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rs387906686

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 Early infantile epileptic encephalopathy and also benign infantile spasms
Make rs387906686(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position165310413
GeneSCN2A
is asnp
is mentioned by
dbSNPrs387906686
ebirs387906686
HLIrs387906686
Exacrs387906686
Varsomers387906686
Maprs387906686
PheGenIrs387906686
hapmaprs387906686
1000 genomesrs387906686
hgdprs387906686
ensemblrs387906686
gopubmedrs387906686
geneviewrs387906686
scholarrs387906686
googlers387906686
pharmgkbrs387906686
gwascentralrs387906686
openSNPrs387906686
23andMers387906686
23andMe allrs387906686
SNP Nexus

SNPshotrs387906686
SNPdbers387906686
MSV3drs387906686
GWAS Ctlgrs387906686
Max Magnitude6

rs387906686, also known as c.788C>T, p.Ala263Val and A263V, represents a rare variant in the SCN2A gene on chromosome 2.

The rs387906686(T) 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 rs387906686(T;T)
Alt rs387906686(T;T)
Reference rs387906686(C;C)
Significance Pathogenic
Disease Early infantile epileptic encephalopathy 11 Benign familial neonatal-infantile seizures not provided
Variation info
Gene SCN2A
CLNDBN Early infantile epileptic encephalopathy 11 Benign familial neonatal-infantile seizures not provided
Reversed 0
HGVS NC_000002.11:g.166166923C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000022769.25, RCV000118251.1, RCV000189193.1,