rs61751362

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	8.2	Rett Syndrome (predicted)
(T;T)	2.5	increased risk of Rett syndrome and Autism

Reference

GRCh38 38.1/141

Chromosome

X

Position

154030948

Gene

MECP2

is a	snp
is	mentioned by
dbSNP	rs61751362
dbSNP (classic)	rs61751362
ClinGen	rs61751362
ebi	rs61751362
HLI	rs61751362
Exac	rs61751362
Gnomad	rs61751362
Varsome	rs61751362
LitVar	rs61751362
Map	rs61751362
PheGenI	rs61751362
Biobank	rs61751362
1000 genomes	rs61751362
hgdp	rs61751362
ensembl	rs61751362
geneview	rs61751362
scholar	rs61751362
google	rs61751362
pharmgkb	rs61751362
gwascentral	rs61751362
openSNP	rs61751362
23andMe	rs61751362
SNPshot	rs61751362
SNPdbe	rs61751362
MSV3d	rs61751362
GWAS Ctlg	rs61751362

Max Magnitude

8.2

MECP2 Rett syndrome mutation; c.916C>T, C916T, p.Arg306Ter, R306X

OMIM	300005
Desc
Variant	0011
Related	also

ClinVar
Risk	rs61751362(G;G) Rs61751362(T;T)
Alt	rs61751362(G;G) Rs61751362(T;T)
Reference	Rs61751362(C;C)
Significance	Other
Disease	Rett syndrome Autism not provided Mental retardation Angelman syndrome
Variation	info
Gene	MECP2
CLNDBN	Rett syndrome Autism, susceptibility to, X-linked 3 not provided Mental retardation, X-linked, syndromic 13 Angelman syndrome
Reversed	1
HGVS	NC_000023.10:g.153296399G>A
CLNSRC	HGMD OMIM Allelic Variant
CLNACC	RCV000012590.23, RCV000012591.3, RCV000081215.7, RCV000178233.1, RCV000474366.1,

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