Have questions? Visit https://www.reddit.com/r/SNPedia

rs61749738

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common/normal
(C;G) 3 possible: carrier of a Rett syndrome allele
(G;G) 4 possible: Rett syndrome
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position154031145
GeneMECP2
is asnp
is mentioned by
dbSNPrs61749738
ebirs61749738
HLIrs61749738
Exacrs61749738
Varsomers61749738
Maprs61749738
PheGenIrs61749738
hapmaprs61749738
1000 genomesrs61749738
hgdprs61749738
ensemblrs61749738
gopubmedrs61749738
geneviewrs61749738
scholarrs61749738
googlers61749738
pharmgkbrs61749738
gwascentralrs61749738
openSNPrs61749738
23andMers61749738
23andMe allrs61749738
SNP Nexus

SNPshotrs61749738
SNPdbers61749738
MSV3drs61749738
GWAS Ctlgrs61749738
Max Magnitude4
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 25741868OA-icon.png].

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
CLNACC RCV000146356.2,