rs61749738

minus

Geno	Mag	Summary
(C;C)	0	common/normal
(C;G)	3	possible: carrier of a Rett syndrome allele
(G;G)	4	possible: Rett syndrome

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

154031145

Gene

MECP2

is a	snp
is	mentioned by
dbSNP	rs61749738
dbSNP (classic)	rs61749738
ClinGen	rs61749738
ebi	rs61749738
HLI	rs61749738
Exac	rs61749738
Gnomad	rs61749738
Varsome	rs61749738
LitVar	rs61749738
Map	rs61749738
PheGenI	rs61749738
Biobank	rs61749738
1000 genomes	rs61749738
hgdp	rs61749738
ensembl	rs61749738
geneview	rs61749738
scholar	rs61749738
google	rs61749738
pharmgkb	rs61749738
gwascentral	rs61749738
openSNP	rs61749738
23andMe	rs61749738
SNPshot	rs61749738
SNPdbe	rs61749738
MSV3d	rs61749738
GWAS Ctlg	rs61749738

Max Magnitude

4

rs61749738, also known as c.719C>G, p.Thr240Ser and T240S, as well as c.683C>G, p.Thr228Ser and T228S, represents a rare mutation in the MECP2 gene, located on the X chromosome.

Different sources differ on whether the rare rs61749738(G) allele leads to Rett syndrome, one of the most common forms of mental retardation in females. Some sources report that this allele is benign; others conclude it is pathogenic, including the authors of [PMID 25741868 ].

ClinVar
Risk	Rs61749738(G;G)
Alt	Rs61749738(G;G)
Reference	Rs61749738(C;C)
Significance	Non-pathogenic
Disease	not specified
Variation	info
Gene	MECP2
CLNDBN	not specified
Reversed	1
HGVS	NC_000023.10:g.153296596G>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000146356.2,