rs28934906

minus

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

Make rs28934906(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

154031355

Gene

MECP2

is a	snp
is	mentioned by
dbSNP	rs28934906
dbSNP (classic)	rs28934906
ClinGen	rs28934906
ebi	rs28934906
HLI	rs28934906
Exac	rs28934906
Gnomad	rs28934906
Varsome	rs28934906
LitVar	rs28934906
Map	rs28934906
PheGenI	rs28934906
Biobank	rs28934906
1000 genomes	rs28934906
hgdp	rs28934906
ensembl	rs28934906
geneview	rs28934906
scholar	rs28934906
google	rs28934906
pharmgkb	rs28934906
gwascentral	rs28934906
openSNP	rs28934906
23andMe	rs28934906
SNPshot	rs28934906
SNPdbe	rs28934906
MSV3d	rs28934906
GWAS Ctlg	rs28934906

Max Magnitude

8.2

rs28934906, also known as c.473C>T, C473T, p.Thr158Met and T158M, represents a variant in the MECP2 gene on the X chromosome.

The rs28934906(T) allele is reported in RettBASE as the most frequent mutation associated with Rett syndrome. Note that, in contrast to most variants reported in SNPedia, pathogenic MECP2 variants generally arise de novo and are not inherited.

OMIM	300005
Desc	RETT SYNDROME
Variant	0007
Related	also

ClinVar
Risk	rs28934906(T;T)
Alt	rs28934906(T;T)
Reference	Rs28934906(C;C)
Significance	Other
Disease	Rett syndrome Encephalopathy not provided Autism Angelman syndrome Severe neonatal-onset encephalopathy with microcephaly Mental retardation
Variation	info
Gene	MECP2
CLNDBN	Rett syndrome Encephalopathy, neonatal severe, due to mecp2 mutation not provided Autism, susceptibility to, X-linked 3 Angelman syndrome Severe neonatal-onset encephalopathy with microcephaly Mental retardation, X-linked, syndromic 13
Reversed	1
HGVS	NC_000023.10:g.153296806G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012580.24, RCV000012581.23, RCV000133129.5, RCV000169935.1, RCV000170109.1, RCV000170110.1, RCV000315674.1,

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