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rs121917750

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 4 Benign familial neonatal-infantile seizures
Make rs121917750(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position165386881
GeneSCN2A
is asnp
is mentioned by
dbSNPrs121917750
ebirs121917750
HLIrs121917750
Exacrs121917750
Varsomers121917750
Maprs121917750
PheGenIrs121917750
hapmaprs121917750
1000 genomesrs121917750
hgdprs121917750
ensemblrs121917750
gopubmedrs121917750
geneviewrs121917750
scholarrs121917750
googlers121917750
pharmgkbrs121917750
gwascentralrs121917750
openSNPrs121917750
23andMers121917750
23andMe allrs121917750
SNP Nexus

SNPshotrs121917750
SNPdbers121917750
MSV3drs121917750
GWAS Ctlgrs121917750
Max Magnitude4

rs121917749, also known as c.4687C>G, p.Leu1563Val and L1563V, is a rare variant in the SCN2A gene on chromosome 2.

The rs121917750(G) mutation is considered a dominant variant leading to benign familial neonatal-infantile seizures (BFNIS), type 3.

OMIM182390
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121917750(G;G)
Alt rs121917750(G;G)
Reference rs121917750(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.166243391C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000013737.24,