rs151272083

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs151272083(A;A)

Make rs151272083(A;G)

Reference

GRCh38.p2 38.2/147

Chromosome

9

Position

135778822

Gene

KCNT1

is a	snp
is	mentioned by
dbSNP	rs151272083
dbSNP (classic)	rs151272083
ClinGen	rs151272083
ebi	rs151272083
HLI	rs151272083
Exac	rs151272083
Gnomad	rs151272083
Varsome	rs151272083
LitVar	rs151272083
Map	rs151272083
PheGenI	rs151272083
Biobank	rs151272083
1000 genomes	rs151272083
hgdp	rs151272083
ensembl	rs151272083
geneview	rs151272083
scholar	rs151272083
google	rs151272083
pharmgkb	rs151272083
gwascentral	rs151272083
openSNP	rs151272083
23andMe	rs151272083
SNPshot	rs151272083
SNPdbe	rs151272083
MSV3d	rs151272083
GWAS Ctlg	rs151272083

Max Magnitude

0

c.2729G>A (p.Arg910Gln or R910Q)

Consensus in ClinVar is that this is a benign variant

ClinVar
Risk	rs151272083(A;A)
Alt	rs151272083(A;A)
Reference	Rs151272083(G;G)
Significance	Unknown
Disease	Early infantile epileptic encephalopathy 14 Epilepsy not specified
Variation	info
Gene	KCNT1
CLNDBN	Early infantile epileptic encephalopathy 14 Epilepsy, nocturnal frontal lobe, 5 not specified
Reversed	0
HGVS	NC_000009.11:g.138670668G>A
CLNSRC
CLNACC	RCV000209930.1, RCV000230529.2, RCV000355238.2,