rs61748421

Orientation

minus

Stabilized

minus

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

Make rs61748421(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

154031326

Gene

MECP2

is a	snp
is	mentioned by
dbSNP	rs61748421
dbSNP (classic)	rs61748421
ClinGen	rs61748421
ebi	rs61748421
HLI	rs61748421
Exac	rs61748421
Gnomad	rs61748421
Varsome	rs61748421
LitVar	rs61748421
Map	rs61748421
PheGenI	rs61748421
Biobank	rs61748421
1000 genomes	rs61748421
hgdp	rs61748421
ensembl	rs61748421
geneview	rs61748421
scholar	rs61748421
google	rs61748421
pharmgkb	rs61748421
gwascentral	rs61748421
openSNP	rs61748421
23andMe	rs61748421
SNPshot	rs61748421
SNPdbe	rs61748421
MSV3d	rs61748421
GWAS Ctlg	rs61748421

Max Magnitude

8.2

MECP2 Rett syndrome mutation; c.502C>T, C502T, p.Arg168Ter, R168X

OMIM	300005
Desc
Variant	0020
Related	also

ClinVar
Risk	rs61748421(A;A) rs61748421(T;T)
Alt	rs61748421(A;A) rs61748421(T;T)
Reference	Rs61748421(C;C)
Significance	Pathogenic
Disease	Rett syndrome not provided Intellectual disability Mental retardation
Variation	info
Gene	MECP2
CLNDBN	Rett syndrome not provided Intellectual disability Mental retardation, X-linked, syndromic 13
Reversed	1
HGVS	NC_000023.10:g.153296777G>A; NC_000023.10:g.153296777G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012601.24, RCV000133143.5, RCV000224869.1, RCV000311786.1, RCV000170207.1,

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