rs61748404

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;G)	8.2	Rett Syndrome (predicted)

Make rs61748404(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

154031373

Gene

MECP2

is a	snp
is	mentioned by
dbSNP	rs61748404
dbSNP (classic)	rs61748404
ClinGen	rs61748404
ebi	rs61748404
HLI	rs61748404
Exac	rs61748404
Gnomad	rs61748404
Varsome	rs61748404
LitVar	rs61748404
Map	rs61748404
PheGenI	rs61748404
Biobank	rs61748404
1000 genomes	rs61748404
hgdp	rs61748404
ensembl	rs61748404
geneview	rs61748404
scholar	rs61748404
google	rs61748404
pharmgkb	rs61748404
gwascentral	rs61748404
openSNP	rs61748404
23andMe	rs61748404
SNPshot	rs61748404
SNPdbe	rs61748404
MSV3d	rs61748404
GWAS Ctlg	rs61748404

Max Magnitude

8.2

MECP2 Rett syndrome mutation, c.455C>G, C455G, p.Pro152Arg, P152R

Note current clinical significance in ClinVar is "uncertain significance".

ClinVar
Risk	rs61748404(G;G)
Alt	rs61748404(G;G)
Reference	Rs61748404(C;C)
Significance	Pathogenic
Disease	Rett syndrome not provided not specified
Variation	info
Gene	MECP2
CLNDBN	Rett syndrome not provided not specified
Reversed	1
HGVS	NC_000023.10:g.153296824G>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000133116.4, RCV000254929.2, RCV000445575.1,