rs121917967

minus

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

Make rs121917967(A;A)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

166046910

Gene

SCN1A

is a	snp
is	mentioned by
dbSNP	rs121917967
dbSNP (classic)	rs121917967
ClinGen	rs121917967
ebi	rs121917967
HLI	rs121917967
Exac	rs121917967
Gnomad	rs121917967
Varsome	rs121917967
LitVar	rs121917967
Map	rs121917967
PheGenI	rs121917967
Biobank	rs121917967
1000 genomes	rs121917967
hgdp	rs121917967
ensembl	rs121917967
geneview	rs121917967
scholar	rs121917967
google	rs121917967
pharmgkb	rs121917967
gwascentral	rs121917967
openSNP	rs121917967
23andMe	rs121917967
SNPshot	rs121917967
SNPdbe	rs121917967
MSV3d	rs121917967
GWAS Ctlg	rs121917967

Max Magnitude

8

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 (protein) UniProtKB (variants)
CLNACC	RCV000059381.1,