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rs121917967

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;T) 8 Dravet syndrome and severe epileptic seizure syndrome(s) possible
(T;T) 0 common/normal


Make rs121917967(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166046910
GeneSCN1A
is asnp
is mentioned by
dbSNPrs121917967
ebirs121917967
HLIrs121917967
Exacrs121917967
Varsomers121917967
Maprs121917967
PheGenIrs121917967
hapmaprs121917967
1000 genomesrs121917967
hgdprs121917967
ensemblrs121917967
gopubmedrs121917967
geneviewrs121917967
scholarrs121917967
googlers121917967
pharmgkbrs121917967
gwascentralrs121917967
openSNPrs121917967
23andMers121917967
23andMe allrs121917967
SNP Nexus

SNPshotrs121917967
SNPdbers121917967
MSV3drs121917967
GWAS Ctlgrs121917967
Max Magnitude8
rs121917967, also known as c.1237T>A, p.Tyr413Asn and Y413N, represents a very rare variant in the SCN1A gene on chromosome 2.

This mutation is reported in at least two publications as leading to Severe myoclonic epilepsy in infancy (SMEI), also known as Dravet syndrome and epileptic encephalopathy, all of which are inherited dominantly although they can and do arise from de novo mutations as well.[PMID 16713920][PMID 17347258]

Note that this mutation is the basis of the Williams v Quest/Athena case, in which a mother accuses Athena of misclassifying this mutation (in her infant son, who eventually died of complications following a seizure) as a variant of unknown significance (VUS) rather than as disease-causing.[1]

ClinVar
Risk rs121917967(A;A)
Alt rs121917967(A;A)
Reference rs121917967(T;T)
Significance Untested
Disease Severe myoclonic epilepsy in infancy
Variation info
Gene SCN1A
CLNDBN Severe myoclonic epilepsy in infancy
Reversed 1
HGVS NC_000002.11:g.166903420A>T
CLNSRC UniProtKB (variants)
CLNACC RCV000059381.1,