rs61749721

Orientation

minus

Stabilized

minus

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

Make rs61749721(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

154031065

Gene

MECP2

is a	snp
is	mentioned by
dbSNP	rs61749721
dbSNP (classic)	rs61749721
ClinGen	rs61749721
ebi	rs61749721
HLI	rs61749721
Exac	rs61749721
Gnomad	rs61749721
Varsome	rs61749721
LitVar	rs61749721
Map	rs61749721
PheGenI	rs61749721
Biobank	rs61749721
1000 genomes	rs61749721
hgdp	rs61749721
ensembl	rs61749721
geneview	rs61749721
scholar	rs61749721
google	rs61749721
pharmgkb	rs61749721
gwascentral	rs61749721
openSNP	rs61749721
23andMe	rs61749721
SNPshot	rs61749721
SNPdbe	rs61749721
MSV3d	rs61749721
GWAS Ctlg	rs61749721

Max Magnitude

8.2

MECP2 Rett syndrome mutation; c.763C>T, C763T, p.Arg255Ter, R255X

OMIM	300005
Desc
Variant	0021
Related	also

ClinVar
Risk	rs61749721(T;T)
Alt	rs61749721(T;T)
Reference	Rs61749721(C;C)
Significance	Other
Disease	Rett syndrome not provided Mental retardation
Variation	info
Gene	MECP2
CLNDBN	Rett syndrome not provided Mental retardation, X-linked, syndromic 13
Reversed	1
HGVS	NC_000023.10:g.153296516G>A
CLNSRC	HGMD OMIM Allelic Variant
CLNACC	RCV000012602.29, RCV000081209.8, RCV000169938.3,

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