rs61749738
A SNP in the MECP2 gene on chromosome X. Its most notable genotype is C;C: possible: Rett syndrome
- Gene
- MECP2
- Location
- Chr X154,031,145 (GRCh38)
- Highest magnitude
- 4.0Very important
- Tested on
- 23andMe, AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- G;GGoodcommon/normal
- C;GBadpossible: carrier of a Rett syndrome allele
- C;CMost notableBadpossible: Rett syndrome
SNPedia records rs61749738 on the minus strand: (C;C), (C;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other MECP2 SNPs
- rs28934904A;GRett Syndrome (predicted)Very important
- rs28934906A;GRett Syndrome (predicted)Very important
- rs28934907A;GRett Syndrome (predicted)Very important
- rs28935468A;GRett Syndrome (predicted)Very important
- rs61748404C;GRett Syndrome (predicted)Very important
- rs61748421A;GRett Syndrome (predicted)Very important
- rs61749721A;GRett Syndrome (predicted)Very important
- rs61750240A;GRett Syndrome (predicted)Very important
Notes
From SNPedia
Notes
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 .
C;G
see discussion at rs61749738
C;C
possible but uncertain; see discussion at rs61749738
Source and license
Adapted from rs61749738 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.