rs28935468

Orientation

minus

Stabilized

minus

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

Make rs28935468(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

154030912

Gene

MECP2

is a	snp
is	mentioned by
dbSNP	rs28935468
dbSNP (classic)	rs28935468
ClinGen	rs28935468
ebi	rs28935468
HLI	rs28935468
Exac	rs28935468
Gnomad	rs28935468
Varsome	rs28935468
LitVar	rs28935468
Map	rs28935468
PheGenI	rs28935468
Biobank	rs28935468
1000 genomes	rs28935468
hgdp	rs28935468
ensembl	rs28935468
geneview	rs28935468
scholar	rs28935468
google	rs28935468
pharmgkb	rs28935468
gwascentral	rs28935468
openSNP	rs28935468
23andMe	rs28935468
SNPshot	rs28935468
SNPdbe	rs28935468
MSV3d	rs28935468
GWAS Ctlg	rs28935468

Max Magnitude

8.2

MECP2 Rett syndrome mutation; c.916C>T (p.Arg306Cys)

OMIM	300005
Desc	RETT SYNDROME
Variant	0016
Related	also

ClinVar
Risk	rs28935468(T;T)
Alt	rs28935468(T;T)
Reference	Rs28935468(C;C)
Significance	Pathogenic
Disease	Rett syndrome not provided Mental retardation Angelman syndrome Intellectual disability
Variation	info
Gene	MECP2
CLNDBN	Rett syndrome not provided Mental retardation, X-linked, syndromic 13 Angelman syndrome Intellectual disability
Reversed	1
HGVS	NC_000023.10:g.153296363G>A
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012597.27, RCV000081218.8, RCV000178232.1, RCV000202468.1, RCV000224156.1, RCV000466020.1,

[PMID 17387578] Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms.