
Max Magnitude7

rs794727152, also known as c.2558G>A, p.Arg853Gln and R853Q, is a rare variant in the SCN2A gene on chromosome 2.

The rs794727152(A) allele is reported in ClinVar by two sources to be pathogenic for infantile spasms, more specifically, early-onset epileptic encephalopathies.[PMID 23935176]


ClinVar
Risk rs794727152(A;A)
Alt rs794727152(A;A)
Reference rs794727152(G;G)
Significance Pathogenic
Disease not provided Early infantile epileptic encephalopathy 11
Variation info
Gene SCN2A
CLNDBN not provided Early infantile epileptic encephalopathy 11
Reversed 0
HGVS NC_000002.11:g.166198975G>A
CLNSRC
CLNACC RCV000174944.2, RCV000197677.1,