rs121918321

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	8	Early infantile epileptic encephalopathy, type 4

Make rs121918321(T;T)

Reference

GRCh38 38.1/141

Chromosome

9

Position

127675855

Gene

STXBP1

is a	snp
is	mentioned by
dbSNP	rs121918321
dbSNP (classic)	rs121918321
ClinGen	rs121918321
ebi	rs121918321
HLI	rs121918321
Exac	rs121918321
Gnomad	rs121918321
Varsome	rs121918321
LitVar	rs121918321
Map	rs121918321
PheGenI	rs121918321
Biobank	rs121918321
1000 genomes	rs121918321
hgdp	rs121918321
ensembl	rs121918321
geneview	rs121918321
scholar	rs121918321
google	rs121918321
pharmgkb	rs121918321
gwascentral	rs121918321
openSNP	rs121918321
23andMe	rs121918321
SNPshot	rs121918321
SNPdbe	rs121918321
MSV3d	rs121918321
GWAS Ctlg	rs121918321

Max Magnitude

8

aka c.1162C>T (p.Arg388Ter or R388X)

OMIM	602926
Desc
Variant	0005
Related	also

ClinVar
Risk	rs121918321(T;T)
Alt	rs121918321(T;T)
Reference	Rs121918321(C;C)
Significance	Pathogenic
Disease	Early infantile epileptic encephalopathy 4 not provided
Variation	info
Gene	STXBP1
CLNDBN	Early infantile epileptic encephalopathy 4 not provided
Reversed	0
HGVS	NC_000009.11:g.130438134C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000007122.2, RCV000189612.1,