rs61749715

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs61749715(C;G)

Make rs61749715(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

154031154

Gene

MECP2

is a	snp
is	mentioned by
dbSNP	rs61749715
dbSNP (classic)	rs61749715
ClinGen	rs61749715
ebi	rs61749715
HLI	rs61749715
Exac	rs61749715
Gnomad	rs61749715
Varsome	rs61749715
LitVar	rs61749715
Map	rs61749715
PheGenI	rs61749715
Biobank	rs61749715
1000 genomes	rs61749715
hgdp	rs61749715
ensembl	rs61749715
geneview	rs61749715
scholar	rs61749715
google	rs61749715
pharmgkb	rs61749715
gwascentral	rs61749715
openSNP	rs61749715
23andMe	rs61749715
SNPshot	rs61749715
SNPdbe	rs61749715
MSV3d	rs61749715
GWAS Ctlg	rs61749715

Max Magnitude

0

OMIM	300005
Desc
Variant	0033
Related	also

ClinVar
Risk	rs61749715(G;G) rs61749715(T;T)
Alt	rs61749715(G;G) rs61749715(T;T)
Reference	Rs61749715(C;C)
Significance	Pathogenic
Disease	Mental retardation Rett syndrome Angelman syndrome
Variation	info
Gene	MECP2
CLNDBN	Mental retardation, X-linked, syndromic 13 Rett syndrome Angelman syndrome
Reversed	1
HGVS	NC_000023.10:g.153296605G>A; NC_000023.10:g.153296605G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012615.24, RCV000133194.3, RCV000133193.2, RCV000476280.1,

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