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rs121917749

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 4 Benign familial neonatal-infantile seizures
Make rs121917749(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position165374700
GeneSCN2A
is asnp
is mentioned by
dbSNPrs121917749
ebirs121917749
HLIrs121917749
Exacrs121917749
Varsomers121917749
Maprs121917749
PheGenIrs121917749
hapmaprs121917749
1000 genomesrs121917749
hgdprs121917749
ensemblrs121917749
gopubmedrs121917749
geneviewrs121917749
scholarrs121917749
googlers121917749
pharmgkbrs121917749
gwascentralrs121917749
openSNPrs121917749
23andMers121917749
23andMe allrs121917749
SNP Nexus

SNPshotrs121917749
SNPdbers121917749
MSV3drs121917749
GWAS Ctlgrs121917749
Max Magnitude4

rs121917749, also known as c.3988C>T, p.Leu1330Phe and L1330F, is a rare variant in the SCN2A gene on chromosome 2.

The rs121917749(T) mutation is considered a dominant variant leading to benign familial neonatal-infantile seizures (BFNIS), type 3.

OMIM182390
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121917749(T;T)
Alt rs121917749(T;T)
Reference rs121917749(C;C)
Significance Pathogenic
Disease Benign familial neonatal-infantile seizures
Variation info
Gene SCN2A
CLNDBN Benign familial neonatal-infantile seizures
Reversed 0
HGVS NC_000002.11:g.166231210C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013736.23,