rs267606715

Orientation

plus

Stabilized

plus

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

Make rs267606715(C;C)

Make rs267606715(C;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

18584332

Gene

CDKL5

is a	snp
is	mentioned by
dbSNP	rs267606715
dbSNP (classic)	rs267606715
ClinGen	rs267606715
ebi	rs267606715
HLI	rs267606715
Exac	rs267606715
Gnomad	rs267606715
Varsome	rs267606715
LitVar	rs267606715
Map	rs267606715
PheGenI	rs267606715
Biobank	rs267606715
1000 genomes	rs267606715
hgdp	rs267606715
ensembl	rs267606715
geneview	rs267606715
scholar	rs267606715
google	rs267606715
pharmgkb	rs267606715
gwascentral	rs267606715
openSNP	rs267606715
23andMe	rs267606715
SNPshot	rs267606715
SNPdbe	rs267606715
MSV3d	rs267606715
GWAS Ctlg	rs267606715

Max Magnitude

0

ClinVar
Risk	rs267606715(A;A) rs267606715(C;C)
Alt	rs267606715(A;A) rs267606715(C;C)
Reference	Rs267606715(G;G)
Significance	Other
Disease	not provided Early infantile epileptic encephalopathy 2
Variation	info
Gene	CDKL5
CLNDBN	not provided Early infantile epileptic encephalopathy 2
Reversed	0
HGVS	NC_000023.10:g.18602452G>A; NC_000023.10:g.18602452G>C
CLNSRC	HGMD RettBASE (CDKL5) UniProtKB (protein) OMIM Allelic Variant
CLNACC	RCV000080074.9, RCV000169920.2, RCV000012262.11,