rs62641235

Orientation

plus

Stabilized

plus

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

Make rs62641235(C;C)

Make rs62641235(C;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

18575423

Gene

CDKL5

is a	snp
is	mentioned by
dbSNP	rs62641235
dbSNP (classic)	rs62641235
ClinGen	rs62641235
ebi	rs62641235
HLI	rs62641235
Exac	rs62641235
Gnomad	rs62641235
Varsome	rs62641235
LitVar	rs62641235
Map	rs62641235
PheGenI	rs62641235
Biobank	rs62641235
1000 genomes	rs62641235
hgdp	rs62641235
ensembl	rs62641235
geneview	rs62641235
scholar	rs62641235
google	rs62641235
pharmgkb	rs62641235
gwascentral	rs62641235
openSNP	rs62641235
23andMe	rs62641235
SNPshot	rs62641235
SNPdbe	rs62641235
MSV3d	rs62641235
GWAS Ctlg	rs62641235

Max Magnitude

0

OMIM	300203
Desc
Variant	0010
Related	also

ClinVar
Risk	rs62641235(A;A) rs62641235(C;C)
Alt	rs62641235(A;A) rs62641235(C;C)
Reference	Rs62641235(T;T)
Significance	Other
Disease	Atypical Rett syndrome Early infantile epileptic encephalopathy 2 not provided Rett syndrome
Variation	info
Gene	CDKL5
CLNDBN	Atypical Rett syndrome Early infantile epileptic encephalopathy 2 not provided Rett syndrome
Reversed	0
HGVS	NC_000023.10:g.18593543T>A; NC_000023.10:g.18593543T>C
CLNSRC	RettBASE (CDKL5) UniProtKB (protein) HGMD OMIM Allelic Variant
CLNACC	RCV000133344.2, RCV000012258.11, RCV000080068.8, RCV000169913.2,