rs28934907

Orientation

minus

Stabilized

minus

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

Make rs28934907(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

154032268

Gene

MECP2

is a	snp
is	mentioned by
dbSNP	rs28934907
dbSNP (classic)	rs28934907
ClinGen	rs28934907
ebi	rs28934907
HLI	rs28934907
Exac	rs28934907
Gnomad	rs28934907
Varsome	rs28934907
LitVar	rs28934907
Map	rs28934907
PheGenI	rs28934907
Biobank	rs28934907
1000 genomes	rs28934907
hgdp	rs28934907
ensembl	rs28934907
geneview	rs28934907
scholar	rs28934907
google	rs28934907
pharmgkb	rs28934907
gwascentral	rs28934907
openSNP	rs28934907
23andMe	rs28934907
SNPshot	rs28934907
SNPdbe	rs28934907
MSV3d	rs28934907
GWAS Ctlg	rs28934907

Max Magnitude

8.2

MECP2 Rett syndrome mutation, c.316C>T ,C316T, p.Arg106Trp, R106T

OMIM	300005
Desc	RETT SYNDROME
Variant	0008
Related	also

ClinVar
Risk	Rs28934907(G;G) rs28934907(T;T)
Alt	Rs28934907(G;G) rs28934907(T;T)
Reference	Rs28934907(C;C)
Significance	Other
Disease	Rett syndrome not provided
Variation	info
Gene	MECP2
CLNDBN	Rett syndrome not provided
Reversed	1
HGVS	NC_000023.10:g.153297719G>A; NC_000023.10:g.153297719G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012585.24, RCV000255874.1, RCV000133065.2,

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