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rs794727444

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 6 Early infantile epileptic encephalopathy and also benign infantile spasms
(G;G) 0 common in clinvar


Make rs794727444(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position165389451
GeneSCN2A
is asnp
is mentioned by
dbSNPrs794727444
ebirs794727444
HLIrs794727444
Exacrs794727444
Varsomers794727444
Maprs794727444
PheGenIrs794727444
hapmaprs794727444
1000 genomesrs794727444
hgdprs794727444
ensemblrs794727444
gopubmedrs794727444
geneviewrs794727444
scholarrs794727444
googlers794727444
pharmgkbrs794727444
gwascentralrs794727444
openSNPrs794727444
23andMers794727444
23andMe allrs794727444
SNP Nexus

SNPshotrs794727444
SNPdbers794727444
MSV3drs794727444
GWAS Ctlgrs794727444
Max Magnitude6

rs794727444, also known as c.5645G>A, p.Arg1882Gln and R1882Q, is a rare variant in the SCN2A gene on chromosome 2.

The rs794727444(A) allele is reported by multiple sources in ClinVar to be associated with both benign familial neonatal-infantile seizures (BFNIS) and early infantile epileptic encephalopathy, type 11.


ClinVar
Risk rs794727444(A,T;A,T)
Alt rs794727444(A,T;A,T)
Reference rs794727444(G;G)
Significance Pathogenic
Disease Benign familial neonatal-infantile seizures Early infantile epileptic encephalopathy 11 not provided not specified
Variation info
Gene SCN2A
CLNDBN Benign familial neonatal-infantile seizures Early infantile epileptic encephalopathy 11 not provided not specified
Reversed 0
HGVS NC_000002.11:g.166245961G>A; NC_000002.11:g.166245961G>T
CLNSRC
CLNACC RCV000176762.1, RCV000176763.1, RCV000189181.2, RCV000189182.2,